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Genetics Program Overview

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Who we are

The division of Genetics at Boston Children's Hospital diagnoses and treats children, adolescents and adults with known and suspected inherited diseases, especially congenital malformations and chromosomal disorders. Some patients who come to Children's have relatively common conditions, such as autism and sickle cell disease, while others have incredibly rare inherited diseases that affect only a few hundred children in the world.

Linking genes to autism

Researchers at Boston Children's have discovered a genetic defect linked to autism and can now test for the mutation. The test can help doctors diagnose and treat young children with autism and may allow early diagnosis during pregnancy. The defect is a deletion or duplication of a region on chromosome 16 and accounts for about 1 percent of all cases of autism. The discovery adds to a growing body of knowledge about the many links between specific genes and the risk of autism. This helps doctors to tailor treatment to a child's specific condition.

Gene database furthers personalized medicine

Boston Children's Hospital is creating a first-of-its-kind research repository to power tomorrow's personalized medicine. The repository will include DNA samples from children and their family members collected over time and linked to medical records, creating the richest longitudinal database of genetic and clinical pediatric information in the world. What makes this really different is that any relevant and actionable findings will be reported back the family via a secure, blinded email. Ultimately, the project could lead to early detection of conditions as well as the development of treatments and cures for many genetic disorders.

The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO