Division of Genetics Research and Innovation

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In addition to the Clinical Genetics Program, Boston Children's Division of Genetics includes research laboratories devoted to the study of genes that underlie inherited disorders and the function of their encoded proteins. The Clinical Genetics Program and the laboratories are closely interrelated, facilitating the rapid transition of progress in the laboratory to clinical applications.

The research program of the Division has been very productive, starting with the early cytogenetic work of Drs. Park S. Gerald and Samuel A. Latt, followed by the landmark somatic cell hybrid work of Dr. Gail Bruns and the specific phage libraries of Dr. Latt. Both of these efforts were part of the foundations of the Human Genome Project and led to the later positional cloning success of the Division. These successes included isolating the gene for Duchenne Muscular Dystrophy, Aniridia/Wilms Tumor, two forms of Limb Girdle Muscular Dystrophy, Angelman syndrome, and a form of Nemiline Myopathy, just to name a few.

Recent work has centered on:

  • The genetics of extreme longevity (Dr. Kunkel)
  • The pathogenesis of muscular dystrophies and myoptathies (Drs. Beggs and Kunkel)
  • Stem cell therapy of genetic diseases (Drs. Gussoni and Kunkel)
  • Cranial nerve involvement in eye muscle disorders (Dr. Engle)
  • Ancient conserved sequence motifs (Dr. Bruns)
  • Disorders of cholesterol metabolism (Dr. Irons)

Autism Testing


Autism 16p11.2 Deletion/Duplication

The chromosomal region 16p11.2 is strongly associated with autism and other forms of cognitive impairment when missing or extra material is detected (this new discovery has been published online by The New England Journal of Medicine on January 9, 2008). A specific test targeting this region is now available at Boston Children's Hospital.

The test is called Autism 16p11.2 Deletion/Duplication. It can be ordered by referring physicians via the Autism 16p11.2 Deletion/Duplication Requisition Form, which can be requested via email

For more information and questions, please email Ann Reinhard, MS, CGC, genetic counselor, or call 617-355-4907

What is autism 16p11.2 deletion/duplication?

  • This test is MLPA based focusing specifically on missing or extra material in the 16p11.2 chromosomal region.

  • This chromosomal region has been reported in The New England Journal of Medicine as being associated with autism and may also be associated with other cognitive impairments.

What are the possible results?


  • No missing or extra chromosome material was detected in the 16p11.2 region.

  • A normal result does not exclude other diagnostic possibilities such as other genetic conditions or chromosome abnormalities.


  • Missing or extra chromosome material at 16p11.2 was detected.

What are the potential benefits of doing the test?

  • It may allow early diagnosis and therapeutic intervention for young children with autism.

  • It may help define the risk of autism in future pregnancies

How long until results will be available?

Results are typically available in 2-3 weeks.

Where can a child be evaluated for this 16p11.2 deletion/duplication?

Patients can be referred for genetic counseling through the Genetics Program (617-355-4697), and for a comprehensive evaluation for autism and/or other cognitive issues through the Developmental Medicine Center (617-355-7971) or Neurology (617-355-6388) at Boston Children's Hospital.


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