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

Aug 1, 2022

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.

Jun 7, 2022

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.

Apr 21, 2022

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.

Mar 17, 2022

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.

Feb 14, 2022

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.

Feb 10, 2022

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.

Feb 10, 2022

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.

Dec 23, 2021

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.

Nov 18, 2021

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.

Nov 2, 2021

Sio Gene Therapies, a clinical-stage company focused on developing gene therapies for neurodegenerative diseases, presented positive interim data from its Phase I/II study of AXO-AAV-GM1, an adeno-associated viral vector-based gene therapy candidate for GM1 gangliosidosis that was licensed from UMass Chan.

Oct 4, 2021

Riaan Research Initiative, a non-profit organization, and UMass Chan Medical School are entering into an agreement to fund, research and develop a gene replacement therapy to combat Cockayne syndrome, a fatal autosomal recessive disorder.

Aug 26, 2021

Jae-Hyuck Shim, PhD, is inspired to develop a gene therapy for fibrodysplasia ossificans progressiva (FOP) after seeing the strength of families who have a child with the rare, crippling disease.

Aug 17, 2021

Two studies from the lab of Daryl Bosco, PhD, offer new insights into the biochemical and molecular mechanisms that cause amyotrophic lateral sclerosis.

Jul 29, 2021

UMass Medical School researchers Guangping Gao, PhD, and Dan Wang, PhD, are working with ASC Therapeutics to bring a gene therapy for maple syrup urine disease (MSUD) to the clinic.

Apr 27, 2021

Thomas Feldborg and Daria Rokina, of Denmark, chose to enroll their baby daughter, Alissa, in an investigational gene therapy for the treatment of GM2 gangliosidosis, which causes Tay-Sachs and Sandhoff diseases, to “let hope conquer the fears,” according to a report in USA Today chronicling their journey.

Apr 21, 2021

Apic Bio, a gene therapy company developing treatment options for patients with rare genetic diseases and co-founded by UMass Medical School’s Robert H. Brown Jr., DPhil, MD, announced that the FDA has cleared its investigational new drug application for APB-102, a gene therapy candidate designed to treat a common cause of familial amyotrophic lateral sclerosis.

Apr 8, 2021

UMass Medical School has entered into a three-year, collaborative research agreement with Pfizer to evaluate determinants that influence the manufacturing quality and yield of viral vectors used in gene therapy. The research at UMMS is being performed under the direction of Guangping Gao, PhD, and Dan Wang, PhD.

Apr 7, 2021

Six UMass Medical School scientists are among the members of the National Institutes of Health’s Somatic Cell Genome Editing Consortium to publish a paper in Nature outlining the program’s goals.

Mar 3, 2021

Oguz Cataltepe, MD, describes the innovative neurosurgical procedure used to treat patients in the new clinical trial for a gene therapy targeting infantile Tay-Sachs and Sandhoff diseases.

Feb 3, 2021

Sio Gene Therapies announced that the first patient with infantile Tay-Sachs disease has been dosed in a Phase I/II trial evaluating AXO-AAV-GM2, an investigational gene therapy for the treatment of GM2 gangliosidosis, which causes Tay-Sachs and Sandhoff diseases. Miguel Sena-Esteves, PhD, is a principal scientist of the research program at UMMS.

Rare disease research news from UMass Medical School

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

Sio Gene Therapies reports positive interim data for gene therapy trial

Riaan Research Initiative funds Cockayne syndrome gene replacement therapy research at UMass Chan Medical School

Behind the research: Jae-Hyuck Shim strives to unlock cure for devastating childhood bone disease

Two new studies from Daryl Bosco lab shed new light on ALS mechanisms

Guangping Gao and Dan Wang partner with ASC Therapeutics to develop novel gene therapy for maple syrup urine disease

USA Today reports on first baby in gene therapy clinical trial for Sandhoff, Tay-Sachs diseases

FDA clears investigational new drug application for ALS gene therapy candidate

UMMS establishes gene therapy collaborative research agreement with Pfizer

Erik Sontheimer co-leading efforts to develop gene editing toolkit by NIH Somatic Cell Genome Editing Consortium

Innovative neurosurgical technique used in Tay-Sachs gene therapy clinical trial

First patient dosed in clinical trial of gene therapy for Tay-Sachs and Sandhoff diseases