The science behind screening for Tay-Sachs disease

Shari Ungerleider lost her son to Tay-Sachs disease and spent the last 27 years working to educate people about the importance of genetic screening. Originally aired on CBS New York, on September 19, 2022,...

Lysosomes and their role in Alzheimer’s disease, Duchenne Muscular Dystrophy, Tay-Sachs Disease

U–M researchers reveal how a mutated protein acts as risk factor in Parkinson’s disease Reviewed by Emily Henderson, B.Sc.  Jun 23 2022 In about a fifth of the cases of Parkinson’s disease, look to a small, malfunctioning protein in the lysosome as a risk factor, say University of Michigan researchers....

Parents spark breakthrough gene therapy for devastating child disease ignored by big pharma

Exclusive: For more than a century there has been no cure, no treatment and no hope for children diagnosed with Tay-Sachs disease. Now grassroots campaigns to fund research are on the brink of delivering a breakthrough, Io Dodds reports...

First gene therapy for Tay-Sachs disease successfully given to two children

Two babies have received the first-ever gene therapy for Tay-Sachs disease after over 14 years of development. Tay-Sachs is a severe neurological disease caused by a deficiency in an enzyme called HexA. This enzyme breaks down a fatlike substance that normally exists in very small, harmless amounts in the brain....

Medical Journal Publication – AAV gene therapy for Tay-Sachs Disease.

Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety as the primary endpoint and no secondary endpoints. Patient TSD-001 was treated at 30...

UMass Chan launches Translational Institute for Molecular Therapeutics

Study supported by Blu Genes Published in Nature Medicine Blu Genes Foundation made a commitment of $1.4million (USD) to the University of Massachusetts Chan Medical School to advance the Phase I/II clinical trial for the rare genetic disorder, Tay Sachs. Blu Genes gift was the catalyst in moving research from...

A family from Marquette is bringing awareness to Tay-Sachs disease

MARQUETTE, Mich. (WLUC) – A rare disease for a one of a kind little boy. For one family from Marquette, It’s been just over a year since they received a diagnosis that would change their son’s life forever. Now, the Rudness family is working to spread awareness about Tay-Sachs disease....

Girl with genetic condition in race against time | CTV News

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An experimental gene therapy was little Alissa’s only hope. Now, instead of certain death, she faces an uncertain future.

BOSTON — Thomas Feldborg and Daria Rokina set off nearly every afternoon to explore this city. They leave from their hotel in the Charlestown neighborhood, pushing their baby carriage, some days heading deep into downtown, others choosing a path along the Charles River. Every few minutes, Rokina stops to peek...

SickKids researchers ‘model’ future of precision medicine for rare inherited disorders

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 per cent of all rare inherited disorders. The team created a mouse model emulating the exact genetic mutation of a...

Coronavirus: Young Canadians with rare diseases feeling impact of pandemic

“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 not respond to Josef as he pushes her on the swings, but she is smiling and appears to be enjoying...

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

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 the lives of patients with neurodegenerative diseases, today announced that the first patient with infantile Tay-Sachs disease has been dosed...

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

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 the central nervous system in both rare and large patient populations, today announced that Queen’s University in Ontario, Canada, received...

Health Canada approves $2.8M treatment for spinal muscular atrophy

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 in Alberta have been diagnosed with the rare and debilitating disease spinal muscular atrophy (SMA)....

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

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 the lives of patients with neurodegenerative diseases, today reported positive six-month follow-up data from the low-dose cohort (1.5×1013 vg/kg) of...

Ottawa baby a pioneer of gene therapy for rare disease

“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 lucky.”...

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

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 the lives of patients with neurodegenerative diseases, today announced that the first patient has been dosed in the high-dose cohort...

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

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 months NEW YORK, Nov. 09, 2020 (GLOBE NEWSWIRE) — Axovant Gene Therapies Ltd. (NASDAQ: AXGT), a clinical-stage company developing innovative...

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 change the DNA of animals, plants and microorganisms with extremely high precision. This technology has revolutionised the molecular life sciences,...

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 Company’s clinical and commercial capacity and expands access to process development, analytical development, and manufacturing expertise NEW YORK and BASEL,...

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 was explored as a means of capturing continuous data and moving away from focusing only on episodic data captured in...

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 house on North Carolina’s Outer Banks. One afternoon Judy spotted Jessica crawling up the steep steps from the beach on...

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 A and B). The role of these enzymes is to degrade a fatty substance or lipid called GM-2 ganglioside. In...

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 a particularly harrowing car journey with your kids. A hungry newborn screaming, a tired toddler tantruming or siblings fighting. As...

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] WORCESTER — The fight against Tay-Sachs disease, a rare, progressive and fatal neurodegenerative disorder, showed progress based on preliminary results...

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 & Cell Therapy (ESGCT) annual conference last week. Terence R. Flotte, MD, executive deputy chancellor, provost, and dean of the...

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 to be presented by Dr. Terence Flotte at 5:30 PM CET today during ESGCT NEW YORK and BASEL, Switzerland, Oct....

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 approach that has the potential to correct up to 89 percent of known disease-causing genetic variations. Researchers have combined two...

$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 management and coordinating center. The five-year, $28 million grant from the National Center for Advancing Translational Sciences (NCATS), one of...

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 therapy for Tay-Sachs disease. Tay-Sachs is a rare, genetic degenerative disease that destroys nerve cells in the brain and spinal...

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 in CSF β-Hexosaminidase A enzyme activity from baseline to month 3, surpassing the 0.5% threshold expected for a clinically important...

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 into pregnancy. The simple blood test lets doctors diagnose genetic disorders in fetuses early in pregnancy by sequencing small amounts...

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 Tay-Sachs and Sandhoff diseases from the University of Massachusetts Medical School. Tay-Sachs and Sandhoff diseases are rapidly progressive and fatal...

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 this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes of nerve cells. Tay-Sachs disease is characterized by acute neurodegeneration...

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 for rare diseases, has donated $1.4 million to University of Massachusetts Medical School for the advancement of a Phase I/II...

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 a cure. Katie and Allie Buryk were visiting their parents when the twins noticed they both needed to use their...

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 reduce the incidence of Tay-Sachs among Jews by more than 90 percent since screenings began in the early 1970s. (Courtesy...

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 suffering from this devastating genetic disorder.Children with Tay-Sachs appear to develop normally after birth, but symptoms begin to affect them...

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 unique gene therapy with the potential to halt the fatal genetic disorder. Commonly found in children of Eastern European Jewish...