Nobel Prize in Chemistry 2020: Genetic scissors: a tool for rewriting the code of life

Emmanuelle Charpentier and Jennifer Doudna are awarded the Nobel Prize in Chemistry 2020 for discovering one of gene technology’s sharpest tools: the CRISPR/Cas9 genetic scissors. Researchers can use these to......

Axovant and Viralgen Sign Strategic Gene Therapy Development and Manufacturing Partnership

Partnership secures access to cGMP capacity and resources at Viralgen to support the development and commercialization of Axovant’s AAV gene therapy programs for GM1 and GM2 gangliosidosis Partnership bolsters the......

A six-month feasibility study evaluated patients’ ongoing compliance in wearing digital health technology in order to capture continuous data remotely as well as changes often missed in between hospital visits.

Abstract Background As part of a late onset GM2 gangliosidosis natural history study, digital health technology was utilized to monitor a group of patients remotely between hospital visits. This approach......

Medical mystery: A teenager’s apparent clumsiness foreshadowed a shocking diagnosis

Judy Kalnas remembers thinking that Jessica, the youngest of her six children, resembled the elastic-limbed cartoon character Gumby. The summer that Jessica was 14, her large extended family rented a......

GM2 Gangliosidosis Research (Sandhoff and Tay-Sachs)

GM2 Gangliosidosis (Sandhoff and Tay-Sachs) Research Overview Sandhoff is a lysosomal storage disorder. It is caused by a mutation in the gene responsible for the vital enzymes called beta hexaminidase......

Tay Sachs: Victorian mum with two terminally ill children tells her story

Kelly McElligott and her family. Credit: Supplied Kelly McElligott, from Victoria, is living every mother’s worst nightmare. Here she shares her story in her own words: It’s easy to recall......

UMass Med School gene therapy shows promising early results in tackling Tay-Sachs

UMass Medical School Dean Dr. Terence R. Flotte is interviewed in his office about a UMass study on investigational genet therapy in two patients with infantile Tay-Sachs disease. [Photo/Sam Fuller]......

Promising Results Reported in Tay-Sachs Gene Therapy Trial

BARCELONA – Researchers have obtained the first signs of clinical benefit in an early-stage gene therapy trial for Tay-Sachs disease, according to a presentation at the European Society of Gene......

Axovant Presents First Evidence of Clinical Stabilization in Tay-Sachs Disease at the European Society of Gene and Cell Therapy 27th Annual Congress

Initial data with AXO-AAV-GM2 suggests stabilization of disease course, attainment of normal developmental milestones, and improvement in myelination on brain MRI AXO-AAV-GM2 generally safe and well-tolerated to date Additional data......

Genome editing with precision

Prime editing system offers wide range of versatility in human cells, correcting disease-causing genetic variations Ateam from the Broad Institute of MIT and Harvard has developed a new CRISPR genome-editing......

$28 million grant supports Cincinnati Children’s role as coordinating center for Rare Diseases Clinical Research Network

The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children’s as its new data......

New hope for Tay-Sachs disease at UMass Medical School

LISTEN Produced by UMass Medical School · New hope for Tay-Sachs disease A new Voices of UMassMed podcast highlights the progress being made at UMass Medical School in developing gene......

AXOVANT announces clinical update from first Tay-Sachs disease patient dosed with AXO-AAV-GM2 gene therapy

Generally well-tolerated with no serious adverse events in a 30-month-old patient with advanced infantile Tay-Sachs disease Stable clinical condition from baseline to month 3 without deterioration on neurological exam Increase......

New blood test detects genetic disorders in fetuses

Tel Aviv University researchers have developed a new blood test for genetic disorders that may allow parents to learn about the health of their baby as early as 11 weeks......

UMMS licenses clinical-stage gene therapies for Tay-Sachs, similar diseases to Axovant

Axovant Sciences, a Swiss company developing innovative gene therapies for serious neurological diseases, has licensed exclusive worldwide rights for the development and commercialization of two novel gene therapy programs for......

New Approaches to Tay-Sachs Disease Therapy

Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of......

Tay Sachs Sees Hope in First Gene Therapy Clinical Trial

Blu Genes Foundation Gives UMMS $1.4M(USD) to Bring Tay-Sachs Gene Therapy Approach to Clinical Trial The Blu Genes Foundation, a Toronto-based foundation dedicated to the development of gene therapy treatments......

Twin Sisters Share a Diagnosis -Tay-Sachs Disease – and a Desire to Make a Difference

Katie and Allie Buryk lived with strange symptoms for years before learning they had Tay-Sachs disease. Now, the young women are devoted to raising awareness of the disease, and finding......

How Jewish activism has virtually wiped out Tay-Sachs

Thanks to technology and an aggressive screening campaign, the genetic disease is all but gone today — and carrier couples can have healthy children Widespread testing is credited with helping......

Tay-Sachs Children Respond to Ground-Breaking Stem Cell Gene Therapy

SARASOTA, FL–(Marketwire – 04/26/11) – StemCellRegenMed today announces, as a result of its continued ground-breaking efforts to treat Tay-Sachs disease through stem cell gene therapy, the treatment of three children......

BC Researchers Aid Effort To End Tay-Sachs Disease

Researchers from Boston College, Massachusetts General Hospital, Cambridge University (UK) and Auburn University have formed the Tay-Sachs Gene Therapy Consortium, with a goal of advancing to human clinical trials a......