研究人员|Research Overview
Dr. Holm’s research focuses on the ELSI issue in genomics research in a pediatric setting. She was PI of two NIH-funded grants, one as part of the NHGRI CSER (Clinical Sequencing Exploratory Research) consortium, to study the impact of returning genomic research results to parents and children. Dr. Holm’s related research focus is on diagnosing rare genetic diseases.
实验室项目
- babyseq:该项目Genome Sequence-Based Screening for Childhood Risk and Newborn Illness， 也被称为babyseq, is a randomized trial of infants and their parents from the Newborn Nursery and the Neonatal Intensive Care Unit. Dr. Holm and Dr. Amy McGuire (Baylor College of Medicine) are the co-PIs of the ELSI arm of the project, which examines the clinical outcomes, benefits, and harms of providing genomic sequencing information to parents and medical providers.
- Undiagnosed Diseases Network (UDN):UDN的目的是了解避免诊断的疾病。Holm博士监督基于HMS的协调中心的患者参与和IRB活动。霍尔姆博士还是哈佛大学的医院UDN临床部位的共同评估者。
- The Electronic Medical Records and Genomics (eMERGE) Network:In eMERGE II Dr. Holm was co-PI with Dr. John Harley at Cincinnati Children’s Hospital Medical Center of a joint site. She co-led the “Consent, Education, Regulation & Consultation” (CERC) work group, which explores the ELSI issues. In eMERGE III she co-chairs the Return of Results/ELSI work group and continues to co-led the CERC supplement on patient perspectives on broad consent and data sharing in biobanks.
- Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death in Childhood (SUDC):霍尔姆博士与汉娜·金尼（Hannah Kinney）博士的小组合作，有兴趣揭开这两种疾病的遗传贡献。她是通行证研究中的共同评估者，这是一项大型国际小溪研究，并领导了遗传研究。
研究人员|Research Background
Dr. Holm obtained her MD at the University of California, Los Angeles and completed her pediatric residency and dual fellowship in Pediatric Endocrinology and Medical Genetics at Boston Children's Hospital (BCH) where she studied the gene defective in X-linked hypophosphatemic rickets (HYP). She completed the Harvard Pediatric Health Services Research Fellowship and received her M.P.H. at the Harvard School of Public Health. She directed the Phenotype Core of the Program in Genomics from 2003-2013, which led to her interests in the ethical, legal, and social implications (ELSI) of genomics research. She is Associate Professor of Pediatrics at HMS.
选定的出版物
- Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Medicine. Reestablishing the researcher-patient compact. Science. 2007;316(5826):836-7.
- Harris, ED, Ziniel, SI, Amatruda, JG, Clinton, CM, Savage, SK, Taylor, PL, Huntington, NL, Green, RC, Holm, IA. The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. Genetics in Medicine 2012 Mar;14(3):330-7.
- Holm, IA, Poduri, A, Crandall, L, Chadwick, A, Grafe, MR, Kinney, HC, Krous, HF. Inheritance of Febrile Seizures in Sudden Unexplained Death in Toddlers. Pediatr Neurol. 2012 Apr;46(4):235-9.
- Ziniel SI, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA. Parents' Preferences for Return of Results in Pediatric Genomic Research. Public Health Genomics. 2014;17(2):105-14.
- Holm IA, Iles BR, Ziniel SI, Bacon PL, Savage SK, Christensen KD, Weitzman ER, Green RC, Huntington NL. Participant satisfaction with a preference-setting tool for the return of individual research results in pediatric genomic research. J Empir Res Hum Res Ethics. 2015 Oct;10(4):414- 26. PMID: 26376753.