Inspiration for a career in science can come from all kinds of sources. For Diane Shao, a neurogeneticist at Boston Children’s Hospital and general partner at Legacy Venture Capital, her mother motivated her to take the plunge into biotechnology. For Jorge Diego Martin-Rufino, a physician-scientist at the Broad Institute and Boston Children’s Hospital, it was the pioneering geneticist Eric Lander who advised him during his PhD. And Ramisa Fariha, a biologist at Brown University’s RNA Center, mentions a more unlikely figure: famed wrestler Dave Bautista.
Despite these differences, all three are members of this year’s STAT Wunderkinds class, which recognizes rising stars in the fields of health and medicine. Speaking at the STAT Summit 2024 in Boston, the trio discussed the importance of translating research into practical help for patients, as well as the need to address structural issues that make delivering care difficult.
“We get to see the real unmet medical needs, but instead of just accepting the situation as it is, we can really try to create new therapies that still don’t exist,” Martin-Rufino said.
Each of the three works to translate research into innovative ways to diagnose diseases. Fariha explained that she was inspired to work in women’s health care after reading about Bautista’s ex-wife’s battle with ovarian cancer. Coming from a small town in Bangladesh, “we never really talked about reproductive health, and for me it was surprising that I had this organ, and that I had the potential to get ovarian cancer later, and I never something of conscience. . It wasn’t taught in school,” she said.
In the years since, she has used her training as a biologist to work on the development of cheap, accessible diagnostics for polycystic ovary syndrome and ovarian cancer.
Martin-Rufino, who is both a doctor and a researcher, is working to better understand the human genome and what each part of it does. Specifically, he said, his goal is to “shift hematology, the specialty that treats blood disorders, from a treatment-heavy specialty to a preventive specialty. We want to be able to treat cancer before it occurs.”
Similarly, Shao seeks to understand how genetic variations between individual cells in the developing brain can lead to developmental disorders. Traditionally, she said, people think that babies get two different sets of genes: one from each parent. But “every time a cell divides, it makes mistakes,” she explained. “And so if you think about how many brain cells we have – let’s say 6 billion neurons – there are at least 6 billion errors in the body.”
As the three work toward potentially transformative discoveries, they agreed that access to the fruits of those discoveries is often a barrier for patients. “The biggest challenge is still access for patient care,” says Shao. “The families that come to see me really have a certain level of resources. They are the ones who have the money to fly across the world or across the country, to take time off from work and school, to bring in their child. I think that is not just a health problem, but a problem of social systems.”