Who we are
The Division of Genetics at Boston Children's Hospital offers state-of-the-art diagnostic and clinical management for children, adolescents, and adults with genetic conditions, including inborn errors of metabolism.
Patients are evaluated by a multi-disciplinary team of physicians, nurses and counselors who specialize in genetics, syndrome identification, metabolic disease, and birth defects.
In order for your child to receive the most comprehensive and coordinated care, our staff works closely with other medical and surgical specialists here at Boston Children's Hospital.
In the Spotlight
A new test for Chromosome 16 deletion/duplication abnormality in children with autism is now available through the Divisions of Genetics, Neurology and Developmental Medicine.
Kim Stiles has to weigh and measure her 3-year-old son's foods every day to ensure he doesn't get too much of the amino acid phenylalanine, or "phe."
- Dr. Joan Stoler joins the Genetics Division from Massachusetts General Hospital. Dr. Stoler specializes in craniofacial disorders as well as connective tissue disorders.
- The Neurofibromatosis Program is expanding to Waltham. Dr. David Miller and Danielle Cataldo, NP, are now seeing patients in the NF Program at our Waltham satellite clinic.
- The Genetics Program has expanded to Norwood. Dr. David Miller is seeing patients at our Norwood satellite clinic.
Discover: Division of Genetics
A study led by Christopher Walsh, MD, PhD, chief of Genetics, studied 88 large Middle Eastern families with a high incidence of autism due to marriages between cousins (increasing the likelihood of rare inherited mutations). It found a half-dozen new genes that could be related to autism.
Conditions & Treatments
- Angelman syndrome
- Birth defects and congenital anomalies
- Brain Development and Genetics (BrDG) Clinic
- Brain SPECT
- First trimester of pregnancy
- Fragile X syndrome
- Kabuki syndrome
- Leber's optic atrophy
- Lysosomal Storage Program
- Multifactorial inheritance
- Neurocutaneous syndromes
- Newborn screening tests
- Teratogens: Identifying
- Trisomy 18 and 13
- When to seek genetic counseling
- Biochemical genetic testing
- Blood types
- Brain PET
- Brain anatomy
- Fragile X Program
- Genetics Program
- Large for gestational age babies
- Loeys-Dietz syndrome
- Metabolism Program
- Multidisciplinary Neurofibromatosis Program
- Myelodysplastic syndrome
- Neurofibromatosis type 1 (NF1)
- Non-teratogenic agents
- Trisomies and Monosomies
- Turner syndrome
- X-Linked agammaglobulinemia