My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…
Assignment #1: “Curse and a Blessing” Question 1 Jared Diamond, author of “Curse and Blessing”, wrote this piece regarding the disease known as Tay-Sachs. His main hypothesis consists of the idea that Tay-Sachs is prominent in the eastern European Jewish culture, which seemingly has a lower rate of deaths from tuberculosis. Children who receive the homozygous recessive allele gained from Tay-Sachs heterozygous parents, suffer uncontrollable laughter, shaking, muscle control, drooling, sometimes even blindness. This is clearly miserable for the homozygous children, however Diamond exams the idea of heterozygous carriers having benefits from carrying the recessive allele. Analyzing the history of when this allele began to spread, it was observed…
Most people have two normal copies of the alpha-1 antitrypsin gene. But individuals with AATD have one normal copy and one damaged copy, or they have two damaged copies. A child must inherit one abnormal gene from each parent to develop the disease. If a child inherits a normal gene from one parent and an abnormal gene from the other, he or she will only be a carrier. Carriers produce lower-than-normal levels of the alpha-1 antitrypsin protein, but they still have enough of it to protect their lungs.…
There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…
The diseases are rare, but common in Ashkenazi in eastern and central Europe in Jewish heritage. The condition affects infants and it leads to death…
Dena Davis believes the child has the right to an open future. If at any point the parents choose to have the child with the Tay-Sachs gene over a healthy one, then Davis’ argument will apply completely putting the parent in the wrong. If the parent does not know that they were carriers, then the baby born in an un-ideal circumstance rather than to be the parents’ fault. Since now the parents do know the fact the baby will suffer and have a very limited life, Davis would say it would be wrong to have the baby at this point in time. If there is a limiting factor such as the Tay-Sachs gene that inhibits a child to have a full quality life, then according to Davis, the baby should not be had.…
About 50% of the time when a baby is diagnosed before or after they're born, a parent is a carrier or is also affected by Treacher Collins Syndrome. Mutations in the TCOF1, POLR1C, and/or POLR1D gene normally cause Treacher Collins syndrome. The TCOF1 gene are the most common mutation cause of the disorder, causing it in 81 to 93 percent of all cases. POLR1C and POLR1D genes mutations, however, only cause 2 percent of cases. In individuals without an known mutation in one of these genes is accounted for as…
A genetic mutation on chromosome seventeen causes a shortage of an enzyme aspartoacylase (ASPA) gene; this is an inherited autosomal recessive trait. That is, a child must inherit one copy of the mutated gene from each parent to develop the disease. Aspartoacylase serves as a metabolic component that breakdowns the brain element known as N-acetyl-aspartate (NAA). When NAA is not broken down properly, it causes a decline of the white substance (myelin) in the brain.…
The genetic disorder could be fixed by gene therapy. To make the tissues and organs work correctly, genetic therapy needs a correct copy of the affected gene to try and eliminate…
Both male and females can be carriers of the abnormal gene, which causes Tay Sachs and still live normal lives. The Tay Sachs disease is common among the Eastern European (Ashkenazi) if Jewish descent. The disease is also common among the French Canadians (non- Jewish) near the St. Lawerence River and the Cajun community in Louisiana. In the general population, 1 out of 250 people are carriers. If two carriers of the Tay Sachs gene decide to have a child, there is a twenty-five percent probability that their child with have Tay Sachs.…
Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…
Imagine laying in bed and suddenly feeling hungry but unable to get up to go to the fridge, unable to call someone to help, lift a finger, and then even if a loved one were to bring food, not having the ability to swallow the food without the assistance of someone or something. This is the life of someone with Amyotrophic Lateral Sclerosis (ALS), better known to many as Lou Gehrig's disease. Now, imagine walking into the kitchen to eat for the first time of the day, but for some reason already feeling full or walking up to the sink to wash a pile of dishes that were left the night before and seeing that nothing was there anymore. Having nothing to do but turn to a loved one who lives there to help with the confusion only to find out that this…
In the medical field, there are several medical conditions and diseases that we come across. Some are popular and some we don't often hear about. The disease I would like to talk about is called Amyotrophic Lateral Sclerosis also known as ALS. Many people know ALS to be known as Lou Gehrig’s Disease. This disease is progressive and is a type of motor neuron that slowly breaks down nerve cells and die.…
Dementia is an umbrella term. By this I mean that it covers many different conditions. Each condition affects the brain and can lead to dementia due to brain de deterioration and loss of function. Wernicke-Korsakoff syndrome- this is a brain disorder in which not getting enough B1 vitamin will affect your brain function. B1 vitamin is used in the brain to change sugar into energy.…
Tay-Sachs is a deadly disease present in infants and newborns. The disease is passed on by people from many different descents and regions. There are no known links to an explanation why these descents are known carriers of the gene. The gene is known to not be present within the first 3-6 months, growing and thriving like a healthy child would. A tay sachs kid gets its genes from if both the parents have the tay sachs gene and hand it off to the child.…