The Burden of Genetic Disorders in Infant Mortality - Project Summary/Abstract
Genetic disorders and congenital malformations, which may be genetic, are the leading cause
of infant mortality in the United States. However, we still do not fully understand which genetic
disorders are responsible for infant deaths and the full scope of their impact. This NIH K23
research proposal represents a multidisciplinary effort to gain further understanding into the
genetic contributions to infant mortality, leveraging the expertise that Dr. Wojcik has already
gained through her dual training in clinical genetics and in neonatal-perinatal medicine and
providing further training in genomic analysis, epidemiology and biostatistics, and clinical
research study design. Building off of Dr. Wojcik's prior research on the implications of genetic
diagnoses in the infant and neonatal period and her experience in exome analysis for novel
disease gene discovery, the objective of this study is to determine the prevalence of Mendelian
genetic disorders within a cohort of deceased infants (Aim 1) and to evaluate the public health
impact of these diagnoses using parental survey data (Aim 2) and data obtained from the
National Center for Health Statistics (Aim 3). Under the mentorship of internationally-recognized
experts in neonatology and genomic medicine (Pankaj Agrawal, MD, MSSc), human genetics
and rare disease gene discovery (Heidi Rehm, PhD), the ethical/legal/social implications of
clinical genetics (Ingrid Holm, MD, MPH) and in collaboration with experts in parental grief after
the loss of an infant (Richard Goldstein, MD), clinical genetics (Wen-Han Tann, MBBS),
perinatal mortality/epidemiology (Dominique Heinke, ScD), with additional research and career
mentoring from successful researchers in human genomics (Alan Beggs, PhD and Robert
Green, MD, MPH), Dr. Wojcik will strive to provide answers to bereaved families. Concurrently,
she will gain the training necessary to build her own career as an independent clinician-
researcher with a focus on the intersection of clinical genetics and neonatology towards a better
understanding of infant mortality and ultimately its prevention.
