Curt Scharfe, MD, PhD, FACMG

Associate Professor of Genetics

Research Departments & Organizations

Yale School of Medicine

Research Interests

Automation; Biotechnology; Cystic Fibrosis; DNA; DNA Virus Infections; Genomics; Heart Defects, Congenital; High-Throughput Nucleotide Sequencing; Infant, Newborn, Diseases; Information Science; Metabolism, Inborn Errors; Microarray Analysis; Mitochondrial Diseases; Molecular Diagnostic Techniques; Prenatal Diagnosis; Proteomics

Research Summary

Our laboratory develops new tools and genomic approaches for comprehensive and rapid molecular diagnostics and the study of disease pathogenesis. We couple experimental and computational techniques to fully integrate all steps of highly multiplexed molecular assays, which include nucleic acid extraction from small clinical samples, targeted (gene panels, exome) and whole genome sequencing, detection of rare DNA variants and copy number changes, and data interpretation in the context of clinical findings. We use laboratory automation to increase assay precision and speed, and work on implementing new techniques and procedures into clinical screening diagnostics. Please read here about our most recent projects.

We are interested in collaborations of all sorts including clinical medicine, genetics and genomics, biochemistry, technology development, chemical and electrical engineering, statistics and computational sciences. We seek highly motivated students and postdoctoral candidates to join a multi-disciplinary team of experimental and computational scientists in a highly translational setting at the Yale Genetics Department. Our lab is next to the Yale DNA Diagnostic Laboratory and we collaborate with clinical colleagues and researcher at Yale and other institutions.

Please feel free to contact for open positions.

Extensive Research Description

Complete List of Published Work in MyBibliography:

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Contact Info

Curt Scharfe, MD, PhD, FACMG
Mailing Address
GeneticsPO Box 208005
333 Cedar Street

New Haven, CT 06520-8005