June 25, 2018

How a 'true genius' is opening new windows on ALS—while fighting the disease himself

Daily Briefing

    Rahul Desikan was one of the foremost researchers on amyotrophic lateral sclerosis (ALS) when he was struck with the disease—and now, unable to speak, walk, and hardly able to move, Desikan is working harder than ever to save others from the disease, Laurie McGinley reports for the Washington Post.

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    A rising star

    Desikan's first major achievement in his career was during his medical and doctoral studies at Boston University, in which he and researchers at Harvard University created what's called a "brain atlas," which allows clinicians to measure and label different areas of the brain while also tracking the effects of medication on the brain via scans, McGinley reports.

    By 2015, Desikan had moved to the University of California at San Francisco (UCSF) for a two-year fellowship in neuroradiology, and in the fall of 2016, he was offered an assistant professorship and his own lab—with his sights set on conducting one of the largest-ever studies of the genetics of ALS.

    Christopher Hess, chair of the UCSF radiology department, said Desikan was "on the most rapid trajectory of an academic that I think I'd ever seen." Hess said he's met "very few people who have true genius, and [Desikan] would be at the top of the list."

    Devastating news

    After being offered his job at UCSF, Desikan's voice started changing and becoming more nasally. Then, he noticed that his left arm was feeling weak. As time passed, Desikan's symptoms started to get worse, and he was diagnosed with ALS in early 2017.

    According to McGinley, ALS destroys the nerves associated with voluntary muscle movement. Each year, about 6,000 people in the United States are diagnosed with the disease. Most people with ALS die within five years of the disease's onset, typically from respiratory failure.

    Desikan's disease has progressed to the point where he can't speak and has lost the use of his hands and legs, confining him to a wheelchair.

    His continuing mission

    Despite his disease, Desikan has continued his research into ALS, as well as conducted research into Alzheimer's disease, Parkinson's disease, and schizophrenia. Since Desikan's ALS diagnosis, he has been an author—and typically a lead author—on 25 academic papers regarding the diseases.

    Desikan now uses a special mouse strapped to his forehead, which detects even the smallest movements and allows him to move a cursor on an on-screen keyboard, to continue his work, McGinley reports. Among his projects is a large ALS study he began before he was diagnosed with the disease.

    So far, Desikan's contributions have been significant, McGinley reports. Desikan recently led a team that was able to integrate genetic information to create a score that predicts the age of onset of Alzheimer's. And in April 2017, Desikan and his colleagues announced the discovery of two genes that are linked to ALS.

    According to Celeste Karch, a frequent collaborator with Desikan and a neuroscientist at Washington University School of Medicine, Desikan's work has opened "new areas of research in ALS that hopefully will benefit others down the line."

    Ultimately, Desikan hopes to either be able to prevent or cure ALS and Alzheimer's. Desikan said, "I love my research, and it gives me reason to live" (McGinley, Washington Post, 6/13).

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