Email

dscott@bcm.edu

Positions

Associate Professor

Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US

Education

BS from Brigham Young University

01/1993 - Provo, UT United States

PhD from University Of Iowa

01/2000 - Iowa City, IA United States

MD from University Of Iowa

01/2000 - Iowa City, IA United States

Residency at University Of Utah

01/2003 - Salt Lake City, UT United States

Pediatrics

Residency at Baylor College Of Medicine

01/2004 - Houston, TX United States

Clinical Genetics

Certifications

General Pediatrics

American Board of Pediatrics

Clinical Genetics

American Board of Medical Genetics

Honors & Awards

National finalist for Council of Graduate Schools/UMI Outstanding Dissertation in the Biological and Life Sciences

01/2000

Spriestersbach Dissertation Prize

University of Iowa (01/1999)

3rd Place, Oral Presentation, Midwest Student Medical Research Forum

01/1997

Borts Award

University of Iowa (01/1996)

New Researcher Club Award

University of Iowa (01/1994)

Outstanding Graduate Teaching Award 2011

Molecular and Human Genetics Department (01/2012)

Fulbright and Jaworski L.L.P. Faculty Excellence Award for Teaching/Evaluation

Baylor College of Medicine (01/2013)

Professional Interests

• Identifying and characterizing genes responsible for common birth defects

Professional Statement

Our laboratory is dedicated to identifying and characterizing genes and genomic alterations that cause common, life-threatening birth defects and determining the molecular mechanisms by which they impact human health.

Congenital Diaphragmatic Hernia and Cardiovascular Malformations: Children with congenital diaphragmatic hernia (CDH) have an abnormal opening in the diaphragm that allows abdominal organs, like the liver and intestines, to enter into the chest. This invasion interferes with normal lung development causing severe respiratory problems at birth. CDH affects about one in every 3,500 newborns. CDH-associated mortality and morbidity are high, particularly in the subset of individuals who have a co-existing cardiovascular malformation (CVM). We use clinical and molecular data from patients and machine learning to identify genes associated with CDH and/or CVM. Genes we have worked on include GATA4, SOX7, ZFPM2, FREM1, FREM2, FRAS1, NONO, NR2F2, FZD2, HCCS, HEY2, FBN1, SON, TRRAP, FGFRL1, and FOXP1. We are now using these models developed in our laboratory to discover the morphogenetic and molecular mechanisms by which a subset of these genes function during diaphragm and heart development.

1p36 Deletion Syndrome: Deletions of chromosome 1p36 can cause a variety of birth defects including brain anomalies, eye/vision problems, hearing loss, cardiovascular defects, cardiomyopathy and renal anomalies. Approximately one in 5,000 newborns carries either a terminal or interstitial deletion on chromosome 1p36. The RERE gene is located on chromosome 1p36 and encodes a nuclear receptor coregulator that plays an important role during embryonic development. Using a combination of animal models and data from individuals with mutations of RERE, we have shown that RERE plays a critical role in the development of the brain, eye, inner ear, heart and kidneys. We are actively working to determine the molecular mechanisms by which RERE-deficiency causes defects in each of these organs. We are also searching for other genes that contribute to the medical problems seen in individuals with 1p36 deletions.

Esophageal Atresia/Tracheoesophageal Fistula (EA/TEF): Another life-threatening birth defect of interest is esophageal atresia/tracheoesophageal fistula (EA/TEF). During development, the esophagus (stomach tube) and the trachea (windpipe) develop from a common progenitor called the anterior foregut tube. In about one in 3,500 newborns, the development of these tubes is abnormal resulting in failure of the esophagus to reach the stomach (esophageal atresia) or an abnormal connection between the trachea and esophagus (tracheoesophageal fistula). Approximately 50% of EA/TEF cases occur in association with additional anomalies and 10% of cases have a constellation of findings known as VACTERL (Vertebral, Anal, Cardiac, TracheoEsophageal Fistula, Renal and Limb) association. We are presently using array-based copy number detection assays and whole exome sequencing to identify genes that cause these disorders.

Neurodevelopmental Phenotypes: We work with physicians and scientists from around the world to identify genes and genomic regions that are associated with neurodevelopmental phenotypes including developmental delay, intellectual disability and autism.

Websites

Selected Publications

• Kim BJ, Scott DA "RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells.." Dev Dyn..2021;250:1398-140. Pubmed PMID: 33742727
• Kim BJ, Zaveri HP, Kundert PN, Jordan VK, Scott TM, Carmichael J, Scott DA "RERE deficiency contributes to the development of orofacial clefts in humans and mice.." Hum Mol Genet..2021;30:595-602.
• Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, (…), Scott DA, Holder JL Jr, Tartaglia M "SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.." Am J Hum Genet.2021;108:502-516.
• Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA "Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.." J Med Genet..2021;: Pubmed PMID: 33461977

Memberships

American Society of Human Genetics

Member

American Heart Association

(07/2014)