Curt Scharfe, MD, PhD

Associate Professor of Genetics

Research Interests

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

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 diagnostics. We are interested in collaborations of all sorts including clinical medicine, genetics/genomics, biochemistry, chemical and electrical engineering, statistics and computational sciences.

We are seeking highly motivated individuals 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.

Students and postdoctoral researchers with an interest in medical genetics, genomics, technology development and computational and engineering approaches should send a description of their research interests and current CV to

Extensive Research Description

Complete List of Published Work in MyBibliography:

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Contact Info

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

New Haven, CT 06520-8005