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

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.

Nov 9, 2020

Axovant Gene Therapies, a clinical-stage company developing innovative gene therapies based on UMass Medical School research discoveries, has announced that the FDA has lifted its clinical hold and cleared Axovant’s Investigational New Drug application to initiate a registrational study of gene therapy to treat patients with Tay-Sachs disease and Sandhoff disease.

Oct 20, 2020

The Foundation to Fight H-ABC has announced sponsored research agreements with UMass Medical School and Yale University to advance a targeted gene therapy for this rare degenerative children's disease. Guangping Gao, PhD, is leading the work at UMMS.

Oct 16, 2020

An influential scientific journal’s list of top translational biotech researchers for 2019 includes Guangping Gao, PhD. Rankings are based on total patents for the year, among other factors.

Oct 9, 2020

MD/PhD candidate Kevin Gao has received a Ruth L. Kirschstein National Research Service Award Individual Predoctoral Fellowship to study a rare autoinflammatory disease in infants called STING-associated vasculopathy with onset in infancy.

Sep 22, 2020

MassBiologics of UMass Medical School has entered into an agreement with PTC Therapeutics to manufacture biological investigational new drugs and commercial pharmaceutical products for use in humans.

Jul 8, 2020

UMass Medical School and Massachusetts General Hospital are the first to safely treat two research participants with a synthetic microRNA, delivered into the spinal fluid, designed to silence a human disease-causing gene. Details of the treatment appear in the New England Journal of Medicine.

Jun 23, 2020

UMass Medical School postdoctoral associate Yasaman Gholamalipour, PhD, was awarded the Huntington’s Disease Society of America Berman-Topper Family HD Career Development Fellowship for 2020.

Rare disease research news from UMass Medical School

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

FDA clears IND application for Tay-Sachs gene therapy

H-ABC Foundation partners with UMass Medical School and Yale to study gene therapy for H-ABC

Guangping Gao makes list of Nature Biotechnology Top 20 translational researchers

Kevin Gao receives Kirschstein Award for research into role of B cells in pulmonary fibrosis caused by SAVI

MassBiologics announces partnership with PTC Therapeutics to manufacture gene therapy for rare pediatric condition

Silencing of an ALS gene safely delivered to patients in UMass Medical School study

Yasaman Gholamalipour awarded fellowship by Huntington’s Disease Society of America