University of Iowa Health Care Medical Center Molecular Genetic Pathology (Multidisciplinary) people

Program Director, Molecular Genetic Pathology Fellowship

Pathologist, Clinical Professor at Roy J. and Lucille A. Carver College of Medicine

Correlation between PTEN expression and KIT mutation in GIST, KIT mutation analysis in pediatric solitary mastocytoma

Associate Program Director, Molecular Genetic Pathology Fellowship

Pathologist, Clinical Professor at Roy J. and Lucille A. Carver College of Medicine

Therapeutic and diagnostic testing involving melanoma and oropharyngeal squamous cell carcinoma. Next generation sequencing and data analysis.

Alpa Sidhu, MBBS, PhD

Clinical Geneticist

Clinical genetics and genomics physician, Clinical Associate Professor at University of Iowa Health Care Medical Center

Tumor Predisposition Syndromes, Lysosomal Storage Disorders, Birth Defects

Amy Calhoun, MD

Clinical Geneticist

Clinical biochemical genetics physician, Clinical Professor at Roy J. and Lucille A. Carver College of Medicine

Wolf-Hirshhorn Syndrome, An Open Label of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under Two Years of Age with Urea Cycle Disorders

Benjamin Darbro, MD, PhD

Cytogenetics/Director

Pathologist, Professor at Roy J. and Lucille A. Carver College of Medicine

Edwin Stone, MD, PhD

Eye Disease Clinic/Director

Ophthalmologist, Seamans-Hauser Chair in Molecular Ophthalmology at University of Iowa Health Care Medical Center

Diagnosis, mechanistic understanding, and treatment of a wide variety of inherited retinal diseases, Molecular genetics of inherited eye disease

Hatem El-Shanti, MD

Molecular Genetics/Director

Clinical cytogenetics and genomics physician, Richard O. Jacobson Foundation Chair in Pediatrics at Roy J. and Lucille A. Carver College of Medicine

Genetics of childhood epilepsy, Mutation analysis of autoinflammatory disorder genes, in particular bone and skin inflammation, Genetics of Autism Spectrum Disorder and Intellectual Developmental Disorder, Gene mapping and positional cloning of human autosomal recessive disorders

James Howe, MD

Pathogenesis of Colon Cancer Syndromes

Surgeon, Professor of Surgery - Surgical Oncology and Endocrine Surgery at Roy J. and Lucille A. Carver College of Medicine

John Bernat, MD, PhD

Clinical Geneticist

Clinical genetics and genomics physician, Clinical Associate Professor of Pediatrics at Roy J. and Lucille A. Carver College of Medicine

Natural history of lysosomal disorders (e.g. Fabry disease, Gaucher disease, Pompe disease), Newborn screening for lysosomal disorders

Katherine Mathews, MD

Neuromuscular Clinic/Director

Neurologist, Professor of Pediatrics - Neurology at Roy J. and Lucille A. Carver College of Medicine

Kevin Campbell, PhD

Neuromuscular Disorders

Professor of Molecular Physiology and Biophysics at University of Iowa Health Care Medical Center

Richard J. Smith, MD

Hearing Loss Clinic/Director

Professor of Otolaryngology

Sarah Farran, MD, MPH

Current Molecular Genetic Pathology Fellows

Molecular Genetic Pathology (multidisciplinary) fellow, University of Iowa Health Care Medical Center

Steven Lentz, MD, PhD

Molecular Determinants of Blood Clotting

Hematologist, Professor at University of Iowa Health Care Medical Center

Steven Moore, MD, PhD

Neuromuscular Disease

Pathologist, Professor at Roy J. and Lucille A. Carver College of Medicine

Gliovascular dystrophin-glycoprotein complex, LARGEmyd mice, Dystroglycan Complexes in Cerebral Vascular Biology, Dystroglycan Complexes in Brain Development

Sue O’Dorisio, MD, PhD

Biology of Neuroblastomas

Oncologist

Val Sheffield, MD, PhD

Molecular Genetics

Medical genetics and genomics physician, Professor of Pediatrics at Roy J. and Lucille A. Carver College of Medicine

Treatment of human genetic diseases using iPS cells and genome editing, Molecular genetics of hypertension and obesity, Molecular biology of syndromic retinitis pigmentosa, Molecular biology of hereditary macular degeneration