The Researcher Who Led the Charge Against His Own Disease

“My vision is to help people like me who suffer from neurodegenerative diseases and for whom being alive is a daily struggle… Society needs scientists like us who can take tragedies and turn them into real innovation.” – Rahul Desikan, MD, PhD

His story began with a climactic rise in the world of academia and medicine. 

As co-leader of the UCSF Laboratory for Precision Neuroimaging, Rahul Desikan, MD, PhD, and his team developed a groundbreaking technique to predict the onset of Alzheimer’s disease. He had just begun the biggest-ever study of amyotrophic lateral sclerosis (ALS) – Lou Gehrig’s disease, which he’d been researching for decades – when in February 2017, Desikan himself was diagnosed with ALS. 

Diseases that affect the brain are particularly devastating, with the potential to redefine who we are at the most fundamental level. ALS spreads rapidly, causing progressive muscle paralysis and leading to death from respiratory failure in just two to five years. 

In the last years of his life, the diagnosis gave Desikan an entirely new perspective and a heightened sense of urgency. Unable to walk or talk, he worked from a wheelchair using a hands-free machine that enabled him to communicate. Although it took minutes to type a single sentence, that never stopped him. He continued to collaborate, innovate, and offer leadership until his death in July 2019. 

After his diagnosis, Desikan published 25 brain disease-related articles in major scientific journals. He and his team also announced the discovery of two genes newly linked to ALS in April 2019. 

The mind behind the machine moved at miles a minute until the end. 

Desikan’s co-leader in the UCSF Laboratory for Precision Neuroimaging, Leo Sugrue, MD, PhD, assistant professor in residence, and the lab continue working to find earlier detection methods, develop more effective treatments, and even prevent ALS from ever manifesting. The key lies in combining the collective knowledge of visionary scientists across UCSF, advanced genomics technology, and big data. 

By mining genetic information from 3 million people worldwide, the lab is searching for the genes that may be at the root cause of ALS. Using this information to create a database and analyze the genes shared between ALS and modifiable risk factors, like high cholesterol and inflammation, their team aims to develop an inexpensive screening method for the disease. 

Referred to as the polygenic hazard score (PHS), this multi-gene test would derive an individual’s risk of developing ALS by including information on an individual’s genetic profile and population-based estimates of developing ALS. The result would be the patient’s personalized genetic risk profile for ALS. In effect, the test would identify those who are at greatest risk for developing ALS. To support their research to develop the PHS, Desikan, his colleagues, and friends across the nation organized a crowdfunding campaign called Let’s Beat ALS. 

By better understanding ALS, the team can bring the world closer to not only learning who is at risk, but also create earlier detection of the disease and develop effective treatments – all with the singular goal of finally preventing ALS.


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