Update
The Biology project has past, but I would like to try and continue updating this blog. Only, I may not necessarily focus on Tay-Sachs directly. Currently, for an English career project, I am researching and eventually writing a argumentative paper about gene therapy. Though Tay-Sachs may not currently have a cure, gene therapy is a possibility to look towards. There hasn't been official human testing, just animals and it has been used for relieving symptoms, but that is about it so far. In my paper, I am arguing for gene therapy. There are views that gene therapy is dangerous/very risky and it could lead to genetic doping. I'm not saying these things aren't possible, but gene therapy is a relatively new procedure and there are two forms of gene therapy: Somatic (body cells) and Germline (sex cells). Somatic cells only affects an individual and currently has been pretty successful. Germline affects the individual but could also affect offspring. Currently, affects aren't very well known, but it could potentially take the bad gene. Still, just want to make sure that I am only a high school student interested in the topic and not a medical professional, so though the information may be correct, it may not be right for you. If any information isn't correct or anything else, tell me and I'll see to it. Thank you very much.
More Facts
More Information
As said before, Tay-Sachs is a heredity disease. It is recessive, where both parents have to carry the trait. The main research so far on how it started was way back, when a particular group of Jewish people, the Ashkenazi, had married and had kids in pretty close relations. Eventually, someone left the group into another, passing on the recessive trait. If a couple were to have kids, they have a 25% chance of having a child without any trait of Tay-Sachs, a 50% chance of having a child with the trait (carriers), and a 25% of having a child that actually had Tay-Sachs. Nowadays, anybody has a possible chance of having Tay-Sachs (1 in 360,000), but the ones mainly affected are the Ashkenazi (carriers: 1 in 30 chance, Tay-Sachs: 1 in 3,600 chance), the French Canadians in the Quebec area and the Cajuns in Louisiana (carriers: 1 in 30 chance for both backgrounds), the Irish (1 in 50 chance of carrying) and the Amish.
Normally, life for someone with Tay-Sachs can be pretty limiting. Someone can have started out with great mobility, attention and learnt skills, but as the disease progresses, these previously learned skills are reduced and mobility and use of the senses decreases. The time for things to happen depends on the age (type) when someone gets Tay-Sach. The later the symptoms means a more longer lasting time as the body slowly is damaged by the build up of GM2 ganglioside.
Interesting Facts
As said before, Tay-Sachs is a heredity disease. It is recessive, where both parents have to carry the trait. The main research so far on how it started was way back, when a particular group of Jewish people, the Ashkenazi, had married and had kids in pretty close relations. Eventually, someone left the group into another, passing on the recessive trait. If a couple were to have kids, they have a 25% chance of having a child without any trait of Tay-Sachs, a 50% chance of having a child with the trait (carriers), and a 25% of having a child that actually had Tay-Sachs. Nowadays, anybody has a possible chance of having Tay-Sachs (1 in 360,000), but the ones mainly affected are the Ashkenazi (carriers: 1 in 30 chance, Tay-Sachs: 1 in 3,600 chance), the French Canadians in the Quebec area and the Cajuns in Louisiana (carriers: 1 in 30 chance for both backgrounds), the Irish (1 in 50 chance of carrying) and the Amish.
Normally, life for someone with Tay-Sachs can be pretty limiting. Someone can have started out with great mobility, attention and learnt skills, but as the disease progresses, these previously learned skills are reduced and mobility and use of the senses decreases. The time for things to happen depends on the age (type) when someone gets Tay-Sach. The later the symptoms means a more longer lasting time as the body slowly is damaged by the build up of GM2 ganglioside.
Interesting Facts
- The most common form, (Classic) Infantile Tay-Sachs, normally first showing symptoms around the months of 3 to 6, but the damage actually occurs before birth
- The mutation happens on chromosome 15
- Though it has a pretty specific trait, there are other diseases very similar to Tay-Sachs, like Sandhoff disease
- Even if Tay-Sachs is a very brutal disease, it isn't really a main focus on cures (though gene therapy and others can help) because so few actually have to be a huge concern
- Tay-Sachs is a lipid storage disorder
- Finding insurance to help is hard, but you must be persistent
- Hospices are a great place to help care and also find support for the family
- Best to take a enzyme and DNA test to get more accurate information if you have the trait for Tay-Sachs
Parents
I haven't had much luck with finding somebody answering my interview questions quite yet, but there was someone that gave a link to me under their organization (NTSAD) about parents coping with their children with life limiting diseases, from getting the diagnosis to finding a support area to the end of their child's life.
http://www.youtube.com/watch?v=XqWcO7f47v4
http://www.youtube.com/watch?v=XqWcO7f47v4
Types of Tay-Sachs
There are three main types of Tay-Sachs. The most common form is Classic Infantile, which is when symptoms appear as a baby. The symptoms also tend to be more intense and life span tends to be very short. This is usually caused majorly by the lack of any hex A enzyme. Inability to hear, see or move are just a few symptoms.
Juvenile Tay-Sachs occur at a later age. Symptoms are the same as, but progress more slowly and aren't as intense. Symptoms can start to appear anytime from the age 2 to 10. Similar to the Infantile version where symptoms appear at about 3 to 6 months. This is also by a lack of the enzyme hes A, but there is probably a very small amount that had been able to keep the GM2 ganglioside lipid from growing as quickly as Infantile. By 10 to 15 years of age, the build up causes the child to stop being responsive, leading to death in a few years.
Late-Onset Tay-Sachs tends to be misdiagnosed way too often for diseases like ALS. Late-Onset Tay-Sachs symptoms start to show in adults from their twenties to their thirties. This progresses a lot slower than Juvenile and Infantile Tay-Sachs but the symptoms are still pretty similar. The hex A enzyme in people with Late-Onset tends to have some hex A that has been able to maintain the build up of excess lipid until now.
In general, babies with Infantile tend to lack all hex A. Juvenile contains a little more than Infantile, resulting in the later appearances of symptoms and not as severe. Late-Onset contains even more of the needed hex A, meaning symptoms and deterioration takes longer.
Juvenile Tay-Sachs occur at a later age. Symptoms are the same as, but progress more slowly and aren't as intense. Symptoms can start to appear anytime from the age 2 to 10. Similar to the Infantile version where symptoms appear at about 3 to 6 months. This is also by a lack of the enzyme hes A, but there is probably a very small amount that had been able to keep the GM2 ganglioside lipid from growing as quickly as Infantile. By 10 to 15 years of age, the build up causes the child to stop being responsive, leading to death in a few years.
Late-Onset Tay-Sachs tends to be misdiagnosed way too often for diseases like ALS. Late-Onset Tay-Sachs symptoms start to show in adults from their twenties to their thirties. This progresses a lot slower than Juvenile and Infantile Tay-Sachs but the symptoms are still pretty similar. The hex A enzyme in people with Late-Onset tends to have some hex A that has been able to maintain the build up of excess lipid until now.
In general, babies with Infantile tend to lack all hex A. Juvenile contains a little more than Infantile, resulting in the later appearances of symptoms and not as severe. Late-Onset contains even more of the needed hex A, meaning symptoms and deterioration takes longer.
Importance
Tay-Sachs is a rare genetic disease that mainly affects babies with a quick rate leading to death by the age of about 5. Knowledge of this disease, how one may get the disease and knowing the symptoms can better allow treatments/cures, find/learn about your genetic history and possibilities of passing on a trait and diagnose the child earlier. Though a cure isn't currently available, scientists are hard at work figuring some way to attack the disease. Whether it's on the side of finding ways to slow or prevent more build up or getting rid of the build up, there has been breakthroughs. Family members could possibly not have to worry about losing a member so early on. Not only is the research for treatment of this disease specific, but it can also apply to other diseases that lack a enzyme like Tay-Sachs, or take away lipids in similar lipid storage disorders
Controversies on Some Treatments/Cures
Like in the previous post, there is hope in treatment and even better, a cure, but the problem is, many of the ways so far has some controversy. For example, one kind of treatment they are looking into is stem cells. One way, Embryonic Stem Cell Replacement Therapy, has four possible sources, but 3 (the controversial ones) come from embryonic/blastocyst (stage before the official embryo stage) that would most likely end up dying anyways. For example, stem cells could be taken from leftover embryos from in vitros, but whether it is humane to take cells of a embryo is the main problem.
Aside from this, I found this book, Genes & Disease: Tay-Sachs Disease by Jeri Freedman. It contains information of not only the disease alone, but also research for treatments/cures, the cause of the disease, the history and more.
Research on Cures
Scientists are working on cures for Tay-Sachs. Different treatments approach the disease on different points. The top focus is Gene Therapy. Gene Therapy for Tay-Sachs would be adding the missing Hex-A enzyme that was missing. They are testing on different animals with different variations to find one that would work and be approved to be used.
http://www.genome.gov/10001220 <--- I've posted this website previously, but here is a research page about Tay-Sachs and testing to see if your offspring could be at risk
Another treatment, GM2 Ganglioside Inhibitors or Substrate Inhibitors, focuses on the lipid build up. This cure is more of a treatment; it hopes to slow down the symptoms of Tay-Sachs. It focuses on trying to reduce the amount of lipids produced to a rate the Hex-A amount present can reduce to.
If you want to find out more, http://019221f.netsolhost.com/research.shtml#gt , this website is a foundation about Tay-Sachs. You can learn more about how to donate, find the cure research in progress, stories of people that has had it and more links for information.(main website is www.CureTay-Sachs.org)
This website http://www.ntsad.org/index.php/tay-sachs/research also gives more information about Tay-Sachs, but this has more than just Tay-Sachs. You can find information on stories, research, types and some history of how Tay-Sachs was discovered.
http://www.genome.gov/10001220 <--- I've posted this website previously, but here is a research page about Tay-Sachs and testing to see if your offspring could be at risk
Introduction into Tay-Sachs
Tay-Sachs is a rare and fatal genetic disease that could cause death at a really early age. Generally symptoms of the most common form, Classic Infantile Tay-Sachs, don't occur until about 3 to 6 months after the birth of a child, but once it reaches this age, symptoms quickly appear and in only a few years, the end result is death by the time they are about 5. The genetic reason of this disease because of a lack of an enzyme known as Hexosaminidase A (or Hex A), which. Without the enzyme, the lipid GM2 ganglioside accumulates at a abnormally rate, progressively damaging cells.
This was discovered by a few people. Warren Tay was the one that discovered a cherry spot on the retina in 1881, which is another sign of Tay-Sachs. Bernard Sachs gave the first description cellular change. The missing enzyme causing this disease was discovered by Dr. Shintaro Okada and Dr. John S. O'Brien
Common symptoms include: ability to hear, see or move is lost, smiling, crawling, turning over and reaching out stops. Basically, it stops/rewinds the development of a baby's growth. As of now, there aren't any treatments, but scientists has been trying different ways in hopes of a treatment. For the time being, there is therapy to alleviate some of the pain.
This is important because this disease limits how long a child (Classic Infantile) would actually live without it. It also leaves the family devastated for not only having their own child die, but at that young of an age.
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