Baby Is Healed With World’s First Personalized Gene-Editing Treatment

Article: By Gina Kolata, The New York Times – May 15, 2025 The technique used on a 9½-month-old boy with a rare condition has the potential to help people with......

Study identifies a potential treatment for Sandhoff and Tay-Sachs diseases

In a groundbreaking study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause progressive damage to nerve......

Blu Genes supports gene therapy at University of Wisconsin-Madison. Gene therapy protects against motor neuron disease.

Anjon Audhya The mutation is in the Trk-fused gene, which typically facilitates the transportation of proteins within nerve cells called neurons. When that function is disrupted in people — and......

Taylor Swift tickets being auctioned off to help fund for Ottawa boy with rare disease

A pair of Taylor Swift tickets are being auctioned off in Ottawa to help fund a cure for a Stittsville boy with a rare disease. Last year, seven-year-old Jack was......

Saskatchewan artist fundraising to help family whose son has genetic disease

A Regina based artist is using his platform to fundraise in hope of helping a young boy with a genetic disease and his family. After being contacted by Anna Laidlaw,......

Family with child affected by SPG4 visits UMass Chan researchers developing gene therapy

A family from Ottawa, Canada, seeking a cure for spastic paraplegia type 4 (SPG4), a rare genetic neurological disorder that progressively weakens and causes spasticity in the legs, recently visited......

Ottawa community helping fundraise for boy with rare disease

Ottawa came together in Stittsville on Saturday, raising more than $15,000 to help fund a cure for a seven-year-old boy diagnosed with a rare disease. Just before Christmas last year,......

FDA Approves First Gene Therapy for Children with Metachromatic Leukodystrophy

Today, the U.S. Food and Drug Administration approved Lenmeldy (atidarsagene autotemcel), the first FDA-approved gene therapy indicated for the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or......

Gene Therapy Allows an 11-Year-Old Boy to Hear for the First Time

The genetic treatment targeted a particular kind of congenital deafness and will soon be tried in children who are younger. Special earphones being used for Aissam’s hearing test. His form......

Genetic test offers hope for undiagnosed kids, but few insurers offer to pay. Florida Medicaid will

Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction....

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,......

Canadian family raised $3.5M to develop individualized gene therapy for son’s rare condition

The family is cautiously optimistic about the improvements they are seeing in Michael, 4, since the gene therapy three months ago Dr. Manohar Shroff, neuroradiologist at SickKids, prepares Michael for......

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......

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......

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......

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......

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......

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......

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......

‘Her body was a prison’: How a new gene therapy changed the lives of two Canadian girls

TORONTO — A new gene therapy for an extremely rare disorder has offered two Canadian children a new chance at life, allowing them to move on their own after years......

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......

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......

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......

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......

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......

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......

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......

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......

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......

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......