Rare disease research news from UMass Medical School


 Miguel Sena-Esteves, PhD

Promising therapy for fatal genetic diseases in children nears human trials

Researchers at UMass Medical School and Auburn University College of Veterinary Medicine are nearing human clinical trials on a genetic therapy for two rare neurological diseases that are fatal to children.



 Fen-Biao Gao, PhD

Fen-Biao Gao, inaugural Cellucci Chair, studies ALS, FTD

Fen-Biao Gao, PhD, professor of neurology, was recently named the Governor Paul Cellucci Chair in Neuroscience Research. He is investigating amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord; and frontotemporal dementia (FTD), an age-dependent neurodegenerative condition associated with focal atrophy of the frontal or temporal lobes.



 Robert H. Brown Jr., DPhil, MD, speaking at Investiture in at UMass Medical School in September2012

Robert H. Brown Jr. tells Boston Globe why he’s committed to an ALS cure

In an interview with the Boston Globe, internationally recognized amyotrophic lateral sclerosis (ALS) researcher Robert H. Brown Jr., DPhil, MD, said he believes a breakthrough is within reach and explained his motivation in working to find it.



 Neil Aronin, MD

Neil Aronin studies gene silencing to treat Huntington’s disease

Neil Aronin, MD, professor of medicine, co-director of the Neurotherapeutics Institute and a globally recognized leader in the field, is exploring a promising new therapeutic approach to the disease based on gene silencing or RNA interference. 



 Members of the program project grant team, left to right, include Terence R. Flotte, MD; Wen Xue, PhD; Guangping Gao, PhD; Christian Mueller, PhD; and Mai ElMallah, MD.

Five-year, $11 million grant to fund new approaches to gene therapy

An innovative program project grant that will fund new approaches to gene therapy for alpha-1 antitrypsin deficiency has been awarded to a multidisciplinary team of researchers and clinicians at UMass Medical School by the National Heart, Lung and Blood Institute. The grant, totaling more than $11 million over five years, will be used to investigate three different genetically based approaches to treat the disease.



 In the Gao lab are, (from left,) Dominic Gessler, Rachel Epstein (seated), her sister, Jessica, and Guangping Gao, PhD.

Newsweek: UMass Medical School develops gene therapy for rare neurodegenerative disease

Researchers in the lab of Guangping Gao, PhD, have developed a novel gene therapy that cures the rare, inherited neurodegenerative disorder Canavan disease in mice and is on track to be brought to clinical trial, according to an April 28 article in Newsweek.



 Monica and Chelsea Coenraads at their home in Connecticutt

UMMS scientist aiding a mother’s quest for rare disease cure

UMass Medical School scientist Michael R. Green, MD, PhD, globally known for his work in gene regulation, keeps in mind the image of children who suffer from Rett Syndrome as he works toward finding a drug that would reverse the disease. Dr. Green, a Howard Hughes Medical Institute Investigator, the Lambi and Sarah Adams Chair in Genetic Research and professor of molecular medicine and biochemistry & molecular pharmacology, received a $750,000 grant from Rett Syndrome Research Trust for research aimed at reversing the underlying cause of the disorder.



 Gene therapy for retinal disease

UMMS experts: New gene therapy success holds promise for degenerative retinal diseases

Claudio Punzo, PhD, and Hemant Khanna, PhD, gene therapy researchers at UMass Medical School focused on degenerative retinal diseases, are calling a promising new study out of the University of Oxford the “future” of gene therapy, after clinical trial participants with a rare eye disease experienced significant improvement in their vision.