Curt Scharfe, MD, PhD, FACMG
Associate Professor of GeneticsCards
About
Research
Overview
Medical Research Interests
Biotechnology; Cystic Fibrosis; DNA; DNA Virus Infections; Genetics, Population; Genomics; Heart Defects, Congenital; High-Throughput Nucleotide Sequencing; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Microarray Analysis; Mitochondrial Diseases; Molecular Diagnostic Techniques; Neonatal Screening; Prenatal Diagnosis; Proteomics
Academic Achievements & Community Involvement
News & Links
Media
- Metabolite levels were analyzed in babies at different age at blood collection (AaBC) timepoints ranging from 12-72 hours after birth. Metabolites were found to group into two clusters of either decreasing (on top, blue) or increasing (at bottom, red) levels after birth. Timing of blood collection could affect the performance of newborn screening for metabolic disorders (Peng G et al. Front Pediatr. 2021).
News
- October 17, 2022Source: Yale News
Metabolism, not genes, may offer more insight into risk of some diseases
- February 25, 2021
Strategies to accelerate diagnosis and treatment of rare cardiovascular diseases
- April 07, 2020
Insights & Outcomes: Cardiac lag times and chemistry that’s off the scale
- March 17, 2020Source: Validation of novel forensic DNA markers using multiplex microhaplotype sequencing
Validation of novel forensic DNA markers using multiplex microhaplotype sequencing