Sarah H Elsea, Ph.D.

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Sarah H Elsea, Ph.D.

Professor

Phone

713-798-5484

Email

elsea@bcm.edu

Positions

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

Advisor: Biochemical Genetics
Global MAPS - Clinical Metabolomics
Baylor Genetics

Member: Dan L Duncan Comprehensive Cancer Center

Member: Center for Drug Discovery
Baylor College of Medicine
Houston, TX

Professor: Graduate Program in Development, Disease Models & Therapeutics

Addresses

Baylor Genetics (Clinic)
: John P. McGovern Campus
Room: NABS-0280
Houston, TX 77021
United States

Baylor College of Medicine (Lab)
: Elsea Lab, R731
One Baylor Plaza
Houston, TX 77030
United States
Phone: (713) 798-5484

Office (Office)
: One Baylor Plaza, R715
BCM225
Houston, TX 77030
United States
Phone: (713) 798-5484
elsea@bcm.edu

Education

BS from Missouri State University: 05/1990 - Springfield, Missouri United States; Chemistry, Biology

PhD from Vanderbilt University: 05/1994 - Nashville, Tennessee United States; Biochemistry

Post-Doctoral Fellowship at Vanderbilt University: 12/1994 - Nashville, Tennessee United States; Enzymology

Postdoctoral Fellowship at Baylor College of Medicine: 08/1998 - Houston, Texas United States; Human molecular genetics

Fellowship at Baylor College of Medicine: 05/1998 - Houston, Texas United States; Clinical Biochemical Genetics

Certifications

Clinical Biochemical Genetics: American Board of Medical Genetics

Professional Interests

Molecular and biochemical basis of rare disease; genomic disorders; metabolomics; diagnostics; neurodevelopmental disorders; caregiver concerns

Professional Statement

Despite many advances in the diagnosis of rare diseases, individual genetic variation and the pathophysiological mechanisms underlying these complex disorders are often poorly understood. Our research goals are to define the biochemical mechanisms and molecular pathways impacted by rare disease, particularly neurodevelopmental, neurodegenerative and neurometabolic disorders complicated by obesity and circadian rhythm defects, including autism, intellectual disability, seizures and behavioral phenotypes. Clinical and molecular analysis of neurometabolic conditions, such as citrate transporter deficiency, AADC deficiency, and SSADH deficiency and multiple genomic disorders, wherein deletion or duplication of a portion of the genome is the primary underlying etiology leading to altered gene dosage, are the primary areas of investigation in the Elsea Lab.

We are developing and translating into clinical practice personalized medicine approaches for neurodevelopmental, neurogenerative and metabolically-driven conditions utilizing genomic, metabolomic and transcriptomic approaches to improve diagnosis, disease management and quality of life for individuals with rare disease. To improve diagnosis and genomic variant interpretation and to address the need for a broad-based functional metabolic screen that goes beyond traditional testing, we developed at Baylor Genetics a clinical untargeted metabolomics pipeline for diagnosis and management of inborn errors of metabolism. Global MAPS offers a functional genomics approach to clinical genomic variant interpretation and has facilitated biomarker discovery and development of metabolomic profiles for diagnosis and therapeutic management for multiple metabolic conditions. Further supporting efforts in personalized medicine, the large-scale projects in the BCM-Human Genome Sequencing Center, such as All of Us, provide insight into genomic variation in diverse populations and facilitate personalized medicine approaches to medical care.

We incorporate multi-omics technologies to interrogate mouse, cellular, and other rare disease models. Integrating genomics, expression profiling, metabolomics, epigenetic profiling and other functional data to define the biochemical and molecular pathways that may be amenable to therapeutic targeting provides a comprehensive approach to improve diagnosis, enhance understanding of phenotypes and define the molecular and metabolic pathways altered in the disease state. Defining molecular relationships among subsets of neurodevelopmental disorders toward developing common, targeted therapeutics is a key outcome of these efforts. For example, a hallmark feature of the genomic disorder Smith-Magenis syndrome (SMS) is a circadian rhythm defect, with significant sleep disturbance and obesity. Our work has shown that RAI1 directly regulates expression of BDNF, a key player in development and metabolism, and CLOCK, a master regulator of circadian rhythm, providing strong evidence for molecular and cellular etiology behind the sleep phenotype—these data from the base knowledge for therapeutic targeting in SMS. To further support these efforts, we designed and maintain the SMS Patient Registry to collect natural history data across the lifespan. Other patient registries are also in development to further our knowledge of rare conditions and to support ongoing research efforts to bring basic research closer to the patient.

Current projects also include: (1) investigating the role of NAD kinase in both Alzheimer’s disease and pancreatic cancer toward developing personalized approaches to treatment and prevention of disease. These studies use cell culture and conditional mouse models to improve our understanding of the underlying etiology of the associated neurodegenerative and neoplastic mechanisms; (2) developing an expanded newborn screening disorder panel to improve early screening for treatable genetic conditions, reducing health disparities associated with delayed diagnosis of these rare but treatable disorders; and (3) improving genomic variant curation and interpretation to facilitate earlier diagnosis for rare disease.