Azafaros Highlights New Hope for Rare Lysosomal Diseases
source: shutterstock.com

Azafaros Highlights New Hope for Rare Lysosomal Diseases

In the roulette wheel of rare genetic diseases, there are many heart-breaking conditions. GM1 gangliosidosis, Tay-Sachs disease, and Neimann-Pick disease are three of the rare lysosomal diseases that have devastating…

Continue Reading Azafaros Highlights New Hope for Rare Lysosomal Diseases
Friends in the Fight: Athlete’s Loss Inspires Support for Tay-Sachs Research via Uplifting Athletes’ Young Investigator Draft
Photo courtesy of Greg Hadley and Uplifting Athletes

Friends in the Fight: Athlete’s Loss Inspires Support for Tay-Sachs Research via Uplifting Athletes’ Young Investigator Draft

In the hallowed halls of Colgate University, a young man named Greg Hadley found his calling in an unexpected place: the field of rare diseases. Little did he know that…

Continue Reading Friends in the Fight: Athlete’s Loss Inspires Support for Tay-Sachs Research via Uplifting Athletes’ Young Investigator Draft
Interview: Living a Full and Filling Life with Late-Onset Tay-Sachs (LOTS) Pt. 2
Stewart and Lorrie Altman

Interview: Living a Full and Filling Life with Late-Onset Tay-Sachs (LOTS) Pt. 2

In Part 1 of our interview with Lorrie and Stewart Altman, we discussed the journey to the Late-onset Tay-Sachs disease (LOTS) diagnosis, how Lorrie and Stewart's outlook shaped their lives,…

Continue Reading Interview: Living a Full and Filling Life with Late-Onset Tay-Sachs (LOTS) Pt. 2
Gene Therapy Receives Rare Pediatric Disease Designation for Sandhoff Disease and Tay-Sachs Disease
source: pixabay.com

Gene Therapy Receives Rare Pediatric Disease Designation for Sandhoff Disease and Tay-Sachs Disease

According to a story from GlobeNewswire, the gene therapy company Axovant Gene Therapies Ltd. recently announced that its gene therapy AXO-AAV-GM2 has been given Rare Pediatric Disease designation by the…

Continue Reading Gene Therapy Receives Rare Pediatric Disease Designation for Sandhoff Disease and Tay-Sachs Disease

In Honor of Tay-Sachs Disease Awareness Month Organizations are Teaming Together to Spread Awareness of Genetic Testing

Tay-Sachs Disease September is Tay-Sachs Disease Awareness Month. Voted on by the Senate unanimously in 2008, this month aims to spread awareness about this disease and the importance of carrier…

Continue Reading In Honor of Tay-Sachs Disease Awareness Month Organizations are Teaming Together to Spread Awareness of Genetic Testing

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…

Continue Reading First Potential Gene Therapy for Tay-Sachs Disease Produces Positive Results at Three Month Mark
Potential Gene Therapies for Tay-Sachs, Sandhoff, and GM1 Gangliosidosis Now Have Worldwide Licenses
Source: Pixabay.com

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…

Continue Reading Potential Gene Therapies for Tay-Sachs, Sandhoff, and GM1 Gangliosidosis Now Have Worldwide Licenses
$1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial
felixioncool / 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…

Continue Reading $1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial
New Expanded Access Trials For FENIB and LOTS Patients Set to Begin
DarkoStojanovic / 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…

Continue Reading New Expanded Access Trials For FENIB and LOTS Patients Set to Begin