Research Faculty

Ingrid Holm, MD, MPH

Department Genetics and Endocrinology
Hospital Title Director of the Phenotype Core of the Program in Genomics
Academic Title Assistant Professor of Pediatrics
Phone 617-919-2338
Fax 617-730-0245
Email Ingrid Holm
Location 300 Longwood Avenue
CLS 15022
Boston, MA 02115

Research Overview

My group is interested in studying genetics of complex diseases in children.

Sudden Infant Death Syndrome (SIDS)
and Sudden Unexplained Death in Childhood (SUDC)
SIDS, the sudden and unexpected death of an apparently healthy infant during sleep, is the leading cause of death for U.S. infants over one month of age. SUDC is the sudden, unexpected and unexplained death of a child over the age of 12 months. Working with Hannah Kinney's group in the Department of Pathology, we are interested in unraveling the genetic contributions to both of these disorders. We hope to uncover the genetic aspects of SIDS through a large international study, and we are pursuing our own research project to understand the genetic aspects SUDC.

Autism
Autism is a complex neurodevelopmental disorder that is characterized by social detachment and repetitive behaviors and affects approximately 1 in 150 children. We are part of a large group at Children's Hospital Boston studying autism, which is interested in the genetic contributions to the disease.

The Gene Partnership
In collaboration with Louis Kunkel, PhD, Isaac Kohane, MD, PhD, and Kenneth Mandl, MD, MPH, we have initiated a large study of the genetics of childhood diseases, with the goal of building an extensive database of genetic and phenotypic information for genetic studies. DNA will be collected from participants and family members, and clinical information will be obtained longitudinally from hospital medical records, providing a rich source of genetic and clinical data from a large cohort of children with a variety of conditions followed at Children's Hospital Boston. A unique aspect of this protocol is that research results will be given back to participants through their Personally-Controlled Health Record. My particular area of interest is in how returning research results impacts on participating parents and children. I am the principal investigator of an NIH-funded study this is monitoring this impact through focus groups and surveys.

About Ingrid Holm

Ingrid Holm is director of the Phenotyping Core of the Program in Genomics at Children's Hospital Boston and an Assistant Professor of Pediatrics at Harvard Medical School. She received her MD from the University of California, Los Angeles. She completed an internship and residency in pediatrics, and post-graduate fellowships in genetics and pediatric endocrinology, at Children's Hospital Boston. In 2003, she completed the Harvard Pediatric Health Services Research Fellowship, and received her MPH in Clinical Effectiveness at the Harvard School of Public Health. She is a member of the Institutional Review Board (IRB) at Children's, where she helps review protocols for genetics studies with human subjects, and also chairs the Executive Biorepository Committee at Children's Hospital Boston. She has been elected to the Society for Pediatric Research, and as Fellow in the American College of Medical Genetics.

Holm started her research career in the laboratory of Louis Kunkel, PhD, studying the genetic basis of X-linked hypophosphatemic rickets. After obtaining her MPH, she became interested in the genetics of complex traits. As director of the Phenotyping Core, she draws on her combined basic and clinical research expertise to serve as liaison between the clinicians and basic scientists. She has worked with researchers to develop clinical genetic research projects in diabetes, autism, congenital heart disease, hip dysplasia and atopic dermatitis. Holm also continues her clinic practice in genetics and endocrinology focusing on genetic disorders of bone in children.

Key Publications

  • Shen Y et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010 Apr; 125(4):e727-35.
     
  • Broadbelt KG et al. Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res 2009 Dec; 66(6):631-5.
     
  • Kohane IS et al. Medicine. Reestablishing the researcher-patient compact. Science 2007; 316(5826):836-7.
     
  • Holm IA et al. Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. Arch Intern Med 2005;165:1606-11.
     
  • Holm IA et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001; 86:3889-99.

For a complete list of Dr. Holm's publications in PubMed, click here.