Altshuler Receives Outstanding Scientific Achievement Award for Diabetes-Based Genetics Research

Monday morning at the ADA’s 72^nd Scientific Sessions featured the National Scientific & Health Care Achievement Awards Presentation and Outstanding Scientific Achievement Award Lecture. This year’s recipient of the Outstanding Scientific Achievement Award was David Altshuler, MD, PhD, Professor of Medicine and Genetics at Harvard Medical School and Massachusetts General Hospital, Boston, for his work on genetic-based research regarding the inherited basis of type 2 diabetes, cholesterol levels, myocardial infarction, and a number of other conditions. Dr. Altshuler’s analysis included information from the Human Genome Project, population genetics, epidemiologic research, and clinical medicine.

Through their research analysis, Dr. Altshuler and his colleagues have been able to identify 50 novel regions of the human genome containing genes that influence the risk for type 2 diabetes, as well as for the risk of hyperglycemia, myocardial infarction, and dyslipiemia. The research team uses next-generation genome sequencing technologies in order to identify the pathophysiologic role of these novel genetic risk factors in greater detail. Their goal is to use this information to in order to identify new targets for the prevention and treatment of type 2 diabetes. Additionally, Dr. Altshuler and his colleagues are performing sequencing studies among various ethnic groups to better understand the disparities and genetic variants in different human populations.

Dr. Altshuler had an opportunity to discuss his ongoing research—which involves the genomes of 10,000 or more people—when he received his award on Monday morning. He began by crediting his colleagues and fellow researchers, saying that “science is a team sport, and I can’t imagine a better team to work with.” He then explained that there were 3 reasons he decided to become a geneticist after receiving his MD in endocrinology:

1) Important aspects of diabetes remain unidentified

2) These aspects limit and impede efforts to treat diabetes

3) We need more powerful methods to treat root causes in patients

Dr. Altshuler went on to briefly discuss high-level findings of his studies and mentioned a few ongoing genetic research studies that he is helping to spearhead, such as the SIGMA study, which aims to map out the genes of 9000 patients of Mexican descent.

But, after detailing the ongoing studies, Dr. Altshuler asked the audience, even if we are able to determine which genes play a role in diabetes, what do we want to know? “Some focus on prediction and personalized medicine,” said Dr. Altshuler. “I am less excited about this aspect and more interested in how this data will lead to better understanding and treatment [of diabetes].”

Dr. Atlshuler ended by saying that, although “99% of the genes in this audience” have been mapped, there still remains the issue of determining the purpose of many of these genes. Not knowing the purpose of a majority of these thousands of genes leaves “very few clues” as to where to look next. However, the lowest hanging fruit for progress, said Dr. Altshuler, is in instances where biological and genetics converge.

Here are some of the other awards that were given out at the ceremony.

Rachmiel Levine Award for Service

Geralyn R. Spollett, MSN, ANP-CS, CDE

Banting Medal for Service

Vivian Fonseca, MD

Harold Rifkin Award for Distinguished International Service in the Cause of Diabetes

Pierre J. Lefebvre, MD, PhD

Albert Renold Award for the Distinguished Service in the Training of Diabetes Research Scientists

George S. Eisenbarth, MD, PhD

Kelly West Award for Outstanding Achievement in Epidemiology

Knut Borch-Johnsen, MD, PhD

Outstanding Physician Clinician in Diabetes Award

Georgeanna J. Klingensmith, MD

Outstanding Educator in Diabetes Award

Robin Nwankwo, MPH, RD

Outstanding Discovery Award

Samuel Rahbar, MD, PhD

Banting Medal for Scientific Achievement

Bruce M. Spiegelman, PhD

For more information on the recipients of these awards, please visit the American Diabetes Association’s website.