David Buchner, PhD

Associate Professor
Department of Genetics and Genome Sciences
School of Medicine

David Buchner received his PhD in Human Genetics from the University of Michigan in Dr. Miriam Meisler's lab where he identified and characterized a modifier gene for neurological disease. He did postdoctoral fellowships in the labs of Dr. David Ginsburg (HHMI, University of Michigan) and Dr. Joe Nadeau (Case Western Reserve University) where he used animal models to identify novel disease genes for bleeding disorders and metabolic disease. He continued studying the pathophysiology of obesity and diabetes while working as an Assistant Research Scientist in Dr. Alan Saltiel's lab in the Life Sciences Institute at the University of Michigan. David joined the faculty at the Case Western Reserve University School of Medicine in 2013 as an Assistant Professor in the Department of Genetics and Genome Sciences with a secondary appointment in the Department of Biochemistry and the Research Institute for Children's Health.

Research Information

Research Interests

The Buchner lab combines studies of rare human disorders with animal and cellular modeling to identify new disease genes and discover their underlying molecular mechanisms. To accomplish this, we use classic cell biology approaches with newer genomic technologies. Although the lab is broadly interested in the genetics of endocrine disorders, our particular molecular focus is on the role of adipocytes in glucose homeostasis and type 2 diabetes.

Research Projects

1) The molecular basis of glucose regulation in adipocytes

Adipocytes are the body's primary site for lipid storage and act as signaling centers to coordinate the physiological response to an organism's nutritional and metabolic state. Adipocytes are therefore central to the pathogenesis of obesity and type 2 diabetes. My lab is interested in better understanding the genes and molecules that govern adipocyte function, including how these cells respond to the hormone insulin. We have identified novel transcriptional regulators that are central to the function of adipocytes and continue to understand the mechanism of how these genes govern insulin sensitivity, and how many genes together function to regulate this complex molecular process.

Representative publications:

Chen A, Liu Y, Williams SM, Morris N, Buchner DA. (2017)
Widespread epistasis regulates glucose homeostasis and gene expression.
PLOS Genetics; 13:e1007025.

Charrier A, Xu X, Guan BJ, Ngo J, Wynshaw-Boris A, Hatzoglou M, Buchner DA. (2021)
Adipocyte-specific deletion of zinc finger protein 407 results in lipodystrophy and insulin resistance in mice.
Mol Cell Endocrinol; 521:111109.

2) Identification of novel disease genes underlying pediatric endocrine disorders

To date, only half of the genes underlying monogenic disorders have been identified. The identification of novel disease genes can benefit patients by creating opportunities for prenatal genetic counseling, improving clinical diagnoses, solving diagnostic odysseys, and helping to discover new therapeutic targets. In addition, we can learn more about normal and pathological development and gene function. Our lab combines genomics approaches including whole exome and whole genome sequencing with animal and cellular studies to identify novel genetic cause of pediatric endocrine disorders including reproduction and fertility, short stature, and hypoglycemia, among others.

Representative publications:

Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, Hoppel CL, Salz HK, Lupski JR, Buchner DA. (2018)
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Human Molecular Genetics; 27(11):1913-1926.

Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA. (2019)
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genetics 15(4):e1008088.