Friday, February 26, 2010
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Noted ALS geneticist Robert Brown, MD, DPhil to team with RNA scientists

WORCESTER, Mass. — As part of an effort to accelerate scientific research towards a cure for amyotrophic lateral sclerosis (ALS), a degenerative neurological disorder, University of Massachusetts Medical School (UMMS) scientist Robert Brown, MD, DPhil, received an $800,000 grant from P2 ALS to investigate the possible use of RNA biology in ALS research and therapies. P2 ALS is a three-year, $15 million joint venture between Project ALS and the Robert Packard Center for ALS Research at Johns Hopkins University aimed at fostering collaboration among research scientists and physicians in the quest to cure ALS.

Dr. Brown and his colleagues at the UMMS RNA Therapeutics Institute (RTI), which includes 2006 Nobel Laureate Craig C. Mello, PhD, will use the funds to screen new methods of delivering small RNA molecules to the central nervous system and establish biomarkers to test the efficacy of the administered small RNAs. One of the leading researchers in the field of ALS genetics, Brown identified in 1993 the first gene linked to familial ALS, a protein anti-oxidant known as superoxide dismutase, or SOD1. Since then he has uncovered several gene mutations linked to ALS, including last year’s discovery of the FUS/TLS gene mutation, the publication of which was named a “New Hot Paper” in the field of neuroscience and behavior by Thomson Reuters ScienceWatch as one of the most-cited papers in its discipline published during the past two years.

“At UMMS there is a wonderful propensity for the basic scientists to allow those of us working in the clinical world to pick their brains so we can better understand diseases like ALS,” said Brown, chair and professor of neurology. “This grant helps take some of the ideas we’ve been talking about and move them forward by developing a core facility for genetic study.”

Scientists believe RNA interference, with its ability to create and regulate the complex patterns of gene expression, holds immense potential as a therapeutic for neurodegenerative diseases such as ALS. “However, the limiting factor in using RNA interference to potentially treat ALS is our inability to deliver small RNA molecules to neurons in the central nervous system,” said Melissa J. Moore, PhD, one of the co-directors of the RTI; she is also a Howard Hughes Medical Institute Investigator and professor of biochemistry & molecular pharmacology at UMMS. “There’s no shortage of RNA compounds available for testing, but we don’t yet have an effective way to deliver them to the central nervous system or to detect if they are effective. These two projects combined will help facilitate our ability to eventually deliver these compounds.”

The University of Massachusetts Medical School is home to some of the leading researchers in the field of RNA biology. The RNA Therapeutics Institute includes co-directors Victor R. Ambros, PhD, Silverman Chair in Natural Sciences and professor of molecular medicine; Phillip D. Zamore, PhD, Howard Hughes Medical Institute Investigator, Gretchen Stone Cook Chair in Biomedical Sciences and professor of biochemistry & molecular pharmacology; Nobel Laureate Craig C. Mello, PhD, Howard Hughes Medical Institute Investigator, Blais University Chair in Molecular Medicine and professor of molecular medicine and cell biology; and Moore. Collectively, this group is studying the fundamental biology and mechanisms of cellular RNAs and how these molecules create and regulate the complex patterns of gene expression that make plant and animal life possible.

“Its very exciting for us to think about the possibilities of combining the leading experts in the field of RNA research and gene silencing with the leading figure in the field of ALS genetics,” said Valerie Estess, director of research for Project ALS. “The field of gene silencing holds tremendous promise and we’re excited to be steering that promise to finding a cure for this disease.”

Also known as Lou Gehrig’s disease, ALS, is a progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. As motor neurons die, the brain’s ability to send signals to the body’s muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and ultimately death from respiratory failure. The cause of most cases of ALS is not known.

About the University of Massachusetts Medical School
The University of Massachusetts Medical School, one of the fastest growing academic health centers in the country, has built a reputation as a world-class research institution, consistently producing noteworthy advances in clinical and basic research. The Medical School attracts more than $240 million in research funding annually, 80 percent of which comes from federal funding sources. The mission of the Medical School is to advance the health and well-being of the people of the commonwealth and the world through pioneering education, research, public service and health care delivery with its clinical partner, UMass Memorial Health Care. For more information, visit

About Project A.L.S.
Jenifer Estess, her sisters and friends, started Project A.L.S. in 1998, when Jenifer was diagnosed with ALS. Since then, Project A.L.S has been a catalyst and a leader in the effort to identify and develop potential treatments. The mission of Project A.L.S. is to provide a new paradigm for neurodegenerative disease research. It identifies the world’s leading researchers and clinicians and mobilizes them to work together as teams in the areas of Genetics, Drug Discovery, Stem Cells, and Disease Pathways. Founded in 2006, the Project A.L.S./Jenifer Estess Laboratory for Stem Cell Research in New York is the world’s first and only privately funded laboratory to focus exclusively on stem cells and ALS.

About the Robert Packard Center for ALS Research at Johns Hopkins University
The Robert Packard Center for ALS Research was initiated in 2000 to bring together leading ALS researchers and clinicians to collectively and collaboratively work out the fundamental mechanisms as to why ALS occurs, what biological and molecular pathways contribute to the disease, and to use that information to develop novel therapies. It was conceived by scientists and clinicians and is fully run by active ALS and non-ALS scientists. The Packard Center is a truly unique organization dedicated to the strategic integration of scientific research and therapeutics development. The core of the model, and of the Center’s mission, is to connect the best researchers and clinicians to collaboratively discover the cause of ALS and to rapidly translate that information into real therapeutics. This novel research model has demonstrated its validity by accelerating the pace and breadth of discovery in ALS and establishes a new blue print for orphan disease research in general.