UPMC Medical Education Medical Genetics and Genomics

Assistant Program Director for the UPMC Medical Genetics and Genomic Training Program

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Assistant Program Director, Medical Genetics Fellowship

Clinical cytogenetics physician, Associate Professor of Pediatrics at UPMC Medical Education

Implementation of whole exome and whole genome sequencing into clinical practice (multiple collaborators), Psychiatric manifestations of Chromosome 22q deletion syndrome (collaborator Maria Jalbrzikowski), Disorders of sterol metabolism national collaborative group: Site Investigator

Program Director, Clinical Genetics and Genomics Residency

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at UPMC Medical Education

Lysosomal storage disorders, Registry, Rare disease, Genetic disorder

Chief, Division of Genetic and Genomic Medicine

Clinical biochemical/molecular genetics physician, Division Director at Univ of Pittsburgh Sch of Med

Fatty Acid Oxidation, Inborn Errors of Metabolism, Genomic Medicine, Newborn Screening

Research Professor of Pediatrics

Research Professor at Univ of Pittsburgh Sch of Med

Therapies for disorders of mitochondrial fatty acids b-oxidation; related to my R21 grant above, Therapies for disorders of branched chain amino acids, Shutting down FAO as a new therapeutic strategy for cancer and infectious diseases, Inhibitor based chaperone therapy for metabolic disorders including galactosemia and PKU

Associate Professor of Pediatrics

Pediatrician, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Drosophila, Relationship between reproduction and aging, Aging, Reproduction

Assistant Professor of Pediatrics

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at UPMC Medical Education

Telegenetics, Telemedicine

Distinguished Professor and F. Sargent Cheever Chair of Developmental Biology

Distinguished Professor and F. Sargent Cheever Chair of Developmental Biology at Univ of Pittsburgh Sch of Med

Cardiac development and congenital heart diseases, Congenital heart disease, Genetics, Genomics

Associate Professor of Pediatrics

Pediatric medicine physician, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Research Assistant Professor

Emergency Medicine resident, Mayo Clinic College of Medicine and Science

Professor of Pediatrics

Pediatrician, Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Role of Brown Fat in the Pathogenesis of Fatty Acid Oxidation Disorders, Regulation of Fatty Acid Oxidation in Adipose Tissues, Regulation of Fatty Acid Oxidation by Reversible Lysine Acetylation, Metabolism

Assistant Professor of Pediatrics

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at UPMC Medical Education

Associate Professor of Pediatrics

Clinical biochemical genetics physician, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Assistant Professor of Pediatrics

Clinical genetics and genomics physician, Assistant Professor of Pediatrics and Medical Genetics at UPMC Medical Education

K08HG010490, Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General Population, 2019-2024., Samuel and Emma Winters Foundation, Identification and characterization of TANGO2 protein and its interactions with other proteins, 2023-2024., 1R01HL161045-01A1, The methyltransferase Smyd1 regulates cardiac physiology, 2023-2025., Genetics

Associate Professor of Pediatrics

Cardiologist, Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Heart failure signaling

Assistant Professor

Family physician, Assistant Professor at Univ of Pittsburgh Sch of Med

Genetics, Genomics, Precision Medicine, Pharmacogenomics

Professor of Pediatrics

Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Prader-Willi Syndrome, Gene therapy, Genome editing, Pancreatice beta-cell model

PGY-5

Medical genetics / clinical genetics (m.d.) physician

Research Assistant Professor

Research Assistant Professor at Univ of Pittsburgh Sch of Med

CFTR, Protein Misfolding, CRISPR-CAS, Auophagy

Professor of Pediatrics

Clinical biochemical genetics physician, Professor of Pediatrics at UPMC Medical Education

The pathophysiology of the brain damage caused by inborn errors of metabolism and, neuroprotective treatments that can prevent that damage, The cause of ADD/ADHD in inborn errors of metabolism, The cause of renal failure in patients with renal Fanconi syndrome

Research Associate Professor of Pediatrics

Research Associate Professor of Pediatrics at Univ of Pittsburgh Sch of Med

Fatty Acid Oxidation, Mitochondrial disorders, Fatty Acid oxidation disorders, Mitochondria