Yesterday, Sam Singer (12) was announced as a Regeneron Science Talent Search semi-finalist for his research profiling underrepresented cancer patients. Singer, one of 300 semi- finalists selected from a pool of 1,760 applicants, won $2,000 for himself and $2,000 for the school.
In the summer of 2019, after a few months working in a lab at the Albert Einstein College of Medicine, a lack of racial and ethnic diversity in national genetic databases came up in the work. When Singer discussed this with genetics professor Dr. Cristina Montagna, his lab’s principal investigator (PI), she suggested it could be turned into a study, as cancer genetics databases often lacked diversity.
“People of color, especially Black and Hispanic people, are heavily underrepresented in these databases,” Singer said. “We don’t know if their cancer profiles are adequately considered when drugs are made or new treatments are developed.”
Singer found a separate study which had found that Black and Hispanic women experience relatively poorer cancer prognoses — shown through higher death rate, tumor stage, and recurrence rate — than white women, even after statistically adjusting for the quality of medical care. “There’s some genetic factor that makes them have worse cancer prognoses, but we don’t know what that is because we don’t have adequate samples on these genetic databases,” he said.
That August, Singer decided to study the genes that worsen Black and Hispanic women’s cancer prognoses because he was frustrated with the lack of equity in medicine and scientific research.
Singer and his lab sequenced DNA from between 60 and 70 tumor samples, primarily from patients of color, he said. He then used statistical testing to determine the genetic differences correlated with poor prognoses depending on a patient’s ethnicity. Singer was ultimately able to find eight of these pathogenic mutations.
Analyzing his data was a difficult task, as the distribution was non normal — clumped together unevenly. Singer had to extensively research how to determine if a gene was correlated with both race and ethnicity and with prognosis, he said. “The statistical research was so abnormal, I had to meet with people and do the same statistical tests over and over and over again in order to get it right.”
Montagna played a major role, offering him guidance through all stages of his process. Her help was crucial especially since Singer was inexperienced in genetic oncology.
“Some days I would go into her office ten times and say ‘can I ask you a quick question?’” Singer said. Apart from Montagna, the lab’s biostatician and other people in the hospital system helped Singer with his research, he said.
In November, Singer entered his research into the Regeneron Science Talent Search after friends who completed their own research suggested it to him. Singer saw it was a worthwhile opportunity because he would be able to learn from other researchers and because he had meaningful and unique research to share with his peers.
Upper Division Science Teacher Dr. Christine Leo helped Singer with his submission to Regeneron last year. Leo read over Singer’s research manuscript and advised him about his research, Singer said. For the Regeneron Science Talent Search, Leo edited a few drafts of Singer’s paper and gave him some advice about the application which consisted of personal essays and a research paper on Singer’s project, she said. “Sam is certainly deserving of this award. He has done incredible work and I look forward to seeing what he does next,” she said.
On January 21, Regeneron will release the names of the scholarship’s 40 finalists. Each finalist will be awarded a minimum of $25,000 and spend a week in Washington D.C. presenting their research to other finalists and thousands of visitors, including many notable members of the scientific community.
“A lot of scholars had interesting research,” Singer said. “I’d be really excited to share my own research with them because it addresses more of the social side of health and how medicine is impacted by the systemic disparities in this country, which I don’t think people talk or think about enough.”