Positions
- Professor
-
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
- Faculty Member
-
Graduate Program in Genetics and Genomics
Baylor College of Medicine
- Faculty Member
-
Graduate Program in Development, Disease Models & Therapeutics
Baylor College of Medicine
- Director
-
Medical Research Pathway
Baylor College of Medicine
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 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 mouse 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 carry either a terminal or interstitial deletion on chromosome 1p36. The RERE and SPEN genes are located on chromosome 1p36 and encode transcription factors that play important roles during embryonic development. Using a combination of animal models and data from individuals with deleterious variants affecting RERE, we have shown that RERE plays a critical role in the development of the brain, eye, inner ear, palate, heart and kidneys. We are actively working to determine the molecular mechanisms by which RERE deficiency causes defects in each of these organs and to define the spectrum of defects caused by a lack of SPEN function. We are also searching for other genes that contribute to the medical problems seen in individuals with 1p36 deletions.
Other Structural Birth Defects and Neurodevelopmental Phenotypes: We work with physicians and scientists from around the world to identify genes and genomic regions that are associated with other structural birth defects and neurodevelopmental phenotypes including developmental delay, intellectual disability and autism spectrum disorder. Recently, we have used machine learning to aid us in these efforts. This has resulted in the discovery of dozens of low-penetrance genes for a variety of phenotypes.
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 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 mouse 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 carry either a terminal or interstitial deletion on chromosome 1p36. The RERE and SPEN genes are located on chromosome 1p36 and encode transcription factors that play important roles during embryonic development. Using a combination of animal models and data from individuals with deleterious variants affecting RERE, we have shown that RERE plays a critical role in the development of the brain, eye, inner ear, palate, heart and kidneys. We are actively working to determine the molecular mechanisms by which RERE deficiency causes defects in each of these organs and to define the spectrum of defects caused by a lack of SPEN function. We are also searching for other genes that contribute to the medical problems seen in individuals with 1p36 deletions.
Other Structural Birth Defects and Neurodevelopmental Phenotypes: We work with physicians and scientists from around the world to identify genes and genomic regions that are associated with other structural birth defects and neurodevelopmental phenotypes including developmental delay, intellectual disability and autism spectrum disorder. Recently, we have used machine learning to aid us in these efforts. This has resulted in the discovery of dozens of low-penetrance genes for a variety of phenotypes.
Selected Publications
-
Rivera-Munoz EA, Zhao XE, Rosenfeld JA, Luna PN, Shaw CA, Posey JE, Scott DA. " Clinical exome sequencing efficacy and phenotypic expansions involving non- isolated congenital anomalies of kidney and urinary tract (CAKUT+) " Eur J Hum Genet.. 2025 ;
Pubmed PMID: 40913078. -
Volpi J, Zhao X, Owen N, Evans T, Holder-Espinasse M, (…), Scott DA. " Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions " Eur J Hum Genet.. 2025 ;
Pubmed PMID: 40796658. -
Kao EC, Mizerik EA, Bacino CA, Dai H, Vossaert L, Scott DA. " MED12 Loss-of- Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability " Am J Med Genet A. 2025 Jan ; 197 (1) : e63868.
Pubmed PMID: 39215511. -
Waskow ER; Undiagnosed Diseases Network; Emrick LT, Rosenfeld JA, Ketkar S, Burrage LC, Scott DA. " Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome " Am J Med Genet A. 2025 Jan ; 197 (1) : e63845.
Pubmed PMID: 39166428.
Memberships
- American Society of Human Genetics
- Member
- American Heart Association
- (07/2014)
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