He and his laboratory team have participated in several successful genome wide SNP association studies for diseases such as Alzheimer’s disease, progressive supranuclear palsy, amyotrophic lateral sclerosis, schizophrenia, age-related hearing impairment, and otosclerosis. Their work in this research has led to the identification of several genes associated with individualized altered predisposition to disease as well as the elucidation of multiple novel pharmaceutical targets.

It is clear that the next phase of human genomics will revolve around the rapidly emerging field of whole genome sequencing. His team has extensive expertise in the area of next generation sequencing, a technique under use in his laboratory since early 2008. He currently uses the approach to sequence both candidate genes and large association peaks to identify functional variants.

Dr. Huentelman’s group also has a burgeoning interest in protein biomarker identification in neurological disease. His team focuses on exploring the possibility of developing a blood-based test to determine an individual’s risk of developing disease before the clinical manifestation of symptoms. This is especially important for a disorder like autism where currently the only effective therapy is behavior intervention approaches and these benefit greatly if instituted as early as possible in the at-risk child’s life. For Alzheimer’s disease the development of a protein biomarker for pathological progression of the disorder is where his laboratory is currently focused. The goal for these studies is to provide a set of markers that could monitor an individual’s pathological progression through a simple blood test.

Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute where he investigated the application of gene therapy in the study of hypertension. His undergraduate degree is from Ohio University's Department of Chemistry and Biochemistry at Clipinger Laboratories. Dr. Huentelman's career includes visiting researcher stints in Moscow, Russia at the MV Lomonosov Moscow State University “Biology Faculty” and in the United Kingdom at the University of Bristol’s Department of Physiology. He has published over 35 peer-reviewed manuscripts in the scientific literature, and a select list of these can be found by clicking on the “Selected Publications” tab above.