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Genetics Program

The Genetics Program at MassGeneral Hospital for Children specializes in the evaluation and care of patients who may have health problems with a genetic or metabolic basis.

To schedule an appointment with a geneticist, please call 617-726-1561

Overview

The Genetics Program specializes in the evaluation and care of patients who may have health problems with a genetic or metabolic basis. These conditions can include the care of a newborn baby with a birth defect, a newborn with a metabolic condition detected by newborn screening, an older child with a developmental problem, a pregnant woman carrying a baby with a birth defect and suspected genetic condition, and an adult with a family history of an adult-onset genetic condition.

Comprehensive Range of Services

Our staff includes physicians board-certified in clinical genetics and trained in metabolism with extensive experience treating the comprehensive range of genetic conditions, including:

  • Achondroplasia and other skeletal dyplasias
  • Alagille syndrome
  • Albinism
  • Angelman syndrome
  • Autism spectrum disorders
  • Beckwith Wiedemann syndrome
  • Bardet-Biedl syndrome
  • Charcot Marie Tooth disease
  • Chromosomal disorders such as Klinefelter syndrome,Turner syndrome, trisomy 18, trisomy 13, cri du chat syndrome and other chromosome deletion syndromes
  • Cleft lip and palate disorders
  • Cornelia de Lange syndrome
  • Costello syndrome
  • Down Syndrome
  • Ectodermal dysplasia
  • Ehlers Danlos syndrome
  • Fetal alcohol syndrome
  • Fragile X Syndrome
  • Hemochromatosis
  • Inherited hearing loss conditions
  • Kabuki syndrome
  • Lysosomal storage disorders
  • Marfan syndrome
  • Metabolic disorders
  • Myhre Syndrome
  • Myotonic Dystrophy
  • Neurofibromatosis
  • Noonan syndrome
  • Osteogenesis imperfecta
  • Pitt Hopkins Syndrome
  • Prader Willi Syndrome
  • Stickler syndrome
  • Turner Syndrome
  • Velocardiofacial syndrome
  • Williams Syndrome

Our clinical team of physicians, genetic counselors, postgraduate physicians in training, social workers and a dietician provides families with diagnosis, treatment, genetic counseling and follow-up care in a supportive environment. Our state-of-the-art genetics laboratories and participation in current research ensures our patients the latest testing and treatment options.

Genetic disorders are chronic and in some cases life-threatening. In addition to the diagnosed child, family members may be affected and diagnosis may influence parents’ decisions regarding subsequent pregnancies.

We are equipped to treat the whole family, from diagnosis to counseling and follow-up care. We have specialists who are trained in the diagnosis, genetic counseling and care of the genetic conditions specific to each stage of life.

As part of Massachusetts General Hospital, we are an integral part of a world-renowned academic medical center and we collaborate with specialty units throughout the hospital to ensure the best care for our patients.

About this Program

Programs

We know that the time of your child’s diagnosis and illness is a very stressful one and we strive to provide an open, welcoming environment. We have a friendly, welcoming environment and staff dedicated to making children and their families feel at ease. We believe that no one knows a child as well as the parent does: parents, along with primary care providers, become our partners in a child's care and have an active voice in all treatment plans.

Doctors

  • Florez, Jose C., MD, PhD

    617-726-8722

    Not Accepting New Patients

    Clinical Interests
    • Diabetes management
    • Down syndrome
    • Endocrinology
    Board Certifications
    • Endocrinology, Diabetes & Metabolism, American Board of Internal Medicine
    Locations
    • Boston: Diabetes Unit
    • Boston: Down Syndrome Clinic
  • Goldenberg, Paula C., MD

    617-726-1561

    Accepting New Patients

    Clinical Interests
    • Laryngeal Surgery
    • DiGeorge Syndrome
    • Velo-Cardio-Facial Syndrome (VCFS)
    • Prenatal Testing and Diagnosis
    • Stickler/Marshall Syndrome
    Board Certifications
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    • Pediatrics, American Board of Pediatrics
    Locations
    • Boston: Pediatric Genetics
  • High, Frances A., MD, PhD

    617-726-1561

    Accepting New Patients

    Clinical Interests
    • Genetic basis for birth defects and inherited syndromes
    • Diaphragmatic hernia
    • medical genetics
    • Causes of malformations
    • Genetic syndromes
    • Developmental disorders
    • Autism spectrum disorders
    • Genetic testing
    Board Certifications
    • Pediatrics, American Board of Pediatrics
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    Locations
    • Boston: Pediatric Genetics
  • Holmes, Lewis Ball, MD

    617-726-1742

    Not Accepting New Patients

    Clinical Interests
    • Epidemiology of malformations
    • Hereditary malformations
    • Teratogens
    • Causes of malformations
    • Prenatal Testing and Diagnosis
    • Birth defects
    Board Certifications
    • Pediatrics, American Board of Pediatrics
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    Locations
    • Boston: Massachusetts General Hospital
  • Karaa, Amel, MD

    617-726-1561

    Accepting New Patients

    Board Certifications
    • Internal Medicine, American Board of Internal Medicine
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    Locations
    • Boston: Pediatric Genetics
    • Danvers: Mass General/North Shore Center for Outpatient Care
  • Lin, Angela E., MD

    617-726-1561

    Accepting New Patients

    Clinical Interests
    • Dysmorphology and syndrome delineation
    • Turner's syndrome
    • Hereditary Hemorrhagic Telangiectasia (HHT)
    • Branchio-oculo-facial syndrome (BOFS)
    • Rasopathies: Costello, CFC & Noonan Syndromes
    • CHARGE syndrome
    • Genetic Support Groups
    • Heterotaxy
    • Cardiogenetics
    • Myhre syndrome
    Board Certifications
    • Pediatrics, American Board of Pediatrics
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    Locations
    • Boston: Medical Genetics Unit/MGHfC
  • Pober, Barbara Rose, MD

    617-726-1561

    Accepting New Patients

    Clinical Interests
    • Williams syndrome
    • Diaphragmatic hernia
    • Birth defects
    • Hereditary malformations
    Board Certifications
    • Clinical Cytogenetic, American Board of Medical Genetics
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    • Pediatrics, American Board of Internal Medicine
    Locations
    • Boston: Pediatric Genetics
  • Sahai, Inderneel, MD

    617-726-1561

    Accepting New Patients

    Locations
    • Boston: Pediatric Genetics
  • Schwartz, Alison T., MD

    617-394-7500

    Accepting New Patients

    Clinical Interests
    • Down syndrome
    • Transition of youth with special health care needs
    • General pediatrics
    • Adult primary care medicine
    • Adolescent medicine
    Board Certifications
    • Pediatrics, American Board of Pediatrics
    • Internal Medicine, American Board of Internal Medicine
    Locations
    • Everett: MGH Everett Family Care
    • Boston: Down Syndrome Clinic
  • Skotko, Brian G., MD, MPP

    617-726-1561

    Accepting New Patients

    Clinical Interests
    • Down syndrome
    • Trisomy 21
    • intellectual disabilities in children
    • medical genetics
    • Developmental delays
    Board Certifications
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    Locations
    • Boston: Pediatric Genetics
  • Sweetser, David Alan, MD

    617-726-2737

    Accepting New Patients

    Clinical Interests
    • medical genetics
    • Biochemical genetics
    • Genetic basis for birth defects and inherited syndromes
    • Pediatric oncology
    • Hematologic malignancies
    • Inherited syndromes
    • Pitt Hopkins syndrome
    • Hematopoiesis
    • Birth defects
    • Hereditary malformations
    • Inherited cancer predispositions
    Board Certifications
    • Clinical Biochemical Genetics, American Board of Medical Genetics
    • Clinical Genetics (M.D.), American Board of Medical Genetics
    • Pediatric Hematology-Oncology, American Board of Pediatrics
    Locations
    • Boston: Pediatric Hematology-Oncology
    • Boston: Medical Genetics Clinic
    • Danvers: Mass General/North Shore Center for Outpatient Care

Other Providers

Patient Resources

News

  • MGHfC Recognizes Employees' Years of Service at 72nd Annual Ether Day - 10/25/2017, Mass General

    Ether Day, a tradition started in 1945, is a day to recognize MGHfC and Mass General staff for their years of service to patients and the hospital's overall mission. Learn more about what MGHfC means to some of those providers and staff.

  • Finding a medical home away from home with a rare disease diagnosis: Anna's story - 8/11/2017, Mass General

    At 16, Anna Young was diagnosed with Myhre Syndrome, a very rare genetic condition. Since coming to the Myhre Syndrome Clinic at MGHfC, she has found her place in the world and learned the skills to thrive as a young adult.

  • Patient ambassador is a guiding light for the Myhre Syndrome Clinic - 8/11/2017, Mass General

    April Lanord's son, Alec Bruneau, was considered a medical mystery until he received a diagnosis of Myhre Syndrome, a very rare genetic condition, during childhood. Since coming to the Myhre Syndrome Clinic, Alec has found a new sense of confidence and comfort in who he is. April was also inspired to become an ambassador for the clinic, helping other families get oriented to Boston and MGHfC.

Contact

Contact Us

MGHfC Genetics Program

Yawkey Center for Outpatient Care

Suite 6C55 Fruit Street Boston, MA 02114
  • Near Public Transit
  • Accessible
  • Phone: 617-726-1561
  • Fax: 617-726-1566

  • To make appointments, call 617-726-1561, fax 617-726-1566
  • In case of a medical emergency, dial 911; for urgent questions page our fellow at 617-726-2000 pager 3-6582

To schedule an appointment with a geneticist, please call 617-726-1561

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