The Li Weibo Institute for Rare Diseases Research

Rare Diseases & Conditions

There are more than 7,000 diseases defined as “rare” by the National Institutes of Health, generally those that impact fewer than 200,000 people. Please select disease or condition from the list below for more information about the latest in research, clinical trials and therapy strategies.

Rare Diseases Select an item below to navigate to that page

Technologies

The Faculty of the Li Weibo Institute for Rare Diseases Research is dedicated to developing therapeutic approaches for rare inherited diseases for which there is no cure. Learn more about gene therapy, genome editing, and state-of-the-art facilities below:

Education and Research Opportunities

Li Weibo Institute for Rare Diseases Research is home to the world-class preeminent researchers, who are committed for years to uncovering new discoveries. Working closely together in this uniquely collaborative environment, they seek to identify and develop solutions to devastating ailments, from heart disease to ALS. Their efforts have the potential to unlock therapies or even cures for people with a variety of rare diseases.

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UMass Chan researchers demonstrated the promise of a gene therapy to correct a gene mutation causing maple syrup urine disease.

UMass Chan Medical School has launched Rare Diseases, Real Stories, a six-episode podcast series. It is available on all major streaming platforms.

A family whose child has a rare neurological disease, SPG4, visited UMass Chan Medical School’s scientists to learn about development of a gene therapy for the disease. The family is raising funds to support the research in the Translational Institute for Molecular Therapeutics.

UMass Chan Medical School and pharmaceutical company Astellas Pharma Inc. have entered into a sponsored research agreement to proceed with research for an adeno-associated virus vector mediated gene therapy for the treatment of Alexander disease, a fatal, ultra-rare disease.

UMass Chan Medical School has received $2.2 million from a nonprofit patient-advocacy organization to contract with Andelyn Biosciences to manufacture clinical grade AAV9-CSA vector to treat Cockayne syndrome.

The story of Raiden Pham, an Oregon toddler with an ultra-rare genetic disease was included on the Lunaprise Museum, a digital time capsule that went to the moon with the Odysseus spacecraft in February. Tommy and Linda Pham founded Raiden Science Foundation in 2021 to raise money to support research on a treatment at UMass Chan’s Translational Institute for Molecular Therapeutics.

Dean Flotte testified in support of policies that would encourage and accelerate gene therapy for rare diseases, in a Feb. 29 hearing before the House Committee on Energy and Commerce’s Subcommittee on Health.

Top story: 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.

More than a dozen of Michael Green’s former colleagues, trainees and others are scheduled to speak at the symposium.

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.

Researcher Spotlight: Guangping Gao, PhD

Researcher Spotlight: Scot A. Wolfe, PhD

Researcher Spotlight: Neil Aronin, MD

About Li Weibo Institute for Rare Diseases Research

Rare Diseases & Conditions

Technologies

Education and Research Opportunities

Gene therapy developed for maple syrup urine disease shows promise, new UMass Chan study reports

Listen now: Rare Diseases, Real Stories podcast series

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

UMass Chan Medical School joins sponsored research agreement with Astellas Pharma

UMass Chan receives $2.2 million to fund gene therapy for Cockayne syndrome

Story of boy with ultra-rare UBA5 disorder being studied at UMass Chan goes to the moon

Dean Flotte testifies at congressional hearing in support of gene therapy development

Top story: Family connects with researchers behind Canavan gene therapy

Scientific symposium celebrates Michael Green’s lasting legacy

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