When Research is Personal: A GM1 Gangliosidosis Story
Cassie Bebout is an Auburn University undergraduate student, on track to graduate this May. She chose the school for one primary reason- it is the home of Dr. Doug Martin…
First Potential Gene Therapy for Tay-Sachs Disease Produces Positive Results at Three Month Mark
Tay-Sachs disease is a rare, genetic and sadly fatal condition. It's a neurodegenerative disorder caused by an impaired production of the β-Hexosaminidase A enzyme (HEXA). Symptoms of this condition include listlessness, diminishing…
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Potential Gene Therapies for Tay-Sachs, Sandhoff, and GM1 Gangliosidosis Now Have Worldwide Licenses
Tay-Sachs disease and Sandhoff disease (also known as GM2 Gangliosidosis), and GM1 Gangliosidosis are neurodegenerative conditions. They are a result of a defective enzyme. This enzyme causes toxic gangliosides to accumulate within the…
<a href="https://pixabay.com/users/felixioncool/">felixioncool</a> / Pixabay
$1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial
A $1.4 million dollar donation to the University of Massachusetts Medical School will help to fund research into a gene therapy for Tay-Sachs disease as it transitions from pre-clinical to…
Source: Pixabay.com
Take Me To Church: George Church sees the future in your genes
In Matthew Hutson’s contribution to Medium’s “Future Human” series, he interviews George Church. Church, the Harvard geneticist, molecular engineer, and chemist has been hugely influential in the understanding of DNA.…
<a href="https://pixabay.com/users/DarkoStojanovic/">DarkoStojanovic</a> / Pixabay
New Expanded Access Trials For FENIB and LOTS Patients Set to Begin
According to a story from globenewswire.com, the corporation Retrotope recently announced the initiation of single-patient, expanded access trials of its experimental product RT001. The patients involved have familial encephalopathy with neuroserpin…
<a href="https://pixabay.com/users/Free-Photos/">Free-Photos</a> / Pixabay
What To Do With The Results Of Genetic Testing
Despite the obvious cliché nature of the old adage, knowledge really is power. Technology and medical advancements give doctors and researchers more information than anyone could have fathomed even a…
<a href="https://pixabay.com/users/Pexels/">Pexels</a> / Pixabay
Photographer Captures Daily Life of Rare Families with Dignity and Grace
Rare disease began shaping acclaimed photographer, Karen Haberberg's family years before she was born. Her parents had given birth to her older brother, who was diagnosed with Tay-Sachs. Tay-Sachs is a…
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How Tay-Sachs Dragon Parenting Will Flip Your World
When your child is diagnosed with Tay-Sachs, what should you do? How should you cope? A baby with Tay-Sachs disease appears healthy at birth and seems to be developing normally…
