Research Focus Areas
We focus specifically on developmental and congenital overt anatomical defects in neonates and young children for four major reasons:
1. Our studies have the potential to improve pre-symptomatic diagnosis early in life.
Prenatal or neonatal identification of anatomical defects is often a harbinger of broader systemic problems that can remain undetected until they become manifest later in life. This delayed diagnosis endangers patients’ lives and places an avoidable burden on families, their physicians, and the health care system. In some cases, treatment may be available with an early diagnosis.
Genetic lesions are more frequently associated with overt anatomical defects, thus use of genome technologies in this population is more likely to yield informative and/or actionable data, since, for most patients, familial evidence for genetic causality is often incomplete and underpowered. The potential benefit of genomic data is especially acute prenatally, when detailed clinical evaluation is not possible.
3. Developmental defects are amenable to functional testing in research models.
At present, the failure rate of interpreting the effect of alleles found in new patients can be as high as 30%, even for genes associated robustly with clinical phenotypes. This is in part because data derived from population frequencies, recurrence data, and computational predictions can be inadequate in the clinical setting. It is clear that, especially in a genome-wide context, robust, physiologically relevant functional assays for allele interpretation must be developed. A unique opportunity to develop such tests is offered by the rich knowledgebase in developmental systems and pathways and the rigorous evolutionary conservation of such pathways across many experimental model systems.
4. Families of affected children are amenable to participating in genetics research studies.
Our past experience shows that families of children with anatomical defects at birth are eager to participate in genetic research to understand the cause of their children’s congenital health problems. This engagement facilitates strong partnerships with patients and their families to conduct these studies and to understand impact of genetic studies on families’ medical choices and lives.
Read more About the Study