Genetics Program Research and Innovation

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Our team works closely with Boston Children's researchers who are devoted to the study of genes that underlie inherited disorders and to finding new treatments and cures.

  • Clinical trials are underway to test a drug developed at Boston Children's to treat phenylketonuria, a disorder in which the body can't break down certain proteins.

  • Boston Children's Manton Center is the world's only center studying "orphan" diseases — those affecting fewer than 200,000 people, mostly children, in the United States.

  • Researchers have found several genes linked to appetite and weight, paving the way for possible ways to prevent and treat obesity.

The General Genetics Program works closely with the Genetics Division's research laboratories, headed by Dr. Louis Kunkel. These laboratories are devoted to the study of genes that underlie inherited disorders and the function of their encoded proteins. This relationship between the General Genetics Program and the laboratories facilitates 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 Nemaline 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. Engel), ancient conserved sequence motifs (Dr. Bruns) and disorders of cholesterol metabolism (Dr. Irons).

More information on our researchers and their research studies can be found below.

Latest Research in Genetics

Researcher

Focus Area

Alan Beggs, PhD

Genetics of neuromuscular disease

Gail Bruns, MD, PhD

WAGR Syndrome

Elizabeth Engle, MD

Congenital eye movement disorders

Emanuela Gussoni, PhD

Muscular dystrophy

Joel Hirschhorn, MD, PhD

Endocrine genetics

Ingrid Holm, MD, MPH

Endocrine genetics

Mira Irons, MD

Smith-Lemli-Opitz syndrome; Neurofibromatosis Type1

Louis Kunkel, PhD

Muscular dystrophy

Harvey Levy, MD

Biochemical disorders; Phenylketonuria (PKU)

Jonathan Picker, MBChB, MSC, PhD

Neurobiology of behavioral disorders; Fragile X syndrome

Christopher Walsh, MD

Development and function of the human cerebral cortex

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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.”
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