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 Director | Anna Mitchell, MD, PhD, General Genetics Section, Medical Director 216-844-3936
Clinical Genetics Residency Program Director | Anna Mitchell, MD, PhD
Residency/Fellowship Program Coordinator | Cynthia Medves
MEMBERS
Abidemi Adegbola, MD
Atul Chopra, MD PhD
Suzanne DeBrosse, MD
Laura Konczal, MD
Anna Mitchell, MD, PhD
Aditi Parikh, 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