What incentives do scientists have to study rare diseases? | Explained Premium

Explore the cutting-edge research of three Breakthrough Prize laureates in Life Sciences, and the systemic issues that influence access to treatments for three diseases desperately looking for cures: Parkinson’s disease, cystic fibrosis, and cancer.

Founded by the millennial world’s most famous billionaires, the Breakthrough Prizes may not yet rival the Nobel Prizes in prestige, but the so-called “Oscars of Science” do offer three-times as much prize money. The 2024 prizes in the Life Sciences category recognised groundbreaking research set to change the lives of those suffering from three debilitating diseases: Parkinson’s disease, cystic fibrosis, and cancer.

These discoveries, along with the contexts and controversies surrounding them, exemplify the state of cutting-edge medical biology today.

“There are about 7,000 known rare diseases, affecting around 8% of the world’s population” and “75% of rare disease patients [are] children,” according to the Ministry of Health and Family Welfare. Despite these sobering numbers, there is little research underway on rare diseases.

Relatively few people are diagnosed with these diseases, so most drug-makers and pharmaceutical companies are unwilling to invest money in them. The result: many of these diseases continue to be poorly understood while treatment and cures remain elusive.

Despite the odds, some scientists doggedly pursue research into rare diseases. Ellen Sidransky, a clinical geneticist at the U.S. National Institutes of Science, is one of them. For more than 25 years, she has been studying Gaucher disease, an inherited metabolic disorder affecting 1 in 57,000 people worldwide. It has also been reported in India. Dr. Sidransky however won the Breakthrough Prize for her work on Parkinson’s disease.

“Parkinson’s is a neurodegenerative disorder,” Krishna Deepak, a computational biologist at Azim Premji University, Bengaluru, said. “It happens when the neurons in the part of the brain that controls motor function and has impacts on cognition and other bodily functions start dying off.”

The reason for this neuronal cell death is a pile-up of protein aggregates that resist being cleared up. This is bad news because unlike other cells in the body, neurons aren’t replenished as readily. Before long, physiological symptoms turn up. “An affected individual’s arms will violently shake even while trying to do basic stuff like picking up a pen,” said Dr. Deepak, describing tremors, a characteristic symptom of Parkinson’s.