Other ways that women can screen for the #TaySachs gene is between the 10th and 12th weeks of pregnancy, where they can get a chorionic villus sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for analysis. Between the 15th and 18th weeks of pregnancy, a woman can also have an amniocentesis to test for the Tay-Sachs gene.
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There are ways to test and screen for the #TaySachs gene with a simple blood test. If both the mother and father carry the Tay-Sachs gene, an obstetrician/gynecologist may refer the couple to a genetic counselor for more information.
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Happy Mother’s Day! 🌸 We hope all you Mom’s are getting spoiled today by your loved ones. You deserve it!⁣
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There are three forms of #TaySachs - however the classical form of Tay-Sachs disease often occurs during infancy. This is the most common form and is usually fatal during early childhood. There are also juvenile and adult forms of Tay-Sachs disease, but these are more rare. Children with the juvenile form, also called the subacute form, develop symptoms later than those with the infantile form, and they usually live until later in childhood or adolescence.
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Did you know? Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. An infant with #TaySachs is born without one of those important enzymes, hexosaminidase A (HEXA). So, as those fatty proteins build up in the brain, they impact the baby's sight, hearing, movement, and mental development.
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Chief R&D Officer at Sio Gene Therapies, Gavin Corcoran stated “We are proud to bring the first potentially disease-modifying treatment for GM2 gangliosidosis to the clinic, which is a milestone both for Sio, for patients and for the field of gene therapy… AXO-AAV-GM2 has the potential to change the course of this disease and help affected children attain and retain important neurodevelopmental milestones.” We look forward to the next steps as researchers develop treatment for this disease!
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Blu Genes Foundation is raising funds to advance gene therapy and find a cure for genetic disorders, beginning with Tay-Sachs disease. We believe in offering hope where currently there is none. Please help us in making a difference, and donate today at the link in our bio.
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Did you know? GM2 gangliosidosis is a set of rare, monogenic neurodegenerative lysosomal storage disorders caused by mutations in the genes that encode the enzyme β-Hexosaminidase A. It can be categorized into 2 diseases, Tay-Sachs disease and Sandhoff disease. Children affected by this suffer from a progressively debilitating disease and reduced life expectancy.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #impact #UMassMedical #UMass #ClinicalTrial ...

Dr. Miguel Sena-Esteves & Dr. Heather Gray-Edwards at #UMassMedical have been researching the causes and potential therapies for lysosomal storage diseases such as #TaySachs disease. There have been significant advances in the field including development of the #genetherapy vector used to deliver functioning copies of the defective genes that cause disease. Read more at the link in our bio. ⁣
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The first patient in Sio Gene Therapies clinical trial for AXO-AAV-GM2 was dosed using an innovative neurosurgical technique. Sio licensed exclusive worldwide rights from #UMassMedicalSchool for the development and commercialization of gene therapy programs, including Tay-Sachs diseases. Read more at the link in our bio.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #impact #UMassMedical #UMass #ClinicalTrial ...

A clinical trial to evaluate the safety and efficacy of Substrate Reduction Therapy using a drug called miglustat has been conducted for late onset Tay-Sachs. There were some prominent side effects seen and reports of benefits to individual patients with #TaySachs disease treated with miglustat. Read more at the link in our bio. ⁣⁣
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Today marks the first day of Spring! 🌸😁 We look forward to brighter and longer days ahead!
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Tay-Sachs is a lysosomal storage disorder that is caused by a mutation in the gene responsible for the vital enzymes called beta Hex-A. The role of these enzymes is to degrade a fatty substance or lipid called GM-2 ganglioside. In the absence of the enzymes, GM-2 accumulates abnormally in cells, especially in the nerve cells, or neurons, of the brain.⁣⁣
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Did you know that in 1969, Dr Shintaro Okada and Dr. John S. O’Brien published the discovery of the Hexosaminidase A (HexA) deficiency in Tay-Sachs? Just two years later in 1971, the first Tay-Sachs community screening event took place in Maryland. It is crazy to think we are only 50 years from these inaugural events! ⁣
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Blu Genes Foundation is committed to offering hope, where currently, there is none.⁣
This need is the driving force behind our mission of advancing gene therapy research for rare genetic disorders. #GeneTherapy research takes dedicated time and funding support to bring treatments from bench to bedside. Donate today at the link in our bio to help move this research forward.
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The National Tay-Sachs & Allied Disease Association is celebrating their 43rd Annual Family Conference towards the end of April. This virtual conference ensures the ongoing safety of vulnerable individuals and their families. It is so important for families to have a safe space to support and learn from one another, and we are grateful for these conferences that see over 400 registants! @NTSAD ⁣⁣⁣
Register today at the link in our bio. ⁣⁣⁣
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We know that Tay-Sachs is a genetic disorder caused by the absence of enzyme HexA. But what IS an enzyme?⁣
An enzyme is a complex pipe-like system of membranes that occupies much of the cytoplasm in cells and which contains many of the enzymes which are responsible for the breakdown of metabolic waste into reusable parts.⁣
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Happy International Women’s Day! Thank you to all the strong, smart, courageous women who inspire us everyday. ❤️#IWD2021#IWD
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The #genetherapy research in #TaySachs at #UMass has now received FDA Clearance of Investigational New Drug (IND) and is officially the first potentially curative treatment for #TaySachs disease! These are major strides for the gene therapy and genetic disorder world, and we are excited to see what’s next. Thanks to our donors, there is hope for Tay Sachs patients.
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Rare is many. 👪⁣
Rare is strong. 💪 ⁣
Rare is proud. ❤️⁣
Today is national #RareDiseaseDay, where we raise awareness for patients, families and care providers around the world that are affected by rare diseases, such as #TaySachs. Join the movement, share on social - and help support us! Link in bio⁣
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