Leslie G. Biesecker

Dr. Leslie G. Biesecker serves as Director & NIH Distinguished Investigator leading the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. His work bridges clinical practice and genomic research with focus on elucidating genetic mechanisms of rare developmental disorders.

Educational background includes:

• B.S. from University of California, Riverside
• M.D. from University of Illinois College of Medicine
• Pediatrics training at University of Wisconsin
• Clinical and molecular genetics training at University of Michigan

His research program centers on precision genomics with dual foci: (1) rare disorders of development and overgrowth including Proteus syndrome, PIK3CA-related overgrowth, and Pallister-Hall syndrome; and (2) hypothesis-generating clinical genomics through the ClinSeq^® program. The laboratory employs integrated clinical-molecular approaches, massively parallel sequencing, and animal models to investigate genotype-phenotype correlations while developing therapeutic strategies targeting the AKT/PIK3CA pathway. Recent work expands into pharmacogenetics and cancer susceptibility gene evaluation.

Key publication trends reveal consistent leadership in rare disease gene discovery (2000-2012), methodological innovation in genomic analysis (2009-2013), and translational implementation of genomic medicine (2013-2016). Research spans molecular genetics, clinical diagnostics, and therapeutic development with strong emphasis on somatic mosaicism and pathway-targeted treatments.

Major recognitions include:

• Election to National Academy of Medicine
• Presidency of American Society of Human Genetics (2019)
• NIH Distinguished Investigator appointment

Dr. Biesecker co-directs a CLIA-certified molecular diagnostic laboratory and serves on editorial boards for four biomedical journals. His advisory roles include Illumina Corporation consultation and World Trade Center victim identification efforts. The Precision Genomics Section maintains active recruitment for clinical protocols studying rare disorders through the NIH Clinical Center, with recent expansion into therapeutic interventions for overgrowth disorders.

Current lab structure includes staff scientists (Jennifer Johnston), genetic counselors (Julie Sapp), research scientists (Marjorie Lindhurst), and postdoctoral fellows working on genomic analysis and clinical protocols.