A recent Phase I/II clinical study led by UMass Chan Medical School has shown encouraging results for a gene therapy targeting GM2 gangliosidosis, a group of rare and fatal neurodegenerative…
Early clinical data from a Phase I/II study at UMass Chan Medical School point to meaningful, measurable benefits from a central nervous system gene therapy for GM2 gangliosidosis, which encompasses…
Acknowledgement: This article was shared with Patient Worthy by our friends at Stork Genetics. To see the original article, please click here. For more information about women affected by X-linked…
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…
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…
Together, Sarah Hutchesson-Webb and her fiancé Jake Powell have built a beautiful life together. They welcomed sons Hunter (5) and Aston (2) into the world—and wanted to round out their…
Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…
Tay-Sachs disease has escaped effective treatment since 1883 when an ophthalmologist names Warren Tay found small red spots in the back of the eyes of some infants. According to an…
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,…
48 years of marriage, 2 children, 2 nephews, 7 grandchildren, and 3 great-nieces. It is clear that Lorrie and Stewart Altman, over their time together, have created a beautiful life.…
Within the United States, Orphan Drug designation is granted by the FDA to facilitate the development and review of drugs or biologics intended to treat rare conditions. In this…
Treatment for patients with GM2 Gangliosidosis - which consists of Tay-Sachs disease and Sandhoff disease - has often been symptomatic and supportive. However, a new therapy shows promise in benefiting…
According to a recent article in USA Today, the decades-old vision of gene therapy has become a reality for a Danish couple. Thomas Felborg, his wife Daria Rokina brought…
Rare Disease Day each year on February 28th provides a time for the rare disease community to reflect on the progress of the year, the continued gaps in rare 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…
When Jessica Kalnas was growing up, her mother Judy thought her daughter was just clumsy. The youngest of six kids, Jessica was always falling over: off of her bike,…
Kelly and Rory McElligott, of Highton, Victoria, Australia, have 3 beautiful children: Maggie, Billy, and Alice. But the family was shocked when two of their children, Maggie and Billy,…
Two patients at UMass Memorial Medical Center with Tay-Sachs disease received gene therapy to attempt to correct the mutation in the HEXA gene that causes the disease. The patients that…
The University of Massachusetts Medical School has recently announced preliminary results from their trial for Tay-Sachs disease. This trial is investigating a gene therapy and researchers are excited about it's…
Gina, a 14-year-old Jewish girl, had familial dysautonomia when she passed away. She was described as a having a 'positive and upbeat attitude' and enjoyed spending time with her older…
According to a story from WBUR, a preliminary evaluation of a young patients diagnosed with Tay-Sachs disease appears to show some encouraging signs. Two patients were treated with an experimental…
According to a story from the Times of Israel, a team of researchers associated with the University of Massachusetts appear to have discovered a potential breakthrough in regards to the…
We've been hearing A LOT about so-called 'gene editing' and 'CRISPR' lately -- and now there's new developments on that front. Scientists have developed a new gene-editing technology called 'prime…
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…
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…
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