Robert H. Brown Jr., DPhil, MD
Robert H. Brown Jr., DPhil, MD, chair and professor of neurology, and an international leader in the quest to find a cure for amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) and other neuromuscular diseases, has been elected into the Association of American Physicians (AAP), an organization founded in 1885 for the advancement of scientific and practical medicine.
“This honor recognizes the tremendous impact Bob’s research has had on advancing our understanding of neurodegenerative disorders,” said Robert W. Finberg, MD,the Richard M. Haidack Professor of Medicine, chair and professor of medicine and professor of molecular genetics & microbiology. “A model of patient advocacy, compassion and dogged scientific inquiry, Bob is tireless in his efforts to find a cure for the thousands of people suffering from ALS and other neuromuscular diseases.”
The goals of the AAP and its members include the pursuit of medical knowledge and the advancement through experimentation and discovery of basic and clinical science and their application to clinical medicine. Comprising 1,300 active members and approximately 550 emeritus and honorary members—including Nobel laureates and members of the National Academy of Science and the Institute of Medicine—from the United States, Canada and other countries, the AAP serves “as a repository of the best medical minds and as a forum to create and disseminate knowledge, and to provide role models for upcoming generations of physicians and medical scientists.” Approximately 55 to 60 new members are formally elected each year at the association’s annual meeting, where members share their scientific discoveries and contributions. This year’s meeting was held April 15 to 17 in Chicago.
For 20 years, Dr. Brown has led the fight against ALS with his groundbreaking basic and clinical research. It is estimated that each year 5,000 people in the U.S. are newly diagnosed with ALS, 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, leading to the loss of voluntary muscle movement, paralysis and eventually death from respiratory failure. The average survival rate for patients with ALS is three to five years after diagnosis.
In 1993, a team of researchers led by Brown discovered the first gene linked to familial ALS, a protein antioxidant known as superoxide dismutase, or SOD1. Since then, Brown and his collaborators have identified other genes, such as FUS/TLS, that cause familial ALS. With colleagues at UMass Medical School, he helped identify the KIFAP3 gene variant, which influences survival among ALS patients.
In October 2010, Brown and his team uncovered new evidence suggesting that the SOD1 gene, which is implicated in 20 percent of inherited cases of ALS, also may play a part in the more common sporadic forms of the disease. When he began researching ALS, Brown believed that one day his work with familial ALS would yield new insights into the more common sporadic form of the disease. “It’s been hypothesized that there are common pathogenic pathways between familial and sporadic ALS,” said Brown. “Our new findings strongly suggest that is the case.”
Brown has also identified genes implicated in other inherited neurodegenerative and neuromuscular diseases such as hyperkalemic periodic paralysis, Miyoshi muscular dystrophy and hereditary sensory neuropathy.
Gene connection extends possible treatments to more ALS patients