Adding Function to Genome-Wide Association Results for Type 2 Diabetes and Other Metabolic Diseases

Melinda Claussnitzer, PhD
Melina Claussnitzer, PhD
MGH Research Scholar 2024-2029
Associate Investigator, Center for Genomic Medicine
Associate Professor of Medicine, Harvard Medical School

Type 2 diabetes and obesity afflict a large part of the world’s population. There remains a great unmet medical need for new treatments for these metabolic diseases, as current therapies target a limited number of processes of disease, and most patients respond either partially or not at all to these treatments.

It is known that drugs supported by human genetic evidence are substantially more likely to succeed in clinical development. However, the interpretation of genetic associations with disease is limited because we lack the tools to link disease genetics to disease driving biology.

I have dedicated my entire professional career to address this gap by systematically identifying the consequences of genetic variation at the molecular, cellular and physiological levels.

My team has strived to pioneer novel ways to convert large-scale genetic association study results to their underlying disease biology (Variant-to-Function, V2F), and thereby create a path between metabolic disease genetics and mechanistic inference toward patient-oriented research

We are enthusiastic about adding function to genome-wide association study results (Variant-to-Function, V2F studies) in the context of metabolic disease. My long-term goal is to transform patient care by traversing the path from metabolic disease genetics to actionable therapeutic targets, and disease-driving processes.

Our research program combines cutting-edge experimental strategies with computational models along with the development of patient-derived population-scale cellular biobanks to answer the most critical = question in genomic medicine: Which causal target and pathways drive a genetic association with metabolic disease?

The central piece of my lab’s work is our cellular biosampling effort – CellGenBank – which is a collaborative effort between the Weight Center and my lab at the Center for Genomic Medicine at MGH. Patients enrolled in our CellGenBank are simultaneously enrolled in the MGB Partners Biobank.

The MGH Research Scholar award will enable us to scale our AMSC biobank to 500 patients, thereby enabling population-scale mapping of genetic determinants of targets and disease processes.

I am deeply committed to develop the next generation of V2F strategies – a path to traverse the thousands of metabolic risk loci to therapeutically actionable disease biology.

Melina Claussnitzer, PhD
MGH Research Scholar 2024-2029