“What we as a group and other groups are trying to do is through the use of discarded human biopsies … we’re repurposing these as a way to understand the kind of single cell variety that exists,” said Ben Cosgrove, an assistant professor at Cornell University’s Meinig School of Biomedical Engineering.Ĭosgrove, who is responsible for data acquisition and computational development for Lek’s project, compared the work to “building a map” of “cellular diversity” - describing cell types as one would individuals in a city.
Other teams are working to create a heart cell atlas, a brain map, a human cell atlas of the eye and one of cells during intestinal development, CZI’s website says. Lek’s current work will go forward thanks to a $3 million grant from the Chan Zuckerberg Initiative, or CZI, according to an article on the Yale School of Medicine’s website.ĬZI is funding a number of similar projects, each of which aim to build cell atlases for different types of tissues. “If I wanna see advancements in, you know, in my disease … I actually have to get up and contribute.” It was more out of necessity of wanting to do something about my disease,” he said. “It was not my dream to become a scientist. When the disease first manifested, he was having trouble walking long distances, easily losing his balance and struggling to remain standing on public transportation for long periods of time, he said.Īfter he was diagnosed, he realized he would never be satisfied unless he changed careers. When he leaves his home he relies on a wheelchair, he said, adding that he does not use one inside the house because he is familiar with the environment. Lek, now in his 40s, said he has Limb-Girdle Muscular Dystrophy, which causes weakness in the limbs and girdle area.
Muscular dystrophy is characterized by a progressive weakening of muscles and limits mobility, according to the Centers for Disease Control and Prevention. By determining which genes are turned on in healthy cells, he said, it will be easier to isolate which variants in unhealthy cells cause rare diseases such as muscular dystrophy. Lek hopes the atlas for skeletal muscle will shed light on which mechanisms cause rare disease.
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