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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers #hexa #missingenzyme

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers #hexa #missingenzyme
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Today marks the first day of Spring! 🌸😁 We look forward to brighter and longer days ahead!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #spring

Today marks the first day of Spring! 🌸😁 We look forward to brighter and longer days ahead!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #spring
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers #hexa #missingenzyme

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers #hexa #missingenzyme
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers #hexa #missingenzyme

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers #hexa #missingenzyme
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #NTSAD #support #familysupport #rarediseasesupport

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #NTSAD #support #familysupport #rarediseasesupport
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #NTSAD #support #enzyme

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #NTSAD #support #enzyme
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #impact #IWD2021 #InternationalWomensDay #StrongWomen #ChooseToChallenge

Happy International Women’s Day! Thank you to all the strong, smart, courageous women who inspire us everyday. ❤️#IWD2021#IWD
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #impact #IWD2021 #InternationalWomensDay #StrongWomen #ChooseToChallenge
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #research #IND #FDA

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #research #IND #FDA
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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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #genetherapy #research  #cure #linkinprofile #therapy #labresults #rarediseaseday  #offerhope

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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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #genetherapy #research #cure #linkinprofile #therapy #labresults #rarediseaseday #offerhope
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#TaySachs disease is a rare and fatal genetic disorder that often strikes in infancy. Although appearing healthy at birth, babies with Tay-Sachs become increasingly debilitated as the disease progresses. Learn more about Tay-Sachs and how we are working towards a cure, and raising awareness. 
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #genetherapy #research  #cure #linkinprofile #therapy #labresults #didyouknow #offerhope

#TaySachs disease is a rare and fatal genetic disorder that often strikes in infancy. Although appearing healthy at birth, babies with Tay-Sachs become increasingly debilitated as the disease progresses. Learn more about Tay-Sachs and how we are working towards a cure, and raising awareness.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #genetherapy #research #cure #linkinprofile #therapy #labresults #didyouknow #offerhope
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We are extremely excited to know that our first major philanthropic investment with #UMass was a home run. Therapy is in a clinical trial treating infants with Tay Sachs disease. This is hope for a long and healthier future for any families faced with this diagnosis.  We are looking to our next exciting opportunity to advance research!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #research #IND #FDA

We are extremely excited to know that our first major philanthropic investment with #UMass was a home run. Therapy is in a clinical trial treating infants with Tay Sachs disease. This is hope for a long and healthier future for any families faced with this diagnosis. We are looking to our next exciting opportunity to advance research!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #research #IND #FDA
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#BluGenesFdn’s commitment, with your support, ultimately advanced gene therapy research to being the first-in-human clinical trial and a world first treatment option for #TaySachs disease. This support was the catalyst in moving research from the preclinical phase to human trials. It allowed researchers to take more than a decade of scientific discovery into the clinic, where it will directly impact patient lives.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #randomactofkindness #makekindnessthennorm #explorethegood

#BluGenesFdn’s commitment, with your support, ultimately advanced gene therapy research to being the first-in-human clinical trial and a world first treatment option for #TaySachs disease. This support was the catalyst in moving research from the preclinical phase to human trials. It allowed researchers to take more than a decade of scientific discovery into the clinic, where it will directly impact patient lives.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #randomactofkindness #makekindnessthennorm #explorethegood
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“It is unexpected. It is shocking. It is overwhelmingly devastating, and it is a whole lot of other things for which there are no words.” Blu Genes began because of a personal mission to find a cure for a rare and fatal #geneticdisorder - specifically #TaySachs. But now we know there is a much greater need; the need to advance gene therapy research for as many rare diseases as we can.  More research, more funding and more awareness is required for each unique disease.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #annualteaevent #event #throwback

“It is unexpected. It is shocking. It is overwhelmingly devastating, and it is a whole lot of other things for which there are no words.” Blu Genes began because of a personal mission to find a cure for a rare and fatal #geneticdisorder - specifically #TaySachs. But now we know there is a much greater need; the need to advance gene therapy research for as many rare diseases as we can.  More research, more funding and more awareness is required for each unique disease.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #annualteaevent #event #throwback
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Do you have any annual #FamilyDay traditions? 👪  Family Day is a time set aside to focus on getting closer to your loved ones. We hope you can spend some quality time with your Family today - safely! 
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #genetherapy #research #labresults #familyday #family #lovedones #familytime

Do you have any annual #FamilyDay traditions? 👪 Family Day is a time set aside to focus on getting closer to your loved ones. We hope you can spend some quality time with your Family today - safely!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #genetherapy #research #labresults #familyday #family #lovedones #familytime
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Happy #ValentinesDay! 💖 Spread love to your partner, family, friends, and whoever needs it today! 
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #genetherapy #research #love #valentinesday #happyvalentinesday #valentine

Happy #ValentinesDay! 💖 Spread love to your partner, family, friends, and whoever needs it today!
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #care4rare #awareaboutrare #rarewarrior #genetherapy #research #love #valentinesday #happyvalentinesday #valentine
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As with many genetic disorders, there is currently no cure for #TaySachs. Right now, the focus is on providing comfort in managing a patient’s symptoms. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers

As with many genetic disorders, there is currently no cure for #TaySachs. Right now, the focus is on providing comfort in managing a patient’s symptoms. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers
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Advance research, provide hope, and raise awareness. We hope you will join us as we strive to reach our goals in advancing gene therapy for #TaySachsDisease. Donate today to help us make a difference! 
Link in bio
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers

Advance research, provide hope, and raise awareness. We hope you will join us as we strive to reach our goals in advancing gene therapy for #TaySachsDisease. Donate today to help us make a difference!
Link in bio
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers
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We are so grateful to have such loyal supporters - both individual and corporate. Your impact has truly made a difference in advancing gene therapy. Each donation gifted to #BluGenes granted us the ability to have made the $1.8 million commitment to #UMassMedical in 2018. Follow us to learn more about what we are doing to advance #genetherapy. 
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers

We are so grateful to have such loyal supporters - both individual and corporate. Your impact has truly made a difference in advancing gene therapy. Each donation gifted to #BluGenes granted us the ability to have made the $1.8 million commitment to #UMassMedical in 2018. Follow us to learn more about what we are doing to advance #genetherapy.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #impact #positiveimpact #makeadifference #researchers
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#WorldCancerDay reminds us that our commitment to act will lead to powerful progress in reducing the global impact of Cancer. #BluGenes is focused on raising funds for rare diseases such as #TaySachs, but there are many forms of rare cancers that also need support. Let’s come together to create a cancer-free world, with lasting, positive change. Donate today at the link in our bio to make a lasting and positive change for treating rare-diseases.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #worldcancerday

#WorldCancerDay reminds us that our commitment to act will lead to powerful progress in reducing the global impact of Cancer. #BluGenes is focused on raising funds for rare diseases such as #TaySachs, but there are many forms of rare cancers that also need support. Let’s come together to create a cancer-free world, with lasting, positive change. Donate today at the link in our bio to make a lasting and positive change for treating rare-diseases.
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#BluGenesFdn #babies #children #raredisease #taysachsdisease #infant #blugenes #geneticdisorder #infancy #hope #taysachs #showyourrare #rarediseaseawareness #didyouknow #facts #taysachscarriers #taysachsstats #worldcancerday
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