Rare disease research news from UMass Medical School

Neil Aronin, MD, led an afternoon of presentations detailing advances made by scientists at UMass Medical School in the quest to find a treatment for Huntington’s disease. CHDI Foundation President Robi Blumenstein accepted a plaque in recognition of the foundation’s $13 million in support of Huntington’s research at the medical school.

The first clinical trial of a gene therapy treatment based on discoveries made by UMass Medical School and Auburn University researchers has been administered in a child at the National Institutes of Health. UMMS researchers Heather Gray Edwards, PhD, DVM, and Miguel Sena-Esteves, PhD, collaborated with colleagues at Auburn University on the research.

John Landers, PhD, will use a $300,000 grant to identify new therapeutic targets for amyotrophic lateral sclerosis. The grant is one of eight totaling more than $2 million awarded by the Muscular Dystrophy Association for ALS research this month.

Scot A. Wolfe, PhD, and Charles P. Emerson Jr., PhD, discovered a “reset button” for disease-causing genetic microduplications using CRISPR gene editing and a rare, innate DNA repair mechanism.

Researchers at UMass Medical School and Dana-Farber/Boston Children’s Cancer and Blood Disorders Center have developed a strategy to treat two of the most common inherited blood diseases—sickle cell disease and beta thalassemia—applying CRISPR/Cas9 gene editing to a patient's own blood stem cells.

UMass Medical School has two research teams competing in the 2019 STAT Madness contest, in which readers are encouraged to vote online for the best pioneering biomedical research of 2018.

Five people will represent the UMass ALS Cellucci Fund in the 2019 Boston Marathon on April 15 to support amyotrophic lateral sclerosis research (ALS) underway at UMass Medical School.

UMass Medical School has created the role of vice provost for strategic research initiatives and named Michael R. Green, MD, PhD, to the post.

Jonathan Watts, PhD, and colleagues are advancing research to repair the disease-causing gene mutations in Rett syndrome thanks to $2.7 million in new funding from the Rett Syndrome Research Trust.

Guangping Gao, PhD, has been elected to the American Academy of Microbiology, the honorific leadership group of the American Society of Microbiology.

Hemant Khanna, PhD, an ophthalmology and visual sciences researcher, writes for The Conversation about a recent report in which scientists have found a new approach to target retinoblastoma using cancer-killing viruses. 

Allan Jacobson, PhD, studies the post-transcriptional control of gene expression, focusing on the consequences and corrections of “nonsense mutations”—errors in the genetic code that serve as periods in a genetic sentence. He explains his research in a new Voices of UMassMed podcast.

Axovant Sciences, a Swiss company developing gene therapies for neurological diseases, has licensed exclusive worldwide rights for the development and commercialization of two novel gene therapy programs for Tay-Sachs and Sandhoff diseases from UMass Medical School. 

Jeanne Lawrence, PhD, and Jaime Rivera, PhD, received a five-year, $2.8 million grant from the Eunice Kennedy Shriver National Institute of Child Health & Human Development at the National Institutes of Health to test a strategy in a mouse model for silencing the extra chromosome that causes Down Syndrome.

The Toronto-based Blu Genes Foundation, which is dedicated to developing gene therapies for rare disease, has given $1.4 million to UMass Medical School to advance a Phase I/II clinical trial for Tay-Sachs. Miguel Sena-Esteves, PhD, Terence Flotte, MD, Heather Gray-Edwards, PhD, DVM, and colleagues at  Auburn University are leading the research.

Jonathan K. Watts, PhD, and Robert H. Brown Jr., DPhil, MD, were recognized at the annual Angel Fund for ALS Gala on Oct. 27. The organization is a nonprofit charity dedicated to supporting Dr. Brown’s research.

A gene therapy delivered to motor neurons was able to silence SOD1 protein, mutations of which are linked to ALS, without causing any adverse effects, according to a new study published in Science Translational Medicine, by Christian Mueller, PhD, and Robert H. Brown Jr., DPhil, MD.

Guangping Gao, PhD, has been ranked one of the world’s top translational researchers, according to a new tabulation from Nature Biotechnology. The Top 20 Translational Researchers of 2017, published this month by Nature Biotechnology, places Dr. Gao fourth.

Researchers at UMass Medical School have developed a genome-editing strategy to correct disease-causing DNA mutations in mouse models of human genetic diseases. Dan Wang, PhD, is first author and Guangping Gao, PhD, is a co-corresponding author on the paper published in the Aug. 18 edition of Nature Biotechnology.

The new drug, patisiran, approved Aug. 10 by the FDA, is based on the discovery of RNAi made by Craig Mello, PhD, and Andrew Fire, PhD. It was developed by Alnylam, an RNAi-based drug development company co-founded by Phillip Zamore, PhD.