Genetics and Metabolism Program

CENTER/INSTITUTE
Center for Human Genetics Laboratory

DIRECTORS

Director Anthony Wynshaw-Boris, MD, PhD, Chair Department of Genetics and Genome Sciences 216-368-0581

Associate DirectorAnna Mitchell, MD, PhD, General Genetics Section, Medical Director 216-844-3936

Associate DirectorJirair Bedoyan, MD, PhD, Metabolism Section 216-844-3936

 

Clinical Genetics Residency Program Director | Anna Mitchell, MD, PhD

Medical Biochemical Genetics Fellowship Director | Jirair Bedoyan, MD, PhD

Residency/Fellowship Program Coordinator | Cynthia Medves

 

MEMBERS
Abidemi Adegbola, MD
Jirair Bedoyan, MD, PhD
Atul Chopra, MD PhD
Suzanne DeBrosse, MD
Carlos Gallego, MD
Laura Konczal, MD
Anna Mitchell, MD, PhD
Aditi Parikh, MD
Lori-Anne Schillaci, MD
Anthony Wynshaw-Boris, MD PhD

GENETIC COUNSELORS
Sarah Aufmuth, MS
Lauren Bokovitz, MS
Leslie Cohen, PhD, MS
Sarah Grimes-Hodges, MS
Joanna Horn, MS
Michelle Merrill, MS
Larisa Rippel, MS
Christine Shuss, MS

RESEARCH COORDINATORS
Audrey Lynn, PhD
Genya Kisin

APPOINTMENT LINE
 216-844-3936, option 2 | Carrie Rosa or Dominique Richardson

Special Expertise in the Diagnosis and Management of:

  • The genetic basis of cancer
  • Inborn errors of metabolism and newborn screening disorders
  • Neurological and neurodevelopmental disorders caused by genetic defects
  • Undiagnosed diseases
  • Prader-Willi syndrome
  • Marfan syndrome and connective tissue disorders
  • Disorders of pyruvate metabolism including pyruvate dehydrogenase complex deficiencies

  • Mitochondrial diseases

Therapies

  • Enzyme replacement therapies
  • Small molecule- and vector-based therapies
  • Newest genetic and genomic diagnostic tools

Distinguishing Features

  • Largest team of metabolic specialists in Ohio
  • Cancer genetics services provided in coordination with UH Seidman Cancer Center and Case Comprehensive Cancer Center
  • Cutting-edge diagnostic and treatment technologies provided by leaders in the field
  • Personal attention to patient and family needs ("personalized medicine" that focuses on the person)
  • Largest clinical genetics team in Ohio with experts in all major areas of clinical genetics
  • Access to clinical trials (industry- and government-sponsored) of new therapies for genetic and metabolic disorders
  • The 8th ranked Genetics Department in the US based on NIH funding
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