Teepu Siddique, a professor of neurology and cell molecules at the Feinberg School of Medicine, received a $3.5 million grant to study the genetic component of Lou Gehrig’s disease.
The disease, also known as amyotrophic lateral sclerosis or ALS, is a neurodegenerative disorder that causes sufferers to lose muscle control. There is no cure and no way to treat the disease. Ninety percent of people with the disease die within five years, Siddique said.
ALS affects motor coordination, but the mental capacity of those with the disease remains intact. Siddique said this makes the suffering worse because the sufferers are aware of their pain.
ALS usually hits at midlife but Siddique said he has seen sufferers as young as 13. One in 800 women and one in 600 men will be afflicted with ALS.
“It’s a challenging disease,” Siddique said. “People see autonomy and pride and dignity all lost.”
The grant, from the National Institute of Neurological Disorders and Stroke, will fund the Siddique’s study of families and individuals with ALS to find how the disease is inherited. According to the institute, 5 percent to 10 percent of ALS cases are inherited.
The grant will be shared between Siddique and researchers at Massachusetts General Hospital, Duke University and Vanderbilt University who have collaborated to study the genetic components of ALS.
Siddique’s team, the first to look into the genetic composition of ALS, discovered its only known causes: a gene mutation found in 2 percent to 3 percent of patients and a rare gene “Alsin” found in some sufferers. Now they are focusing on Chromosome 19, which they think has an association with ALS.
“Other studies dream up some theory and follow some trend like stem cell research,” Siddique said. “Unless you know what to target, how can you find a cure? It’s like knowing about AIDS but not how to treat it.”
Siddique began studying the genetics behind ALS in 1982. He was trained in neuromuscular diseases and was interested in ALS because it was a “complete black box.” He said he eventually grew frustrated with conducting drug trials for ALS without knowing its cause.
Lisa Dellefave, a genetic counselor at Feinberg, agreed that searching for a genetic component to ALS is key to finding a cure.
“The main goal is understanding the disease so you can figure out how to treat and prevent it,” Dellefave said.
Siddique spent seven years finding people to participate in his study. The ALS sufferers are usually grateful to participate in the study because it’s a way to possibly help others avoid the suffering they have gone through, Dellefave said. A genetic study is of particular interest because participants might be able to help their families.
“It’s a disease that can progress rapidly and affects people’s ability to do everyday functions,” Dellefave said. “For some, the research is a way to impact others. One of the concerns in the back of their minds is to help them perform a risk assessment of their own family.”
Reach Diana Scholl at [email protected]
