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

Mar 19, 2020 UMass Pilot Grant Program for Rare Disease Research Awards Funds to Two UMMS Researchers

UMass Pilot Grant Program for Rare Disease Research Awards Funds to Two UMMS Researchers

Two research scientists from UMass Medical School have been awarded funds for research on much-needed therapies for certain rare diseases that have a devastating impact on patients

Jul 17, 2019 UMMS scientists mark progress on Huntington’s disease research

UMMS scientists mark progress on Huntington’s disease research

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.

May 23, 2019 NIH administers first clinical trial treatment for GM1 gangliosidosis, a lysosomal storage disorder

NIH administers first clinical trial treatment for GM1 gangliosidosis, a lysosomal storage disorder

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.

Apr 19, 2019 John Landers receives $300K from Muscular Dystrophy Association to identify therapeutic targets for ALS

John Landers receives $300K from Muscular Dystrophy Association to identify therapeutic targets for ALS

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.

Apr 3, 2019 Novel strategy hits ‘reset button’ for disease-causing genetic duplications

Novel strategy hits ‘reset button’ for disease-causing genetic duplications

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.

Mar 28, 2019 UMass Medical School, Dana Farber/Boston Children’s researchers optimize gene editing for sickle cell disease

UMass Medical School, Dana Farber/Boston Children’s researchers optimize gene editing for sickle cell disease

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.

Mar 4, 2019 Two UMass Medical School research teams named STAT Madness 2019 contenders

Two UMass Medical School research teams named STAT Madness 2019 contenders

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.

Feb 27, 2019 UMass ALS Cellucci Fund team running for a cure at Boston Marathon

UMass ALS Cellucci Fund team running for a cure at Boston Marathon

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.

Feb 7, 2019 Michael Green named vice provost for strategic research initiatives

Michael Green named vice provost for strategic research initiatives

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

Feb 6, 2019 Rett Syndrome Research Trust provides $2.7 million in new funding for research

Rett Syndrome Research Trust provides $2.7 million in new funding for research

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.

Feb 5, 2019 Guangping Gao elected to American Academy of Microbiology

Guangping Gao elected to American Academy of Microbiology

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

Feb 4, 2019 The Conversation: Hemant Khanna on potential treatment for eye cancer using tumor-killing virus

The Conversation: Hemant Khanna on potential treatment for eye cancer using tumor-killing virus

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.

Jan 22, 2019 New podcast: Allan Jacobson helps make sense out of nonsense mutations in genes

New podcast: Allan Jacobson helps make sense out of nonsense mutations in genes

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.

Dec 13, 2018 UMMS licenses clinical-stage gene therapies for Tay-Sachs and similar diseases to Axovant

UMMS licenses clinical-stage gene therapies for Tay-Sachs and similar diseases to Axovant

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.

Nov 29, 2018 NIH grant supports UMMS research on ‘off switch’ for extra chromosome in Down syndrome

NIH grant supports UMMS research on ‘off switch’ for extra chromosome in Down syndrome

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.

Nov 6, 2018 Blu Genes Foundation gives UMMS $1.4M to bring Tay-Sachs gene therapy to clinical trial

Blu Genes Foundation gives UMMS $1.4M to bring Tay-Sachs gene therapy to clinical trial

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.

Nov 1, 2018 Robert Brown Jr. and Jonathan Watts honored by Angel Fund for ALS

Robert Brown Jr. and Jonathan Watts honored by Angel Fund for ALS

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.

Oct 31, 2018 UMass Medical School scientists safely deliver RNAi-based gene therapy for ALS in animal model

UMass Medical School scientists safely deliver RNAi-based gene therapy for ALS in animal model

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.

Sep 10, 2018 Guangping Gao named a top translational scientist by Nature Biotechnology

Guangping Gao named a top translational scientist by Nature Biotechnology

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.

Aug 13, 2018 New genome-editing strategy developed at UMMS may lead to therapeutics

New genome-editing strategy developed at UMMS may lead to therapeutics

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.

Rare disease research news from UMass Medical School