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Delfina Gonzalez loading DNA for gel electrophoresis. Photo by Robert Lisak.

Birth defects are now the major cause of infant death in the US and Europe. Despite their tremendous impact, we know very little about the causes of most birth defects. Prior research has focused on environmental causes, especially nutrition (such as folate). However, recent evidence indicates that genetics is important too. Our goal is to analyze the gene sequences (“exome”) of birth defect patients in order to find a gene that might explain their disease. Deciphering the genes that cause birth defects is particularly difficult, however. In order to tackle this problem, we combine patient driven gene discovery with developmental mechanism discovery in disease model systems, especially the frog model, Xenopus. This model organism is particularly well-suited for studying birth defect genes because experiments are fast and easy to perform, and as a tetrapod, Xenopus has many similarities to human development. Once we have identified a candidate gene from our patient, we test it in frog to see if it also causes a similar phenotype. If it does, then we try to understand the underlying developmental mechanisms. We try to figure out “how” the gene directs embryonic development.

Helen Rankin, Xenopus Cold Spring Harbor Course
Nikon A1R confocal
Neurotubulin-GFP transtenic, phalloidin, DAPI
1ᵒ antibody: 3A10 neurofilament mouse 1:5
2ᵒ antibody: Alexa Fluor 488 (GFP) 1:500
Phalloidin 568 F-actin (RFP) 1:500
By Cindy Kha , Xenopus Course CSHL, on Nikon A1R confocal.

Congenital Malformations

Congenital Malformations - Ten Year Vision

Congenital malformation research will be transformed by the combination of 1) next generation human genomics and 2) functional analysis of candidate genes in model systems. In order to lead this revolution, we need to create a translational infrastructure that enrolls congenital malformations patients into genomics analyses, identifies candidate genes, and then tests those candidate genes in model systems for functional relevance. Once functional relevance is established, then deep mechanistic studies can discover the underlying developmental role. Go to the Congenital Malformations Research page to read about the long term aims of this research program.