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
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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
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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
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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
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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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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
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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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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
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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
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…
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When Research is Personal: A GM1 Gangliosidosis Story
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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First Potential Gene Therapy for Tay-Sachs Disease Produces Positive Results at Three Month Mark
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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…
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Potential Gene Therapies for Tay-Sachs, Sandhoff, and GM1 Gangliosidosis Now Have Worldwide Licenses
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$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…
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$1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial
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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.…
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Take Me To Church: George Church sees the future in your genes
