Suffering and Faith
Editor's Note: Patient Worthy is honored to present this story, originally written by Blyth Lord, founder of Courageous Parents Network. I was asked earlier this week by a high school…
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Suffering and Faith
Early Gene Therapy Trial Brings New Hope for Tay-Sachs and Sandhoff Diseases
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…
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Early Gene Therapy Trial Brings New Hope for Tay-Sachs and Sandhoff Diseases
Two-Vector CNS Gene Transfer Delivers Early Gains in Tay-Sachs and Sandhoff
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…
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Two-Vector CNS Gene Transfer Delivers Early Gains in Tay-Sachs and Sandhoff
Not Just a Carrier
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…
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Not Just a Carrier
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…
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Azafaros Highlights New Hope for Rare Lysosomal Diseases
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…
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Friends in the Fight: Athlete’s Loss Inspires Support for Tay-Sachs Research via Uplifting Athletes’ Young Investigator Draft
Found on: Unsplash
Daughter with Tay-Sachs Disease Won’t Live to See Six, Family Shares
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…
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Daughter with Tay-Sachs Disease Won’t Live to See Six, Family Shares
source: shutterstock
Rare Classroom: Tay-Sachs Disease
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…
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Rare Classroom: Tay-Sachs Disease
Results From the First Clinical Trial for Tay-Sachs Disease Look Promising
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…
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Results From the First Clinical Trial for Tay-Sachs Disease Look Promising
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,…
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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. 1
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.…
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Interview: Living a Full and Filling Life with Late-Onset Tay-Sachs (LOTS) Pt. 1
mcmurryjulie / Pixabay
PLX-200 Earns Orphan Drug Designation for GM2 Gangliosidoses
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…
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PLX-200 Earns Orphan Drug Designation for GM2 Gangliosidoses
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IB1001 Shows Promise for Tay-Sachs and Sandhoff Disease
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…
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IB1001 Shows Promise for Tay-Sachs and Sandhoff Disease
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Alissa is the First Child to Receive Gene Therapy in Her Brain and Spinal Cord
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…
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Alissa is the First Child to Receive Gene Therapy in Her Brain and Spinal Cord
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Rare Disease Clinical Trials Have Adapted and Progressed During 2020
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…
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Rare Disease Clinical Trials Have Adapted and Progressed During 2020
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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…
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Gene Therapy Receives Rare Pediatric Disease Designation for Sandhoff Disease and Tay-Sachs Disease
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She Thought She Was Just Clumsy. But She Had Late-Onset Tay-Sachs.
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,…
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She Thought She Was Just Clumsy. But She Had Late-Onset Tay-Sachs.
Photo by Jude Beck on Unsplash
Raising Money to Benefit Siblings with Tay-Sachs Disease
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,…
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Raising Money to Benefit Siblings with Tay-Sachs Disease
PublicDomainPictures / Pixabay
Gene Therapy Stabilizes Tay-Sachs Disease Babies
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…
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Gene Therapy Stabilizes Tay-Sachs Disease Babies
Phase 2 Trial for Tay-Sachs Disease Gene Therapy Starting Soon
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…
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Phase 2 Trial for Tay-Sachs Disease Gene Therapy Starting Soon
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The Impact of Jewish Diseases
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…
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The Impact of Jewish Diseases
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Gene Therapy Appears to Stabilize Symptoms in Infant Tay-Sachs Disease Patient
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…
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Gene Therapy Appears to Stabilize Symptoms in Infant Tay-Sachs Disease Patient
PublicDomainPictures / Pixabay
Could This Gene Therapy be a Breakthrough Treatment for Tay-Sachs Disease?
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…
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Could This Gene Therapy be a Breakthrough Treatment for Tay-Sachs Disease?
ICYMI: New Form of Gene Editing Could Correct 89% of Genetic Defects
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…
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ICYMI: New Form of Gene Editing Could Correct 89% of Genetic Defects
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…
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In Honor of Tay-Sachs Disease Awareness Month Organizations are Teaming Together to Spread Awareness of Genetic Testing
