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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Latest News

Kathleen M. Flynn NTSAD's new CEO
Kathleen started at NTSAD this November. Read the press release. Read More
Make the Rare Diagnosis
Raising awareness about the importance of earlier diagnosis for Canavan, GM1, Sandhoff and Tay-Sachs. Read More
Aspa's Canavan Clinical Trial
CANaspire Canavan gene therapy trial enrolling now at MGH in Boston. Read More

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News

Latest Tay Sachs Disease News and Research

Using genetic screening for selecting the 'best' embryo in IVF
Each year, tens of thousands of babies are born in the United States as the result of IVF (in vitro fertilization) – where several eggs are fertilized outside the mother's body and then an embryo is selected for transfer into her womb.
A new combination therapy for treating rare, fatal Sanfilippo syndrome in children
A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.
Study underscores the need for more precise rare disease definitions
Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.

Latest Sandhoff Disease News and Research

A new combination therapy for treating rare, fatal Sanfilippo syndrome in children
A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.
New drug lures stem cells to damaged tissue, improves treatment efficacy
Scientists at Sanford Burnham Prebys Medical Discovery Institute have created a drug that can lure stem cells to damaged tissue and improve treatment efficacy--a scientific first and major advance for the field of regenerative medicine.
Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis
Since its clinical description in 1881, Tay-Sachs disease has had almost totemic significance as a cruel and relentless genetic condition that destroys the developing brain of babies and young children.

Latest Canavan Disease (Leukodystrophies) News and Research

Human stem cells show promise against fatal children's diseases
Scientists have used human stem cells to dramatically improve the condition of mice with a neurological condition similar to a set of diseases in children that are invariably fatal, according to an article in the June issue of the journal Cell Stem Cell.

Visit our library of eNews for copies of past newsletters, research updates, topics of the week and more

Geneticist Ricki Lewis blogs from the cutting edge of genomics, including genetic testing, stem cells, gene therapy and more.

Pandemic Predictions Take a Turn Towards the Positive – Finally

An end may be in sight. For the first time since the pandemic began, I listened to a press briefing from medical…

The post Pandemic Predictions Take a Turn Towards the Positive – Finally appeared first on DNA Science.
Please Help My Liberian “Son” Achieve his Dream as an Infectious Disease Physician

For many years I’ve ended editions of my human genetics textbook with a request for students to email me to share their…

The post Please Help My Liberian “Son” Achieve his Dream as an Infectious Disease Physician appeared first on DNA Science.
Sandy From the Mountains Dies, Leaving a Message to the Unvaxxed

Five days ago, Sandy’s husband allowed the staff in the ICU to turn off her life support, and COVID claimed yet another…

The post Sandy From the Mountains Dies, Leaving a Message to the Unvaxxed appeared first on DNA Science.

Latest Gangliosidosis News and Research

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis
Since its clinical description in 1881, Tay-Sachs disease has had almost totemic significance as a cruel and relentless genetic condition that destroys the developing brain of babies and young children.
New gene therapy shows promising results for treating neurodegenerative disorders
A new gene therapy approach designed to replace the enzyme that is deficient in patients with the inherited neurodegenerative disorders Tay-Sachs and Sandhoff diseases successfully delivered the therapeutic gene to the brains of treated mice, restored enzyme function, and extended survival by about 2.5-fold.
Researchers devise new genetic technique for IVF embryos
Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.