Rare Diseases Research News - The Li Weibo (李伟波) Institute for Rare Diseases Research

Boston toddler Noa Greenwood, who was one of the first to receive an investigational gene therapy for Canavan disease developed at UMass Chan Medical School, delivered a very special “thank you” to the research team in a visit with her parents earlier this year.

PhD candidate Suk Namkung has lived on three continents. He aims to investigate and advance a new generation of gene therapy viral vectors.

Jun Xie, PhD, and Guangping Gao, PhD, received funding from End AxD, a nonprofit organization dedicated to the research and treatment for Alexander disease, to investigate an RNA silencing gene therapy for the rare genetic central nervous system disorder.

In a piece written for The Conversation, Fen-Biao Gao, PhD, talks about how frontotemporal dementia changes the brain and the research that is untangling its genetic causes.

The 2023 Gruber Genetics Prize is being awarded to molecular biologists Allan Jacobson, PhD, of UMass Chan Medical School, and Lynne Maquat, PhD, of the University of Rochester School of Medicine and Dentistry.

UMass Chan Medical School has signed a three-year sponsored research agreement with NeuShen Therapeutics Inc. to investigate a gene therapy treatment for amyotrophic lateral sclerosis. Jun Xie, PhD, and Guangping Gao, PhD, are leading the project for UMass Chan.

Researchers working with UMass Chan Medical School’s Translational Institute for Molecular Therapeutics announced progress in developing a vector to deliver gene replacement therapy in mice models with Cockayne syndrome, a rare and fatal neurodegenerative disease that largely affects children and young adults.

UMass Chan Medical School has licensed the rights to develop and commercialize a novel second-generation gene therapy to treat spinal muscular atrophy developed by Jun Xie, PhD, Guangping Gao, PhD, and colleagues to global biopharmaceutical company CANbridge Pharmaceuticals Inc.

Top story: The Translational Institute for Molecular Therapeutics leverages UMass Chan Medical School’s extensive experience in researching and developing gene therapies for early-stage clinical trials. Miguel Sena-Esteves, PhD, is director of the new institute.

Guangping Gao, PhD, will be honored by the National Tay-Sachs & Allied Diseases Association for his work in identifying the Canavan gene, revitalizing gene therapy, and his many accomplishments leading to potential treatments for Canavan disease.

Progress in UMass Chan Medical School research in developing a gene therapy for a rare bone disease characterized by abnormal bone formation in the skeletal muscle and in connective tissues has reached an important milestone.

Researchers at the University of Massachusetts Amherst and UMass Chan Medical School mapped the expression and maturation of the protein alpha-1 antitrypsin (AAT) with unprecedented clarity. UMass Chan gene therapy pioneer Terence R. Flotte, MD, is a co-author on the paper.

Chancellor Michael F. Collins announced that the University’s Board of Trustees has approved the appointment of three of faculty members to endowed chairs. They join more than 60 named chairs at UMass Chan.

Guangping Gao, PhD, and Dan Wang, PhD, show the first evidence that a suppressor transfer RNA therapy, delivered by a recombinant adeno-associated virus, can restore protein production up to six months after treatment in a mouse model of the rare genetic disease mucopolysaccharidosis type I.

Charles P Emerson Jr., PhD, and colleagues at UMass Chan Medical School have developed a technology to isolate human skeletal muscle stem cells, or progenitor cells, from induced pluripotent stem cells.

In a piece written for The Conversation, Miguel Sena-Esteves, PhD, talks about research leading to the first ever gene therapy for Tay-Sachs disease and the launch of the Translational Institute for Molecular Therapeutics at UMass Chan.

An Oregon couple whose baby was diagnosed with an ultra-rare genetic disorder has launched a foundation to raise money to accelerate development of therapies for the condition and recently signed a gift agreement with UMass Chan Medical School to jump start the research.

The Translational Institute for Molecular Therapeutics leverages UMass Chan Medical School’s extensive experience in researching and developing gene therapies for early-stage clinical trials. Miguel Sena-Esteves, PhD, is director of the new institute.

Robert H. Brown Jr., DPhil, MD, Jonathan Watts, PhD, and colleagues have shown the ability to suppress mutant forms of an ALS gene in a single-patient pilot study.

Researchers from UMass Chan Medical School have received a five-year $13.6 million program project grant from the National Heart, Lung and Blood Institute to develop new gene therapy models for alpha-1 antitrypsin deficiency, a chronic, debilitating genetic lung disease that shortens the lifespan.

Rare disease research news from UMass Chan Medical School

Family connects with researchers behind Canavan gene therapy

PhD candidate aims to make gene therapy techniques safer

End AxD funds gene therapy research for Alexander disease

How frontotemporal dementia changes the brain

Molecular biologists Allan Jacobson and Lynne Maquat receive 2023 Gruber Genetics Prize

NeuShen Therapeutics funds ALS research at UMass Chan Medical School

UMass Chan researchers achieve gene therapy milestone for potential Cockayne syndrome treatment

UMass Chan licenses rights to spinal muscular atrophy gene therapy program to CANbridge Pharmaceuticals

Top story: UMass Chan launches Translational Institute for Molecular Therapeutics

NTSAD to honor Guangping Gao for lifetime work on Canavan disease, as gene therapy trial shows promise

Study of rare bone disease led by UMass Chan researcher Jae-Hyuck Shim reaches important milestone

Turning muscle into a protein factory for gene therapy treatments

Eric Baehrecke, Jeanne Lawrence and Alan Mullen appointed to endowed chairs

UMass Chan research supports development of new suppressor-tRNA-based gene therapies

Muscle stem cell technology developed at UMass Chan prelude to new muscular dystrophy therapeutics

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

Raiden Science Foundation makes gift to UMass Chan for UBA5 gene therapy research

UMass Chan launches Translational Institute for Molecular Therapeutics

UMass Chan clinical trial shows antisense oligonucleotide safely suppresses mutant ALS gene in pilot human study

Flotte lab to develop gene therapy models for genetic lung disease