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
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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