David T. Miller, MD, PhD
|Hospital Title||Clinical Geneticist and Medical Geneticist|
|Academic Title||Assistant Professor of Pediatrics|
300 Longwood Avenue
Boston, MA 02115
We are focused on improving patient care through genetic testing to facilitate better understanding of the molecular causes of genetic syndromes. Our areas of interest include: children with developmental disabilities, especially autism spectrum disorders; neurofibromatosis; and progeroid laminopathies.
In our clinics, we use chromosomal microarray testing #1 to uncover the underlying genetic changes associated with an increased susceptibility to autism. In a recent study involving the Children's Hospital Boston DNA Diagnostic Laboratory, we have shown that this test identifies three times as many genetic imbalances in autistic children than the existing test--the karyotype. We believe this test should be considered the "gold standard" for genetic diagnosis of children with autism.
16p. A region of chromosome 16 is found to be deleted in an autistic child by chromosomal microarray testing. Courtesy of Bai-Lin Wu, PhD, and Yiping Shen, MD, PhD
Our Neurofibromatosis Program, directed by Mira Irons, MD, is the largest in New England, with hundreds of patients cared for in our clinics every year. Through the efforts of Associate Director Nicole Ullrich, MD, PhD, we are participating in a number of multicenter clinical trials for treatment of complications related to neurofibromatosis. We are currently doing an observational study to establish genotype-phenotype correlations to better predict outcomes and better manage the clinical care of patients with this condition.
Research studies suggest that the premature aging syndrome progeria results from improper farnesylation of Lamin A. In an international clinical trial led by Mark Kieran MD, PhD, of Children's and the Dana-Farber Cancer Institute, we are determining whether or not a series of medications, including farnesylation inhibitors, bisphosphonates and a statin drug, slow down the unnatural aging process in children suffering from this disease.
To read more about our progeria trials, click here.
About David Miller
David T. Miller, MD, PhD, is a medical geneticist and clinical molecular geneticist at Children's Hospital Boston, and an Assistant Professor of Pediatrics at Harvard Medical School. He received his MD/PhD degree from Washington University in St. Louis. He completed a residency in Pediatrics at Yale-New Haven Hospital, and a residency/fellowship in medical genetics at Harvard Medical School. He is board-certified in Pediatrics, Clinical Genetics and Clinical Molecular Genetics.
Miller DT et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010 May 14; 86(5):749-64.
Shen Y et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010 Apr; 125(4):e727-35.
- Weiss LA et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Me. 2008 Feb 14; 358(7):667-75.