Genetic disorders are diseases caused by abnormalities in one’s DNA. These “abnormalities” can range from a small mutation in a single nucleotide to the addition or subtraction of entire chromosome pairs. One might imagine why the mutation of a single gene could cause an entire disorder like Sickle Cell Disease or Cystic Fibrosis. It is because each three gene pair is called a codon. These codons are used in protein synthesis to make a specific protein. Each codon “codes” for a specific amino acid. However, if one codon (possibly one gene) is mutated, the wrong amino acid(s) may be used in protein synthesis. Now the organism has a completely different protein with a completely different structure than what it originally needed. A genetic disorder is born.
We get our genetic information from our parents. This process of passing on genes is called “inheritance.” Each parent contributes half or the offspring’s total DNA. Genes can be described as dominant or recessive. Since the offspring receives a copy of each chromosome from its parent, the gene that ‘dominates’ can be observed. However, the offspring could be a carrier for the recessive gene. The pattern can be described by the pattern aa, AA, Aa, (aA).
Alzheimer’s Disease (AD) is the most common form of dementia. I decided to research this disorder because my mom has dementia. Alzheimer’s disease is characterized as an incurable, degenerative, and terminal and is generally attributed to those over 65. As of now, no medicines slow the progression of the disease. Only some slightly reduce its symptoms. Only a few hypotheses are in acceptance. One describes reduced synthesis of the neurotransmitter acetylcholine. Another postulated that amyloid beta deposits were the cause for AD. Support for this idea came from the location of the gene for the amyloid beta precursor protein on chromosome 21. Evidence also arose when a pattern was noticed in patients with Down Syndrome. They developed AD by age 40 and have an extra gene copy of chromosome 21.
Stem cell research is the controversial study of regenerative cells. A stem cell is characterized by its ability to renew itself through mitosis and differentiate into specialized cell types. There are two broad classifications for mammalian stem cells: Embryonic and Adult (embryonic are more researched because they are more medically valuable). Embryonic stem cells are found in multi-cellular embryos ant are known as totipotent (omnipotent) meaning that they could, at this point, differentiate into any type of mammalian cell with enough stimulation for that type. Most research today is being done on mouse embryonic stem (mES) cells. Some research, however, has been conducted on human embryonic stem (hES) cells. Here lies the controversy. Many people believe that human embryos (even those obtained from abortions) should not be used for such research as it is “inhumane.” I believe that embryonic stem cell research should only be conducted on aborted embryos if the parent(s) agree(s) to it. I believe that it is their choice. However, in no cases should an embryo be used in research without parental consent. Alzheimer’s disease could be affected by stem cell research, but it is hard to say at this point. Little is known about Alzheimer’s and stem cells. Hopefully advances in stem cell research and determining the cause for AD can be paired into a cure for AD or even a treatment of any kind.
Thursday, October 22, 2009
Alzheimer’s and Stem Cells
Research Paper
- Explain how mutations can cause genetic disorders:
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. - Describe inheritance patterns:
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Single gene inheritance is also referred to as Mendelian inheritance as they follow transmission patterns he observed in his research on peas. There are four types of Mendelian inheritance patterns:
Autosomal: the gene responsible for the phenotype is located on one of the 22 pairs of autosomes (non-sex determining chromosomes).
X-linked: the gene that encodes for the trait is located on the X chromosome.
Dominant: conditions that are manifest in heterozygotes (individuals with just one copy of the mutant allele).
Recessive: conditions are only manifest in individuals who have two copies of the mutant allele (are homozygous). - Choose a particular genetic disorder
Down syndrome
Describe in detail:
The cause of the disorder
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history, and pure chance.
Any research current to this disorder
Many institutes are working on a cure for down syndrome but as of right now, there are no current cures for the disorder. One thing that has been done is plastic surgery. That is to decrease the social stigma which sometimes leads to a better quality of life. Plastic surgery is very uncommon though.
Problems that arise from this disorder
People that have down syndrome often have physical features that are uncommon. They have mircogenia which is a abnormally small chin, oblique eye fissures, muscle hypotonia (poor mucle tone), a flat nasal bridge, a single palmar fold, a protruding tongue and more. Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy. Cognitive development in children with Down syndrome is quite variable. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay, requiring speech therapy to improve expressive language. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development.
Any other interesting information relative to this disorder
Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic couseling. along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems.
- Stem cell research
What is it?
Stem cell research is a relatively new technology that takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body, including blood cells and brain cells.
Why is it so controversial?
The controversy over stem cells is from the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child that the egg could have developed into. Currently, scientists and researchers are only using embryos that are unwanted and would already not be given an opportunity to develop into a human being. For instance, infertility doctors typically create several embryos for women who are unable to naturally become pregnant, and then the doctor chooses the best fertilized egg to implant into the woman and disposes of all the remaining eggs. Instead of these embryonic eggs going to waste, they are sometimes used for stem cell research.
Your stance on if it should/ should not be legal
I think that stem cell research should be legal if fertilized human eggs aren’t being destroyed. I think that stem cells could potentially (if done correctly with enough research) help people that have many disorders or diseases have a normal life that many others already have.
Potential impact of SCR on your disorder
Stem cell research could possibly find a cure for down syndrome although at this moment there is no cure for it. It could give those people a normal life that they do not have.
The human genome is a very complex thing, scientists aren’t even close to figuring it out, and every thing needs to be just right for a “normal” child to be born. If even the smallest gene is changed it could result in a child that has a disorder. These mutations are when the normal DNA sequence of a gene is changed in a way that makes it so a protein encoded by the gene malfunctions. If a protein malfunctions then every cell containing that protein is at risk, and those cells are putting the cells around them at risk, of not being able to do their job, creating a defect in the child.
Mutations can occur because of chance, or they can be passed through generations, these patterns are called inheritance patterns. There are four different types of single gene inheritance patterns, these are autosomal dominant, autosomal recessive, x-linked dominant, and x-linked recessive. The autosomal traits are found on the 22 non-sex determining pairs of chromosomes. The x-linked traits are all found on your x chromosome. The other two types of inheritance patterns are multifactoral inheritance, where several factors create the disorder, and mitochondrial inheritance, where the mitochondria’s function is slowed, or ended.
An example of a genetic disorder is Huntington’s Disease, which is an inherited neurological disorder that causes involuntary movements, severe emotional disturbance, and cognitive decline. The gene that causes Huntington’s is found on chromosome 4 which codes for the protein huntingtin, whose function is unknown. Huntingtin is usually coded with the three letters CAG repeated 11-29 times, but in the defective gene CAG is repeated 40-80 times. Huntington’s is a disease that causes the malfunctioning huntingtin to clump in the brain, most commonly effecting the Basal ganglia and cortex, which control movement, thought, perception, and memory. It also destroys neurological cells. The latest discovery relating to Huntington’s happened while it was being researched at the University of California Irvine; here they found that they could prevent cell death in a fruit fly that carried the gene defect. They believe they’ve found how the mutation alters the chemical pathway to cause the disease.Stem cell research is a hot button issue these days that has the potential to help cure many disorders involving cell death, overgrowth, or malfunction. Stem cells are cells that can be turned into almost any kind of cell, which could help cure those with disorders that cause cell malfunction. Stem cells were first taken from embryos, these embryonic stem cells are why most people are against stem cell research, they believe that it is wrong to create embryos just for their cells and then just get rid of them. However now there is a new type of stem cell found in adults. Adult stem cells are undifferentiated cells among cells that serve a purpose, and these can be programmed for a function. Induced pluripotent stem cells are adult cells that have been returned to an embryonic state and are used for the same function. Stem cell research should be legalized so that people who are suffering from painful and life altering disorders may have the chance to be like everyone else. Stem cell research has they potential to cure those with Huntington’s, by replacing the dead neurological cells in their brains.
Mutations can occur because of chance, or they can be passed through generations, these patterns are called inheritance patterns. There are four different types of single gene inheritance patterns, these are autosomal dominant, autosomal recessive, x-linked dominant, and x-linked recessive. The autosomal traits are found on the 22 non-sex determining pairs of chromosomes. The x-linked traits are all found on your x chromosome. The other two types of inheritance patterns are multifactoral inheritance, where several factors create the disorder, and mitochondrial inheritance, where the mitochondria’s function is slowed, or ended.
An example of a genetic disorder is Huntington’s Disease, which is an inherited neurological disorder that causes involuntary movements, severe emotional disturbance, and cognitive decline. The gene that causes Huntington’s is found on chromosome 4 which codes for the protein huntingtin, whose function is unknown. Huntingtin is usually coded with the three letters CAG repeated 11-29 times, but in the defective gene CAG is repeated 40-80 times. Huntington’s is a disease that causes the malfunctioning huntingtin to clump in the brain, most commonly effecting the Basal ganglia and cortex, which control movement, thought, perception, and memory. It also destroys neurological cells. The latest discovery relating to Huntington’s happened while it was being researched at the University of California Irvine; here they found that they could prevent cell death in a fruit fly that carried the gene defect. They believe they’ve found how the mutation alters the chemical pathway to cause the disease.Stem cell research is a hot button issue these days that has the potential to help cure many disorders involving cell death, overgrowth, or malfunction. Stem cells are cells that can be turned into almost any kind of cell, which could help cure those with disorders that cause cell malfunction. Stem cells were first taken from embryos, these embryonic stem cells are why most people are against stem cell research, they believe that it is wrong to create embryos just for their cells and then just get rid of them. However now there is a new type of stem cell found in adults. Adult stem cells are undifferentiated cells among cells that serve a purpose, and these can be programmed for a function. Induced pluripotent stem cells are adult cells that have been returned to an embryonic state and are used for the same function. Stem cell research should be legalized so that people who are suffering from painful and life altering disorders may have the chance to be like everyone else. Stem cell research has they potential to cure those with Huntington’s, by replacing the dead neurological cells in their brains.
Genetic Disorder Research Project
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Most diseases have multifactorial inheritance patterns. As the name implies, multifactorial conditions are not caused by a single gene, but rather are a result of interplay between genetic factors and environmental factors.A typical pedigree from a family with a mutation in the BRCA1 gene. Fathers can be carriers and pass the mutation onto offspring. Not all people who inherit the mutation develop the disease, thus patterns of transmission are not always obvious.
Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Hemophilia- is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
· Hemophilia is an inherited disease. Specifically, hemophilia is caused by mutations in the F8 or F9 genes. In most cases, hemophilia is passed from a female carrier to her son; however, it is possible for boys with hemophilia to be born to mothers who are not carriers when there is a random mutation in the gene as it is passed on to the child. Although it is very rare, it is possible for a girl to be born with hemophilia.
· Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clotting factors 8 and 9. These genes are located on the X chromosomes, which determine whether a baby is a boy or girl.
· Mutations in the F8 or F9 genes cause hemophilia. Mutations in the F8 gene cause hemophilia A, while hemophilia B is caused by mutations in the F9 gene.
· The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, which lead to excessive bleeding that can be difficult to control.
· A man who has hemophilia cannot pass the disease on to his sons; however, all of his daughters will be carriers.
Stem cells are seen by many researchers as having virtually unlimited application in the treatment and cure of many human diseases and disorders including Alzheimer's, diabetes, cancer, strokes, etc.
Some people view the killing of any embryo in order to extract its stem cells to be a form of homicide. They are generally opposed to such research. Others disagree. They believe that an embryo has the potential to develop into a person, but is not a person itself. They note that an embryo is not sentient; it has no brain, sensory organs, ability to think, memory, awareness of its surroundings, consciousness, internal organs, arms, legs, head, etc. They feel that research using stem cells derived from embryos is ethical. Fortunately, if IPS cell technology develops as expected, it will eventually replace the need to derive stem cells from embryos.
I agree with some of the stem cell research out there, I think that if they can find a way to cure cancer and other diseases that are deadly and yet to find the cure to, would be amazing.
Mouse embryonic stem cells treated in culture with a growth factor and then injected into the liver reverse a form of hemophilia in mice analogous to hemophilia B in humans.
Genetic conditions caused by a mutation in a single gene follow predictable patterns of inheritance within families. Most diseases have multifactorial inheritance patterns. As the name implies, multifactorial conditions are not caused by a single gene, but rather are a result of interplay between genetic factors and environmental factors.A typical pedigree from a family with a mutation in the BRCA1 gene. Fathers can be carriers and pass the mutation onto offspring. Not all people who inherit the mutation develop the disease, thus patterns of transmission are not always obvious.
Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Hemophilia- is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
· Hemophilia is an inherited disease. Specifically, hemophilia is caused by mutations in the F8 or F9 genes. In most cases, hemophilia is passed from a female carrier to her son; however, it is possible for boys with hemophilia to be born to mothers who are not carriers when there is a random mutation in the gene as it is passed on to the child. Although it is very rare, it is possible for a girl to be born with hemophilia.
· Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clotting factors 8 and 9. These genes are located on the X chromosomes, which determine whether a baby is a boy or girl.
· Mutations in the F8 or F9 genes cause hemophilia. Mutations in the F8 gene cause hemophilia A, while hemophilia B is caused by mutations in the F9 gene.
· The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, which lead to excessive bleeding that can be difficult to control.
· A man who has hemophilia cannot pass the disease on to his sons; however, all of his daughters will be carriers.
Stem cells are seen by many researchers as having virtually unlimited application in the treatment and cure of many human diseases and disorders including Alzheimer's, diabetes, cancer, strokes, etc.
Some people view the killing of any embryo in order to extract its stem cells to be a form of homicide. They are generally opposed to such research. Others disagree. They believe that an embryo has the potential to develop into a person, but is not a person itself. They note that an embryo is not sentient; it has no brain, sensory organs, ability to think, memory, awareness of its surroundings, consciousness, internal organs, arms, legs, head, etc. They feel that research using stem cells derived from embryos is ethical. Fortunately, if IPS cell technology develops as expected, it will eventually replace the need to derive stem cells from embryos.
I agree with some of the stem cell research out there, I think that if they can find a way to cure cancer and other diseases that are deadly and yet to find the cure to, would be amazing.
Mouse embryonic stem cells treated in culture with a growth factor and then injected into the liver reverse a form of hemophilia in mice analogous to hemophilia B in humans.
Research Project: Genetic Disorder
Genetic disorders are diseases caused by abnormalities in an individual’s genetic material. The abnormality can either be one of four single-gene, multifactorial, chromosomal, and mitochondrial. Single gene is when one gene is changed, mutifactorial is when multiple genes are changed, chromosomal is when one chromosome is missing or one is added and mitochondrial caused by mutations in the nonchromosomal DNA of mitochondria.
Strong or big genetic diseases can be inherited but then some smaller ones will not be inherited by the off-spring. If it’s a single gene mutation the disease is going to be inherited by the off-spring but multifactoral is more than likely not going to be passed on. Single gene mutation can either be a recessive or it can be dominant. Recessive is when both copies of a gene must be damaged or mutated. Dominant diseases are genetic diseases that only require a single copy of the gene to be damaged. From all this you can tell that there is a lot of ways and reason why a off-spring could receive a genetic disease. There are lots of ways they can get it. One switch could change someone’s life.
One genetic disease that I found was batten disease. Batten disease is a rare genetic disorder that severely affects the nervous system. This usually begins in children, between the ages of 5 to 10. Some early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Theses symptoms will occur due to the buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Another symptom is vision loss and this is usually the first symptom that is found because it can be shown in eye test. Batten disease is a recessive mutation, meaning both the genes need to be mutated. The good thing about this is you could only have one gene mutated and you would only be a carrier but you have a one in four change of giving it to your off-spring. An interesting fact about this is you usually only life to be about late teens early twenties. There is no current treatment for it which is why people only live as long as they do. I think they should be happy that they are able to live as long as they are able to and just be grateful for the life they do get to live. Another interesting fact is this disease appears to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada.
Stem cells are cells that have the potential to develop into some or many different cell types in the body. These cells can potentially help repair systems. Other words they divide without limit to replenish other cells for as long as the person or animal is still alive.When they do divide they can either stay a stem cell or they go change into a blood cell or muscle cell or brain cell. There are two different types: Pluripotent stem cells are any type of cell in the body except those needed to support and develop a fetus in the womb. Multipotent stem cells deal with a small number of different cell types. Stem cells are able to pretty much grow into anything they want and that is the reason that doctors want to be able to do stem cell research, they think in the long run that it is going to help the people. They want to be able to save a person that has cancer. Take the new cells that are found in the stem cell and put that into their useful DNA. Pretty much get rid of the disease without treatment or radiation. One type of stem cell research that is the most controverial is embryonic cells. Embryonic stem cell research has been getting the most money but this happens to be the one that people don’t like the most. They believe that they are killing life when they do this research and people see that as murder. Doctors argue that when you take the embryonic stem cell that there is no life and that people shouldn’t worry about that. Depending on your type of disorder stem cell research could benefit you by figuring out where the source of the problem is or it couldn’t benefit you. But like I said it just all depends on your health problem. In my opinion I don’t k now why this would be so bad, stem cell research overall. If we can use human DNA to help cure and save peoples lives isn’t that a good thing?
-Hannah Olson
Strong or big genetic diseases can be inherited but then some smaller ones will not be inherited by the off-spring. If it’s a single gene mutation the disease is going to be inherited by the off-spring but multifactoral is more than likely not going to be passed on. Single gene mutation can either be a recessive or it can be dominant. Recessive is when both copies of a gene must be damaged or mutated. Dominant diseases are genetic diseases that only require a single copy of the gene to be damaged. From all this you can tell that there is a lot of ways and reason why a off-spring could receive a genetic disease. There are lots of ways they can get it. One switch could change someone’s life.
One genetic disease that I found was batten disease. Batten disease is a rare genetic disorder that severely affects the nervous system. This usually begins in children, between the ages of 5 to 10. Some early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Theses symptoms will occur due to the buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Another symptom is vision loss and this is usually the first symptom that is found because it can be shown in eye test. Batten disease is a recessive mutation, meaning both the genes need to be mutated. The good thing about this is you could only have one gene mutated and you would only be a carrier but you have a one in four change of giving it to your off-spring. An interesting fact about this is you usually only life to be about late teens early twenties. There is no current treatment for it which is why people only live as long as they do. I think they should be happy that they are able to live as long as they are able to and just be grateful for the life they do get to live. Another interesting fact is this disease appears to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada.
Stem cells are cells that have the potential to develop into some or many different cell types in the body. These cells can potentially help repair systems. Other words they divide without limit to replenish other cells for as long as the person or animal is still alive.When they do divide they can either stay a stem cell or they go change into a blood cell or muscle cell or brain cell. There are two different types: Pluripotent stem cells are any type of cell in the body except those needed to support and develop a fetus in the womb. Multipotent stem cells deal with a small number of different cell types. Stem cells are able to pretty much grow into anything they want and that is the reason that doctors want to be able to do stem cell research, they think in the long run that it is going to help the people. They want to be able to save a person that has cancer. Take the new cells that are found in the stem cell and put that into their useful DNA. Pretty much get rid of the disease without treatment or radiation. One type of stem cell research that is the most controverial is embryonic cells. Embryonic stem cell research has been getting the most money but this happens to be the one that people don’t like the most. They believe that they are killing life when they do this research and people see that as murder. Doctors argue that when you take the embryonic stem cell that there is no life and that people shouldn’t worry about that. Depending on your type of disorder stem cell research could benefit you by figuring out where the source of the problem is or it couldn’t benefit you. But like I said it just all depends on your health problem. In my opinion I don’t k now why this would be so bad, stem cell research overall. If we can use human DNA to help cure and save peoples lives isn’t that a good thing?
-Hannah Olson
Genetic Disorders Research
A genetic mutation is a permanent change in a DNA sequence. These mutations can be very large or very small ranging from one DNA base to a large segment of a chromosome. Genetic mutations can be inherited from a parent or can be obtained through a person’s lifetime. People have two copies of each gene (one acquired from each parent) The two copies of the gene may be exactly the same or be slightly different versions called alleles. A genetic disorder is caused from an abnormality in the chromosomes or alleles.
Angelman Syndrome is a complex genetic disorder that mostly affects the nervous system. It is estimated to affect 1 in12,000 to 20,000 people. It results from a loss of the function of the gene UBE3A. People normally inherit one copy of this gene from each parent. Both copies are turned on in body tissues. However, in certain parts of the brain, the only copy inherited is from the mother. This mutation is caused by genomic imprinting. If the UBE3A gene is lost, they will have no active copies in some parts of the brain. Most cases of Angelman Syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Some characteristics include developmental delay, intellectual disability, speech impairments, and difficulties in movement and balance. Most children with Angelman Syndrome suffer from epilepsy and display abnormal qualities in young ages. They typically display frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Other physical characteristics include pale skin and light colored hair. As people with Angelman syndrome age, the disorder becomes less excitable. However, affected people tend to still have intellectual disabilities, speech impediments, and seizures.
Stem cell research takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body. Stem cell research is used due to the hope that it can uncover treatments and possibly cures for some of the worst diseases in the world. However, it includes fears of human cloning and has concerns over the ethics of destroying human embryos. For this reason, SCR is very controversial due to the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child. Currently, however, scientists and researchers are only using embryos that are unwanted and would not be given an opportunity to develop. I feel that SCR is acceptable as long as the embryos were not wanted. I don’t think SCR should be conducted on embryos that do have a chance of developing into humans. Stem cell research is not in great use for developing a cure for Angelman syndrome as much as it is in the affects of Angelman syndrome such as scoliosis.
Angelman Syndrome is a complex genetic disorder that mostly affects the nervous system. It is estimated to affect 1 in12,000 to 20,000 people. It results from a loss of the function of the gene UBE3A. People normally inherit one copy of this gene from each parent. Both copies are turned on in body tissues. However, in certain parts of the brain, the only copy inherited is from the mother. This mutation is caused by genomic imprinting. If the UBE3A gene is lost, they will have no active copies in some parts of the brain. Most cases of Angelman Syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Some characteristics include developmental delay, intellectual disability, speech impairments, and difficulties in movement and balance. Most children with Angelman Syndrome suffer from epilepsy and display abnormal qualities in young ages. They typically display frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Other physical characteristics include pale skin and light colored hair. As people with Angelman syndrome age, the disorder becomes less excitable. However, affected people tend to still have intellectual disabilities, speech impediments, and seizures.
Stem cell research takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body. Stem cell research is used due to the hope that it can uncover treatments and possibly cures for some of the worst diseases in the world. However, it includes fears of human cloning and has concerns over the ethics of destroying human embryos. For this reason, SCR is very controversial due to the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child. Currently, however, scientists and researchers are only using embryos that are unwanted and would not be given an opportunity to develop. I feel that SCR is acceptable as long as the embryos were not wanted. I don’t think SCR should be conducted on embryos that do have a chance of developing into humans. Stem cell research is not in great use for developing a cure for Angelman syndrome as much as it is in the affects of Angelman syndrome such as scoliosis.
Genetic Disorders
A genetic mutation is any change in an individual’s genetic structure. These changes are caused by the nucleotide structures of genetic material in an organism being transformed into something different than what it should be. Ways the genetic structure can be changed are by deletion, duplication, inversion, insertion and translocation. These mutations can be harmful, nonlethal or neutral to an individual. When the mutations change the genetic sequence, the genes of the individual are changed, affecting some quality of such individual.
Inheritance patterns trace the transmission of genetically encoded traits, conditions or diseases to offspring. The ways that mutation can be inherited are by a single gene or Mendelian transfer, multifactorial inheritance, and mitochondrial inheritance. Single Gene mutations follow predictable patterns within families. The inheritance patterns of single gene mutations are either autosomal or x-linked, but those can either be dominant or recessive. Multifactorial inheritance patterns are caused by multiple genetic and environmental factors put together. Diseases of multifactorial inheritance aren’t genetically determined, but a genetic mutation can predispose an individual to a certain disease. Other genetic and environmental factors contribute to whether or not the disease develops. Mitochondrial inheritance comes from the mitochondria. Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however, they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Di George’s Syndrome is caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome on the long arm of one of the pair of chromosomes 22. Very rarely, patients also have deletions on the small arm of chromosome 10. About 1 in 4000 people is diagnosed with this disorder. When someone has this disorder, they are missing about 3 million base pairs of DNA. As of right now, there is no treatment for Di George’s syndrome, but some of the individual symptoms can be treated. Symptoms of these individuals include but are not limited to are, congenital heart disease (40% of individuals), palatal abnormalities (50%), learning difficulties (90%), hypocalcemia (50%), renal abnormalities (37%), hearing loss, growth hormone deficiency, autoimmune disorders, seizures and skeletal abnormalities.
Stem cell research uses the live stem cells of an individual to use in the treatment of many disorders and diseases. Stem cells can develop into many different cell types during the growth of the body. These tissues act as an internal repair system for the body replenishing other cells throughout the body. The types of cells used are embryonic stem cells, adult stem cells, and induced pluripotent stem cells, mouse stem cells are also used sometimes. It’s so controversial because people find it inhumane to take stem cells from other beings to try and cure someone else. I think stem cell research is a good thing just in that it could potentially cure so many disorders and diseases. The possibilities are endless with this kind of research. The downfall however, is that you are taking stem cells from something alive like mice or an embryo which kills them. That’s the big problem with this research. I think stem cell research might be able to treat different symptoms of Di George’s syndrome, but not the missing piece of chromosome itself. Stem cell research cannot create a chromosome or gene which is how Di George’s would have to be cured.
Inheritance patterns trace the transmission of genetically encoded traits, conditions or diseases to offspring. The ways that mutation can be inherited are by a single gene or Mendelian transfer, multifactorial inheritance, and mitochondrial inheritance. Single Gene mutations follow predictable patterns within families. The inheritance patterns of single gene mutations are either autosomal or x-linked, but those can either be dominant or recessive. Multifactorial inheritance patterns are caused by multiple genetic and environmental factors put together. Diseases of multifactorial inheritance aren’t genetically determined, but a genetic mutation can predispose an individual to a certain disease. Other genetic and environmental factors contribute to whether or not the disease develops. Mitochondrial inheritance comes from the mitochondria. Mitochondria are only inherited from the mother's egg, thus only females can transmit the trait to offspring, however, they pass it on to all of their offspring. The primary function of mitochondria is conversion of molecule into usable energy. Thus many diseases transmitted by mitochondrial inheritance affect organs with high-energy use such as the heart, skeletal muscle, liver, and kidneys.
Di George’s Syndrome is caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome on the long arm of one of the pair of chromosomes 22. Very rarely, patients also have deletions on the small arm of chromosome 10. About 1 in 4000 people is diagnosed with this disorder. When someone has this disorder, they are missing about 3 million base pairs of DNA. As of right now, there is no treatment for Di George’s syndrome, but some of the individual symptoms can be treated. Symptoms of these individuals include but are not limited to are, congenital heart disease (40% of individuals), palatal abnormalities (50%), learning difficulties (90%), hypocalcemia (50%), renal abnormalities (37%), hearing loss, growth hormone deficiency, autoimmune disorders, seizures and skeletal abnormalities.
Stem cell research uses the live stem cells of an individual to use in the treatment of many disorders and diseases. Stem cells can develop into many different cell types during the growth of the body. These tissues act as an internal repair system for the body replenishing other cells throughout the body. The types of cells used are embryonic stem cells, adult stem cells, and induced pluripotent stem cells, mouse stem cells are also used sometimes. It’s so controversial because people find it inhumane to take stem cells from other beings to try and cure someone else. I think stem cell research is a good thing just in that it could potentially cure so many disorders and diseases. The possibilities are endless with this kind of research. The downfall however, is that you are taking stem cells from something alive like mice or an embryo which kills them. That’s the big problem with this research. I think stem cell research might be able to treat different symptoms of Di George’s syndrome, but not the missing piece of chromosome itself. Stem cell research cannot create a chromosome or gene which is how Di George’s would have to be cured.
Mutations Research Project
Mutations are changes in a nucleotide sequence which alter the structure of the DNA—this is either by insertion, deletion, or substitution. These errors are caused during the copying in replication. The effect they have on the organism can sometimes be positive, such as for promoting genetic diversity, but it also causes inherent diseases. These lethal mutations occur when there are specific errors in the protein sequence which create a partially or completely non-functional protein that plays a critical role in the body, and this is when medical conditions arise. A mutation present in a germ cell (gamete) will lead to hereditary diseases, and in this case it is possible that there is no seen family history of it. If the mutation occurs in a somatic cell, it will pass on to descendants of the organism. If the mutation allows the cell to become malignant, in can cause cancer.
Cystic Fibrosis is a genetic disorder that affects the secretory glands (ones that produce mucus and sweat). It is an autosomal recessive disorder, and because of that, two copies of the gene must be present in order for a person to be affected by it. If two parents who carry one mutation of the disorder have a child, it has a 25% chance of being affected by the disorder. The disease’s etiology is the affection of a certain gene, cystic fibrosis transmembrane conductance regulator (CFTR), by a mutation. That gene normal produces a chlorine ion channel which helps to create the “juices” that are inhibited/overstimulated by this disorder. Men can become infertile because of the inability to develop vas deferens before birth. Effects of the disease are a buildup of mucus in the alveoli—instead of creating a normal resin to keep the alveoli in the healthy condition, a mutation on the cilial epithilial cells of the infected patient will cause the body to produce a thicker resin. This inhibits the oxygen extraction, which leads to breathlessness. A high level of exercise is necessary for adequate breathing. Other symptoms are salty-tasting skin, poor growth and/or weight gain. Because of the settled mucus, patients are susceptible to many chest infections due to the bacteria that thrives in it. It is typically seen as a rare disease, but has been shown to be the most widespread of life-shortening diseases, occurring in 1 in 22 people of Mediterranean descent.
Lung transplantation is often necessary because of the weakening of the lungs and lowered tolerance to exercise. While normally a single lung transplant would be sufficient, people with CF cannot allow this because the remaining lung may have bacteria that could infect the new lung, thereby defeating the purpose. Another avenue that has been pursued is gene therapy, which places a copy of the CFTR gene into the affected cells. However, this method is seen (for the time being) as relatively ineffective because of the inflammation response and rejection during cDNA recombination.
Stem cells are beneficial because they have the ability to regenerate (through mitotic cell division) and also differentiate into many specialized cell types. Adult cells can be taken from umbilical cord blood and bone marrow. Some people become confused when ill informed on the issue, and this is where personal issues with its very existence come into play. As long as SCR does not harm anyone involved, I believe that it is a positive process. By utilizing something that would otherwise have been wasted, people are being given a better chance to live. If it is available, it is inconceivable why one should be denied of the basic right of life. However, the controversy does not encompass the entire field, but only the harvesting of human embryos. The use of adult stem cells, which are used without destroying anything, is actually common. The debate comes about when people say that the use of an embryo is a destruction of a life that should be protected. Opponents also say that reproductive cloning can devalue human life. Supporters of the research say that it should be encouraged because it could lead to unseen medical advances. All of these factors should be weighed in order to determine which sacrifices are necessary for the greater good.
Cystic Fibrosis is a genetic disorder that affects the secretory glands (ones that produce mucus and sweat). It is an autosomal recessive disorder, and because of that, two copies of the gene must be present in order for a person to be affected by it. If two parents who carry one mutation of the disorder have a child, it has a 25% chance of being affected by the disorder. The disease’s etiology is the affection of a certain gene, cystic fibrosis transmembrane conductance regulator (CFTR), by a mutation. That gene normal produces a chlorine ion channel which helps to create the “juices” that are inhibited/overstimulated by this disorder. Men can become infertile because of the inability to develop vas deferens before birth. Effects of the disease are a buildup of mucus in the alveoli—instead of creating a normal resin to keep the alveoli in the healthy condition, a mutation on the cilial epithilial cells of the infected patient will cause the body to produce a thicker resin. This inhibits the oxygen extraction, which leads to breathlessness. A high level of exercise is necessary for adequate breathing. Other symptoms are salty-tasting skin, poor growth and/or weight gain. Because of the settled mucus, patients are susceptible to many chest infections due to the bacteria that thrives in it. It is typically seen as a rare disease, but has been shown to be the most widespread of life-shortening diseases, occurring in 1 in 22 people of Mediterranean descent.
Lung transplantation is often necessary because of the weakening of the lungs and lowered tolerance to exercise. While normally a single lung transplant would be sufficient, people with CF cannot allow this because the remaining lung may have bacteria that could infect the new lung, thereby defeating the purpose. Another avenue that has been pursued is gene therapy, which places a copy of the CFTR gene into the affected cells. However, this method is seen (for the time being) as relatively ineffective because of the inflammation response and rejection during cDNA recombination.
Stem cells are beneficial because they have the ability to regenerate (through mitotic cell division) and also differentiate into many specialized cell types. Adult cells can be taken from umbilical cord blood and bone marrow. Some people become confused when ill informed on the issue, and this is where personal issues with its very existence come into play. As long as SCR does not harm anyone involved, I believe that it is a positive process. By utilizing something that would otherwise have been wasted, people are being given a better chance to live. If it is available, it is inconceivable why one should be denied of the basic right of life. However, the controversy does not encompass the entire field, but only the harvesting of human embryos. The use of adult stem cells, which are used without destroying anything, is actually common. The debate comes about when people say that the use of an embryo is a destruction of a life that should be protected. Opponents also say that reproductive cloning can devalue human life. Supporters of the research say that it should be encouraged because it could lead to unseen medical advances. All of these factors should be weighed in order to determine which sacrifices are necessary for the greater good.
Sickle Cell Research Project
Mutations in DNA and RNA can cause genetic disorders because they are the scripts to make proteins and they tell what they do and go to. If a mutation makes a protein that is supposed to go to the liver and it goes to the brain for instance it could mess things up in there. For a Mutation to carry on it usually has to be a dominant gene, or it will just die out in that particular organism. Sickle cell anemia is a disease that causes hemoglobin s (abnormal hemoglobin molecules) and that makes the red blood cells stiffen and assume a sickle shape. The shape of the blood cells causes them to pile up and cause blockages that damage vital tissue. It is anemia because these blood cells are destroyed rapidly in patients. A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have the genetic defect, there is a 25 % chance that each child will be born the disease. With new drugs and research patients are able to live past childhood and live past fifty. The only cure to this is a bone marrow transplant where a close genetic match, usually a sibling, gives bone marrow to correct the blood making. Genetic Therapy claims to be able to correct the defective gene and plant it into the bone marrow.
Stem cell research is where an embryos or adult tissue are used to study genetics and to find cures to diseases. It is controversial because people think that the embryos are human life and that they could be used for cloning. I full agree that stem cell research should be legal because the embryos used for it are most of the time thrown out or re frozen never to be used again. There are diseases that have to be cured and this is the most promising way to do it not through religion or conservative thinking. I do not like the idea of human cloning it is not right and should only be used if our race is about to become extinct (race means humans not black white or w/e). Sickle cell anemia could be cured if a way to reverse and correct the genetic mutation is found.
Stem cell research is where an embryos or adult tissue are used to study genetics and to find cures to diseases. It is controversial because people think that the embryos are human life and that they could be used for cloning. I full agree that stem cell research should be legal because the embryos used for it are most of the time thrown out or re frozen never to be used again. There are diseases that have to be cured and this is the most promising way to do it not through religion or conservative thinking. I do not like the idea of human cloning it is not right and should only be used if our race is about to become extinct (race means humans not black white or w/e). Sickle cell anemia could be cured if a way to reverse and correct the genetic mutation is found.
Genetic Disorder
A genetic disorder is an illness caused by deformities in chromosomes or genes. There are single gene defects, which are caused by a single gene mutation, and multifactorial diseases, which is multiple gene mutations and often associated with an outside environmental factor. Over 4000 genetic disorders are caused by a single gene mutation. Genomic imprinting, uniparental disomy, division of recessive and dominant genes, and division of autosomal and X-linked types are all related to single genetic mutations. Genetic disorders are often called syndromes. Genotypes are written in lower case or upper case A (aa, AA, or Aa).
Cri du chat syndrome is a rare disorder. It is caused due to a partial deletion of the short arm chromosome number 5. 90% of the cases are from sporadic deletion where the other 10% is from unequal segregation. It affects every 1 in 20,000 to 50,000 births with a female to male ratio of 4:3. In French, Cri du chat means call of the cat. It got this name because infants affected with this disease will have a characteristic cry similar to a cat’s meow. Other symptoms are feeding problems, poor growth, severe cognitive speech and motor delays, behavioral problems, unusual facial features, excessive dribbling, and constipation. This is mainly most visible in toddlers.
Stem cell research is way of treating disease. It is the process of gathering cells from old embryos, which can virtually become any type of human cell. Some people think that the life is begun as soon as the egg is fertilized and consider the embryo a living being. Stem cell research is essentially destroying that embryo to form new cells. Therefore, some people find stem cell to be morally repulsive. I think it should be legal because I do not think of the embryo as a human life. I think it would be really helpful to those diagnosed with syndromes and it could be used to treat those people. I am unsure of the impact stem cell research could affect Cri du chat syndrome, but it could be helpful to many other syndromes.
Cri du chat syndrome is a rare disorder. It is caused due to a partial deletion of the short arm chromosome number 5. 90% of the cases are from sporadic deletion where the other 10% is from unequal segregation. It affects every 1 in 20,000 to 50,000 births with a female to male ratio of 4:3. In French, Cri du chat means call of the cat. It got this name because infants affected with this disease will have a characteristic cry similar to a cat’s meow. Other symptoms are feeding problems, poor growth, severe cognitive speech and motor delays, behavioral problems, unusual facial features, excessive dribbling, and constipation. This is mainly most visible in toddlers.
Stem cell research is way of treating disease. It is the process of gathering cells from old embryos, which can virtually become any type of human cell. Some people think that the life is begun as soon as the egg is fertilized and consider the embryo a living being. Stem cell research is essentially destroying that embryo to form new cells. Therefore, some people find stem cell to be morally repulsive. I think it should be legal because I do not think of the embryo as a human life. I think it would be really helpful to those diagnosed with syndromes and it could be used to treat those people. I am unsure of the impact stem cell research could affect Cri du chat syndrome, but it could be helpful to many other syndromes.
Hemophilia
A genetic disorder is an illness caused by mutations in genes or chromosomes by deletion and insertion. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. A mutated gene is passed down through a family and each generation can inherit the gene that causes the disease.
Single gene disorders can be passed on through the generations in many ways and is affected by genomic imprinting and uniparental disomy.
Hemophilia-is group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation.
There is no cure for hemophilia, but it can be controlled with regular infusions of the deficient clotting factor
Deep internal bleeding, Joint damage, transfusion, adverse reactions, intracranial hemorrage
Stem cell research- stem cells are able to renew themselves through mitotic cell division and differentiating into a diverse range of specialized cell types.
It is controversial because the research involving the creation, usage and destruction of human embryos in a really big issue right now.
I think it should be legal if it saves a lot of people lifes and cures all of the diseases in the world.
Stem cells really could potentially fix hemophilia but only if they could make chromosomes.
A genetic disorder is an illness caused by mutations in genes or chromosomes by deletion and insertion. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. A mutated gene is passed down through a family and each generation can inherit the gene that causes the disease.
Single gene disorders can be passed on through the generations in many ways and is affected by genomic imprinting and uniparental disomy.
Hemophilia-is group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation.
There is no cure for hemophilia, but it can be controlled with regular infusions of the deficient clotting factor
Deep internal bleeding, Joint damage, transfusion, adverse reactions, intracranial hemorrage
Stem cell research- stem cells are able to renew themselves through mitotic cell division and differentiating into a diverse range of specialized cell types.
It is controversial because the research involving the creation, usage and destruction of human embryos in a really big issue right now.
I think it should be legal if it saves a lot of people lifes and cures all of the diseases in the world.
Stem cells really could potentially fix hemophilia but only if they could make chromosomes.
Research Project Questions
-Explain how mutations can cause genetic disorders.
A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. These abnormalities can range from a small mutation in a single gene to the addition of an entire chromosome or even a set of chromosomes, causing a large mutation. Single gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Chromosome abnormalities are where entire chromosomes are missing, duplicated or altered in some other way. Certain genetic disorders are caused by specific mutations of certain parts of the DNA. Genetic disorders are classified by the type of mutation (point mutation, deletion, whole chromosome missing extra or both, or an extended gene). Each chromosome has different mutations that will occur if that chromosome is mutated by any one of those types. There are hundreds of genetic disorders and are all caused by different mutations.
-Describe inheritance patterns.
Inheritance patterns trace the transmission of genetically encoded traits, conditions, or diseases to offspring. The different types of inheritance are single gene, multifactorial, and mitochondrial. Single gene inheritance is when a mutation caused in a single gene follow predictable patterns of inheritance among families. Multifactorial inheritance are mutations caused by genetic factors along with environmental factors. These diseases are not genetically determined, but are based on the genetic and environmental factors and becomes much more difficult to trace. Mitochondria is only transmitted through the mother’s egg, so only females can transmit the mutation, but it will be passed on to all the children, male and female.
-Choose a particular genetic disorder.
Down syndrome is a genetic disorder where a person has 47 chromosomes instead of the normal amount, 46. This extra chromosome comes from a copy of the 21st chromosome. Down syndrome symptoms can range from mild to severe. Some of these symptoms are flattened nose, small ears, small mouth, upward slanting eyes, impulsive behavior, slow learning, short attention span and poor judgment. Along with having Down syndrome, many different medical disorders come along with the disorder. There is no treatment for Down syndrome, but certain defects may require surgery. There are many organizations and groups who are highly involved in the research of Down syndrome and have “made it their priority to understand cognition in people with Down syndrome”. (Stanford School of Medicine Research Center).
-Stem Cell Research
While researching Stem Cell Research, I came across many different websites each with extreme opinions on the topic. For example, one website I found was called Do No Harm: The Coalition of Americans for Research Ethics. I know that stem cell research is a high debated topic, but in my opinion, I think it’s important to keep an open mind about it. Personally, I want to keep an open mind, because if there is a way to find cures to currently “un-curable” diseases, I think it’s important to do so. “A stem cell is a generic cell that can make exact copies of itself indefinitely. This cell has the ability to produce specialized cells for various tissues in the body—such as heart, brain tissue, liver tissue and muscle. Scientists are able to maintain stem cells forever, developing them into specialized cells as needed” (healthscout.com). Stem cell’s have many uses, but one major use for this research would be that stem cells are able to produce tissue, this tissue could be used to treat diseases where a patient’s cells or tissue are destroyed completely. Many diseases that have no “adequate therapy” would benefit I incredibly from stem cell research, diseases such as: Alzheimer’s, Parkinson’s, diabetes, spinal cord injury, heart disease, stroke, arthritis, cancer, and burns. Stem cells are human embryo’s, which is why SCR is such a debated and controversial topic. These human embryo’s are created, used and often destroyed, which makes the debate an ethical one. One must consider both sides of this argument. One side would say that SCR is unethical because it requires the destruction of a human embryo. The other side would say that SCR is good because it offers something in the development of treatment for a wide range of diseases, such as physical trauma and genetic disorders, previously with no cure. I think personally I need to keep an open mind of SCR. Though I do have strong ethics, this research could end up saving millions of lives and curing hundreds of diseases. This relates back to my disease of Down syndrome because SCR could eventually come up with a cure for Down syndrome, which is currently un-curable.
~Maddy Kenny
A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. These abnormalities can range from a small mutation in a single gene to the addition of an entire chromosome or even a set of chromosomes, causing a large mutation. Single gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Chromosome abnormalities are where entire chromosomes are missing, duplicated or altered in some other way. Certain genetic disorders are caused by specific mutations of certain parts of the DNA. Genetic disorders are classified by the type of mutation (point mutation, deletion, whole chromosome missing extra or both, or an extended gene). Each chromosome has different mutations that will occur if that chromosome is mutated by any one of those types. There are hundreds of genetic disorders and are all caused by different mutations.
-Describe inheritance patterns.
Inheritance patterns trace the transmission of genetically encoded traits, conditions, or diseases to offspring. The different types of inheritance are single gene, multifactorial, and mitochondrial. Single gene inheritance is when a mutation caused in a single gene follow predictable patterns of inheritance among families. Multifactorial inheritance are mutations caused by genetic factors along with environmental factors. These diseases are not genetically determined, but are based on the genetic and environmental factors and becomes much more difficult to trace. Mitochondria is only transmitted through the mother’s egg, so only females can transmit the mutation, but it will be passed on to all the children, male and female.
-Choose a particular genetic disorder.
Down syndrome is a genetic disorder where a person has 47 chromosomes instead of the normal amount, 46. This extra chromosome comes from a copy of the 21st chromosome. Down syndrome symptoms can range from mild to severe. Some of these symptoms are flattened nose, small ears, small mouth, upward slanting eyes, impulsive behavior, slow learning, short attention span and poor judgment. Along with having Down syndrome, many different medical disorders come along with the disorder. There is no treatment for Down syndrome, but certain defects may require surgery. There are many organizations and groups who are highly involved in the research of Down syndrome and have “made it their priority to understand cognition in people with Down syndrome”. (Stanford School of Medicine Research Center).
-Stem Cell Research
While researching Stem Cell Research, I came across many different websites each with extreme opinions on the topic. For example, one website I found was called Do No Harm: The Coalition of Americans for Research Ethics. I know that stem cell research is a high debated topic, but in my opinion, I think it’s important to keep an open mind about it. Personally, I want to keep an open mind, because if there is a way to find cures to currently “un-curable” diseases, I think it’s important to do so. “A stem cell is a generic cell that can make exact copies of itself indefinitely. This cell has the ability to produce specialized cells for various tissues in the body—such as heart, brain tissue, liver tissue and muscle. Scientists are able to maintain stem cells forever, developing them into specialized cells as needed” (healthscout.com). Stem cell’s have many uses, but one major use for this research would be that stem cells are able to produce tissue, this tissue could be used to treat diseases where a patient’s cells or tissue are destroyed completely. Many diseases that have no “adequate therapy” would benefit I incredibly from stem cell research, diseases such as: Alzheimer’s, Parkinson’s, diabetes, spinal cord injury, heart disease, stroke, arthritis, cancer, and burns. Stem cells are human embryo’s, which is why SCR is such a debated and controversial topic. These human embryo’s are created, used and often destroyed, which makes the debate an ethical one. One must consider both sides of this argument. One side would say that SCR is unethical because it requires the destruction of a human embryo. The other side would say that SCR is good because it offers something in the development of treatment for a wide range of diseases, such as physical trauma and genetic disorders, previously with no cure. I think personally I need to keep an open mind of SCR. Though I do have strong ethics, this research could end up saving millions of lives and curing hundreds of diseases. This relates back to my disease of Down syndrome because SCR could eventually come up with a cure for Down syndrome, which is currently un-curable.
~Maddy Kenny
Genetic Disorder Research
- Mutations can lead to a genetic disorder because the gene that is passed on to the offspring or because of a gene that mutates over time. The only time that a disorder would arise is if the compatible DNA strand for the mutated strand line up.
- Inheritance patterns follow the passage of genetic information.
Down Syndrome:
1. This genetic disorder is caused by a person having one extra chromosome then the usual amount. This is a trait passed to the offspring by the parents.
2. In this past year researchers are saying that the cure for Down syndrome is ‘within reach.’ Researchers say that the cure will not be found anytime this year, and possibly not the next year, but it is getting closer.
3. The physical development of a person with Down syndrome is usually slower then ‘normal.’ Most people who have Down syndrome never reach their adult height. People might also have delayed mental development. When a person with Down syndrome is older they become more aware of their illness and ‘limitations’ which lead to frustration and anger.
4. Down syndrome is the most common cause of birth defects. Also the risk for an offspring to have Down syndrome is a dramatic increase when the female reaches the age of 35 or older.
Stem Cell Research:
a. It’s research on a human embryo cells that can divide to replenish other cells without a limit.
b. It’s controversial because this research can help find cures and treatments for disorders.
Although some people believe that it’s the same as taking a human life.
c. I believe is should be illegal if it is taking a human life. If there were another way to do this research and testing, that would be a much better choice. It’s great that it may be able to help find cures for disorders, but it’s not okay to take another life to do so. Especially one that hasn’t had a chance in the world yet.
d. There isn’t any stem cell research on Down syndrome that I could find. If they were to find a cure many people would not have to go through the difficulties in life and the frustration of having Down syndrome.
- Inheritance patterns follow the passage of genetic information.
Down Syndrome:
1. This genetic disorder is caused by a person having one extra chromosome then the usual amount. This is a trait passed to the offspring by the parents.
2. In this past year researchers are saying that the cure for Down syndrome is ‘within reach.’ Researchers say that the cure will not be found anytime this year, and possibly not the next year, but it is getting closer.
3. The physical development of a person with Down syndrome is usually slower then ‘normal.’ Most people who have Down syndrome never reach their adult height. People might also have delayed mental development. When a person with Down syndrome is older they become more aware of their illness and ‘limitations’ which lead to frustration and anger.
4. Down syndrome is the most common cause of birth defects. Also the risk for an offspring to have Down syndrome is a dramatic increase when the female reaches the age of 35 or older.
Stem Cell Research:
a. It’s research on a human embryo cells that can divide to replenish other cells without a limit.
b. It’s controversial because this research can help find cures and treatments for disorders.
Although some people believe that it’s the same as taking a human life.
c. I believe is should be illegal if it is taking a human life. If there were another way to do this research and testing, that would be a much better choice. It’s great that it may be able to help find cures for disorders, but it’s not okay to take another life to do so. Especially one that hasn’t had a chance in the world yet.
d. There isn’t any stem cell research on Down syndrome that I could find. If they were to find a cure many people would not have to go through the difficulties in life and the frustration of having Down syndrome.
Subscribe to:
Posts (Atom)