Tay-Sachs Disease Archives

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

Post author:Jessica Lynn
Post published:January 24, 2024
Post category:Tay-Sachs Disease

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…

Found on: Unsplash

Daughter with Tay-Sachs Disease Won’t Live to See Six, Family Shares

Post author:Jessica Lynn
Post published:March 15, 2023
Post category:Tay-Sachs Disease

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…

source: shutterstock

Rare Classroom: Tay-Sachs Disease

Post author:James Moore
Post published:October 21, 2022
Post category: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…

Results From the First Clinical Trial for Tay-Sachs Disease Look Promising

Post author:Rose Duesterwald
Post published:February 24, 2022
Post category:Tay-Sachs Disease

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…

Stewart and Lorrie Altman

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

Post author:Jessica Lynn
Post published:February 22, 2022
Post category:Multiple Myeloma Tay-Sachs Disease

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,…

Stewart and Lorrie Altman

Interview: Living a Full and Filling Life with Late-Onset Tay-Sachs (LOTS) Pt. 1

Post author:Jessica Lynn
Post published:February 21, 2022
Post category:Tay-Sachs Disease

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.…

mcmurryjulie / Pixabay

PLX-200 Earns Orphan Drug Designation for GM2 Gangliosidoses

Post author:Jessica Lynn
Post published:September 24, 2021
Post category:Sandhoff disease Tay-Sachs Disease

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…

source: pixabay.com

IB1001 Shows Promise for Tay-Sachs and Sandhoff Disease

Post author:Jessica Lynn
Post published:September 23, 2021
Post category:Sandhoff disease Tay-Sachs 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…

source: pixabay.com

Alissa is the First Child to Receive Gene Therapy in Her Brain and Spinal Cord

Post author:Rose Duesterwald
Post published:May 18, 2021
Post category:Sandhoff disease Tay-Sachs Disease

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…

source: pixabay.com

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

Post author:James Moore
Post published:October 16, 2020
Post category:Sandhoff disease 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…

PublicDomainPictures / Pixabay

She Thought She Was Just Clumsy. But She Had Late-Onset Tay-Sachs.

Post author:Jessica Lynn
Post published:August 11, 2020
Post category:Tay-Sachs Disease

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,…

Photo by Jude Beck on Unsplash

Raising Money to Benefit Siblings with Tay-Sachs Disease

Post author:Jessica Lynn
Post published:June 1, 2020
Post category: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,…

PublicDomainPictures / Pixabay

Gene Therapy Stabilizes Tay-Sachs Disease Babies

Post author:Ellen Johnson
Post published:December 19, 2019
Post category:Tay-Sachs Disease

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…

Phase 2 Trial for Tay-Sachs Disease Gene Therapy Starting Soon

Post author:Trudy Horsting
Post published:December 9, 2019
Post category:Tay-Sachs Disease

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…

source: pixabay.com

Gene Therapy Appears to Stabilize Symptoms in Infant Tay-Sachs Disease Patient

Post author:James Moore
Post published:November 8, 2019
Post category:Tay-Sachs Disease

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…

PublicDomainPictures / Pixabay

Could This Gene Therapy be a Breakthrough Treatment for Tay-Sachs Disease?

Post author:James Moore
Post published:October 31, 2019
Post category: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…

ICYMI: New Form of Gene Editing Could Correct 89% of Genetic Defects

Post author:Jean Martell
Post published:October 30, 2019
Post category:Sickle cell anemia Tay-Sachs Disease

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…

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

Post author:Trudy Horsting
Post published:September 24, 2019
Post category:Rare Disease Tay-Sachs Disease Timely

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…

When Research is Personal: A GM1 Gangliosidosis Story

Post author:Trudy Horsting
Post published:March 21, 2019
Post category:GM2-gangliosidosis- B- B1- AB variant Sandhoff disease Tay-Sachs Disease

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…

First Potential Gene Therapy for Tay-Sachs Disease Produces Positive Results at Three Month Mark

Post author:Trudy Horsting
Post published:March 13, 2019
Post category:Muscular Dystrophy Tay-Sachs Disease

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…

Source: Pixabay.com

Potential Gene Therapies for Tay-Sachs, Sandhoff, and GM1 Gangliosidosis Now Have Worldwide Licenses

Post author:Trudy Horsting
Post published:December 21, 2018
Post category:GM2-gangliosidosis- B- B1- AB variant Sandhoff disease Tay-Sachs Disease

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…

felixioncool / Pixabay

$1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial

Post author:Anna Hewitt
Post published:November 14, 2018
Post category:Sandhoff disease Tay-Sachs Disease

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…

Source: Pixabay.com

Take Me To Church: George Church sees the future in your genes

Post author:Dawn Scott
Post published:July 17, 2018
Post category:Tay-Sachs Disease

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.…

DarkoStojanovic / Pixabay

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

Post author:James Moore
Post published:June 22, 2018
Post category:Familial encephalopathy with neuroserpin inclusion bodies Friedreich's Ataxia Tay-Sachs Disease

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…

Free-Photos / Pixabay

What To Do With The Results Of Genetic Testing

Post author:Al Pendleton
Post published:January 2, 2018
Post category:Gaucher Disease Rare Disease Tay-Sachs Disease

Despite the obvious cliché nature of the old adage, knowledge really is power. Technology and medical advancements give doctors and researchers more information than anyone could have fathomed even a…

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

Daughter with Tay-Sachs Disease Won’t Live to See Six, Family Shares

Rare Classroom: Tay-Sachs Disease

Results From the First Clinical Trial for Tay-Sachs Disease Look Promising

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

Interview: Living a Full and Filling Life with Late-Onset Tay-Sachs (LOTS) Pt. 1

PLX-200 Earns Orphan Drug Designation for GM2 Gangliosidoses

IB1001 Shows Promise for Tay-Sachs and Sandhoff Disease

Alissa is the First Child to Receive Gene Therapy in Her Brain and Spinal Cord

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

She Thought She Was Just Clumsy. But She Had Late-Onset Tay-Sachs.

Raising Money to Benefit Siblings with Tay-Sachs Disease

Gene Therapy Stabilizes Tay-Sachs Disease Babies

Phase 2 Trial for Tay-Sachs Disease Gene Therapy Starting Soon

Gene Therapy Appears to Stabilize Symptoms in Infant Tay-Sachs Disease Patient

Could This Gene Therapy be a Breakthrough Treatment for Tay-Sachs Disease?

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

When Research is Personal: A GM1 Gangliosidosis Story

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

$1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial

Take Me To Church: George Church sees the future in your genes

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

What To Do With The Results Of Genetic Testing

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

“Shades of Psoriasis”: Plaque Psoriasis and Sharing Your Story

Understanding RSV: Why Combatting Ethnic and Age-Related Health Disparities Could Improve Outcomes

We Need Equity and Diversity Within Rare Disease Research

DNA in Color: How Ronya Nelson is Working to Close the Diversity Gap in Genetics - Part 1

Bridging the Diversity Gap in Healthcare

Congratulations to the 2023 Recipients of the Diversity in Lupus Research Awards!

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