研究概况:圭多J. 要求米.D., Sc.D., M.P.H.
A neurologist also trained as a genetic epidemiologist, 圭多J. 要求米.D., Sc.D., M.P.H., has made it his goal to not only uncover common genetic mutations in intracerebral hemorrhage patients, but also better understand how the risk of this disease differs among ethnicities. The foundation of his research is today’s largest collection of genetic studies of intracerebral hemorrhage.
“The world of genomics and genetics has changed. It used to be that we thought DNA was a static thing and a mutation was a rare occurrence, and that people who had a mutation had a disease,”医生说。. 要求, assistant professor of neurology at Yale School of Medicine.
今天,科学家们知道情况并非如此. Mutations aren’t rare and people who have them might be at higher disease risk but not ever get the disease. “What we know now is that if you look at the general healthy population, there are about 50 million common variations in our genome, 也称为普通基因变异. My research focuses on understanding how these common genetic mutations influence the occurrence, severity and recurrence of stroke—particularly intracerebral stroke,” Dr. 要求说.
He aims to establish an association between one or more of these common mutations and intracerebral hemorrhage.
“That can tell us two things: by looking at the protein that is coded by the gene that contains the mutation, we can identify new biological mechanisms underlying the occurrence of intracerebral hemorrhage. And we can also use this genetic information to find new pathways to treat this type of stroke,根据博士的说法. 要求. “Once we identify one of these mutations, we can look at a combination of these mutations and try to gauge a person’s risk even before that person has the disease. That’s the world of precision medicine.”
Dr. 要求 has no plans to do his research in a vacuum. 他的目标, 事实上, 是让数据民主化, creating an open-source pipeline that make the information and 太ls to process it freely available investigators so they, 太, 会做研究.
Dr. 要求’s datasets of genomics and intracerebral hemorrhage are vital to stroke research also because they include different ethnicities. “Most genetic research so far has been done in whites. The data we’ll be working with contains almost equal portions of whites, 黑人和西班牙裔,根据博士的说法. 要求. “That’s important because we cannot assume that connections between mutations and disease identified for whites apply to other races.”
In fact, researchers already know the risk for intracerebral hemorrhage is not equal across races. The stroke type is more common among African Americans. The most important risk factor for intracerebral hemorrhage is hypertension, and this racial/ethnic group have a higher prevalence of hypertension.
This research could revolutionize the field of minorities’ research in intracerebral hemorrhage genetics by collecting, harmonizing and publicly sharing the largest trans-ethnic collection of genetic studies looking at this devastating disease to date, 据医生说. 要求.