Genetics

The Division of Medical Genetics at Children’s Hospital of Pittsburgh of UPMC is committed to the treatment and study of genetic disorders in children, providing advanced patient care of the highest quality and an active research program dedicated to providing a deeper understanding of the fundamental issues underlying these disorders and developing better therapeutic approaches.

Clinical services, a critical part of the comprehensive care offered by the Division of Medical Genetics, include diagnosis, evaluation, treatment and management of a range of genetic conditions, such as birth defects, chromosomal abnormalities, specific genetic syndromes and inborn errors of metabolism. These services are organized under two programs: an Inborn Errors of Metabolism Clinic and a General Genetics Clinic. Both offer an experienced team of faculty and staff, including physician geneticists, genetic counselors, a nurse practitioner, metabolic dietitian and social worker.

Inborn Errors of Metabolism Clinic

The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment management, genetic counseling and other support to children with these inherited disorders and to their families. A Phenylketonuria Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.

General Genetics Clinic

The General Genetic Clinic provides diagnostic evaluations, appropriate treatment, follow up and support for children with known or suspected genetic disorders that fall outside the scope of the division’s Inborn Errors of Metabolism Clinic.

Counseling, education and other support services to address all of the needs of patients and their families are also provided. Genetic counselors are available to help to identify families at risk, serve as patient advocates, help families understand genetic disorders and their consequences, provide supportive counseling and counsel families who may be at risk for inherited conditions. Division staff members also help families arrange for physical, occupational and speech therapists, comprehensive developmental assessments and other services and support.

Research within the division is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.

Referral Requirements

Referrals from primary care physicians, medical and social agencies or other Children’s Hospital specialty services are helpful, but not necessary. Authorization from the patient’s insurance provider and/or primary care physician may be needed for insurance coverage. The Division of Medical Genetics staff can help with these matters. Medical records from previous medical evaluations may be requested. For more information, please call the office number listed.

Doctors

Locations

Clinical Studies

  • Genetics

    Children's Hospital of Pittsburgh of UPMC
    4401 Penn Avenue
    Floor 3
    Floor 3, PA 15224
    412-692-5070
  • Specialty Care Center Erie - Telegenetics

    Shriner's Hospital
    1645 W. 8th St.
    Erie, PA 16505
    814-875-8700
  • Amish and Mennonite Research Registry

    Research Contact Registry for Members of the Amish and Mennonite Communities

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    Energy Metabolism Disorder Therapy Using Triheptanoin (C7)

    Dietary Therapy for Inherited Disorders of Energy Metabolism

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    Enzyme Deficiency Study

    Laboratory Study of Acyl-CoA Dehydrogenases

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    Fabry Disease Long-Term Treatment with Migalastat – Phase III

    Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease

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    Gaucher Disease Enzyme Replacement Therapy Registry

    Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

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    Genetic Disorder Discovery Through DNA Sequencing

    Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders

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    Genetic Disorder Identification in Amish and Mennonite Communities

    Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

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    Hyperammonemia Treatment With Carbaglu - Phase II

    Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

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    Hypophosphatasia (HPP) Registry

    Long-term Registry of Patients with Hypophosphatasia

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    Inborn Errors of Metabolism Registry

    Inborn Errors of Metabolism Information System (IBEM-IS)

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    Long-Chain Fatty Acid Oxidation Disorder Therapy With Triheptanoin (C7) - Phase II

    Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies

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    Methylsterol Oxidase Deficiency Study

    Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency

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    MPS I (Hurler, Hurler-Scheie, Scheie) Long-term Treatment with AGT-181 – Phase I

    Evaluating Safety and Glycosaminoglycans in Adult Patients with Hurler-Scheie or Scheie Syndrome who have Completed 8-Weeks of Dosing with AGT-181 in Study AGT-181-102

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    MPS I (Hurler, Hurler-Scheie, Scheie) Treatment with AGT-181– Phase I

    Study of a Human Insulin Receptor Monoclonal Antibody-Human alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients with Mucopolysaccharidosis Type I

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    MPS II (Hunter Syndrome) Treatment with AGT-182 – Phase I

    Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients with Mucopolysaccharidosis Type II

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    MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/II

    Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment

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    MPS IVA (Morquio) Registry: The MARS Study

    Morquio A Registry Study (MARS)

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    MPS VI (Maroteaux-Lamy Syndrome) Registry

    Mucopolysaccharidosis Type VI Clinical Surveillance Program

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    PKU Extended Treatment with rAvPAL-PEG – Phase II

    Long-Term Extension of a Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with Phenylketonuria (PAL-003)

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    PKU Treatment with BMN 165 (rAvPAL-PEG) – Phase III

    Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self Administered by Adults With Phenylketonuria

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    Urea Cycle Disorder Treatment With Ravicti® - Phase IV

    Study of Glycerol Phenylbutyrate (GPB; Ravicti®) in Children Under 2 Years of Age with Urea Cycle Disorders

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    Urea Cycle Disorder Registry: The THRIVE Study

    Long-Term Registry of Patients With Urea Cycle Disorders

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