Genetics and Metabolism Program

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CENTER/INSTITUTE

Center for Human Genetics Laboratory

DIRECTOR
Aditi Parikh, MD
216-844-3936

KEY CONTACTS
Jirair Bedoyan, MD, PhD; Suzanne DeBrosse, MD; Laura L. Konczal, MD; Anna Mitchell, MD, PhD; Goutham Narla, MD, PhD; Anthony Wynshaw-Boris, MD, PhD; Arthur Zinn, MD, PhD

PROGRAM COORDINATOR
Genya Kisin

APPOINTMENT LINE
Please call Ebony Drewery at 216-844-3936, option 2.
For hospital transfers, please call 216-844-1111.

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
  • Mitochondrial diseases

    Therapies
  • Enzyme replacement 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
  • Leading-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 of new therapies for genetic disorder