SickKids researchers ‘model’ future of precision medicine for rare inherited disorders
March 19, 2021

A team of researchers at The Hospital for Sick Children (SickKids) has successfully implemented a genome-editing technique in mice that could eventually be used in humans to treat almost 10......

Coronavirus: Young Canadians with rare diseases feeling impact of pandemic
March 16, 2021

“It’s bittersweet because he’s taking a big brother role, even though he’s the little brother,” said Terri Gortnar, the children’s mother. Claire Gortnar, who is about to turn six, does......

Sio Gene Therapies Announces First Patient Dosed in Clinical Trial of AXO-AAV-GM2 in Patients with Tay-Sachs and Sandhoff Disease (GM2 Gangliosidosis)
February 3, 2021

NEW YORK and RESEARCH TRIANGLE PARK, N.C., Feb. 03, 2021 (GLOBE NEWSWIRE) — Sio Gene Therapies Inc. (NASDAQ: SIOX), a clinical-stage company focused on developing gene therapies to radically transform......

Taysha Gene Therapies Announces Queen’s University’s Receipt of Clinical Trial Application Approval from Health Canada for Phase 1/2 Clinical Trial of TSHA-101 for the Treatment of Infantile GM2 Gangliosidosis
December 23, 2020

DALLAS–(BUSINESS WIRE)–Dec. 21, 2020– Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of......

Health Canada approves $2.8M treatment for spinal muscular atrophy
December 17, 2020

Health Canada has approved Zolgensma, which is bringing renewed hope to Alberta families that have been tirelessly fundraising to afford its staggering cost of $2.8 million. At least four children......

Sio Gene Therapies Announces Positive Six-Month Follow-Up Data from Low-Dose Cohort of Phase 1/2 Trial of AXO-AAV-GM1 for GM1 Gangliosidosis
December 16, 2020

NEW YORK and RESEARCH TRIANGLE PARK, N.C., Dec. 15, 2020 (GLOBE NEWSWIRE) — Sio Gene Therapies Inc. (NASDAQ: SIOX), a clinical-stage company focused on developing gene therapies to radically improve......

Ottawa baby a pioneer of gene therapy for rare disease
December 4, 2020

“We are just so blessed that we live in the right place and that Aidan was born when he was. We’re still shocked to this day that we were that......

Sio Gene Therapies Announces First Patient Dosed in High-Dose Cohort of AXO-AAV-GM1 Clinical Trial in Patients with GM1 Gangliosidosis
December 2, 2020

NEW YORK and RESEARCH TRIANGLE PARK, N.C., Dec. 02, 2020 (GLOBE NEWSWIRE) — Sio Gene Therapies Inc. (NASDAQ: SIOX), a clinical-stage company focused on developing gene therapies to radically transform......

Axovant Gene Therapies Announces FDA Clearance of IND for AXO-AAV-GM2 Gene Therapy in Tay-Sachs and Sandhoff Diseases
November 9, 2020

AXO-AAV-GM2 is the first investigational gene therapy to receive IND clearance in Tay-Sachs and Sandhoff diseases Represents Axovant’s second IND clearance for a gene therapy program in the last 12......

Nobel Prize in Chemistry 2020: Genetic scissors: a tool for rewriting the code of life
October 13, 2020

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
September 15, 2020

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.
September 3, 2020

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
July 24, 2020

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)
July 21, 2020

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
June 12, 2020

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
November 27, 2019

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
October 29, 2019

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
October 23, 2019

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
October 21, 2019

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
October 4, 2019

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
September 23, 2019

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
March 11, 2019

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
February 21, 2019

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
December 13, 2018

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
November 20, 2018

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
November 6, 2018

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
January 30, 2018

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
August 23, 2017

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
April 26, 2011

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
February 25, 2008

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......