David Buchner

David Buchner is an Associate Professor in the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine, with a secondary appointment in the Department of Biochemistry and affiliation with the Research Institute for Children's Health. His research focuses on identifying genes underlying endocrine disorders, from rare monogenic diseases to complex polygenic traits, with a particular emphasis on insulin signaling and glucose regulation in adipocytes.

• Education: PhD in Human Genetics from the University of Michigan under Dr. Miriam Meisler.
• Postdoctoral Training: Dr. David Ginsburg (HHMI, University of Michigan) and Dr. Joe Nadeau (Case Western Reserve University).

The Buchner lab combines studies of rare human disorders with animal and cellular modeling to uncover disease genes and their molecular mechanisms. Key projects include investigating glucose regulation in adipocytes and identifying novel disease genes for pediatric endocrine disorders such as reproductive disorders, short stature, and hypoglycemia. Using genomic technologies and classical cell biology, the lab explores how adipocytes influence obesity and type 2 diabetes, including transcriptional regulators of insulin sensitivity.

Recent publications highlight work on epistasis in glucose homeostasis, ciliary dysfunction in syndromic short stature, mitochondrial protein roles in ovarian insufficiency, and adipocyte-specific gene deletions causing metabolic disorders. These studies integrate genomics, animal models, and molecular biology to address rare diseases and broader metabolic health implications.

The lab collaborates with multidisciplinary teams and utilizes whole exome/genome sequencing to solve diagnostic odysseys, improve prenatal counseling, and identify therapeutic targets. David’s career spans postdoctoral research on bleeding and metabolic disorders and assistant professorship at the University of Michigan’s Life Sciences Institute, focusing on obesity and diabetes pathophysiology.