Sarah Elsea

PhD
Advisor, Global MAPS

Dr. Sarah Elsea is the Advisor for Global MAPS at Baylor Genetics. 

Dr. Elsea received her bachelor’s in chemistry from Missouri State University in Springfield, MO. Following her bachelor’s degree, Dr. Elsea went to Nashville, TN where she pursued her PhD in Biochemistry at Vanderbilt University. She did postdoctoral fellowship in human molecular genetics and ABMG fellowship training in clinical biochemical genetics at Baylor College of Medicine (BCM).  She then spent 15 years working at other academic institutions before coming back to BCM.  

Dr. Elsea is currently the Chair of the Professional Advisory Board for PRISMS, Inc., the support group for Smith-Magenis syndrome. She also serves on the Board of the American Board of Medical Genetics and on the Board of the American College of Medical Genetics and Genomics Foundation. 

Outside of work, Dr. Elsea enjoys traveling, baking, and spending time with her two daughters and two dogs. She is an American

Position

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Advisor
Global MAPS
Baylor Genetics
Houston, TX, United States

Education

Fellowship at Baylor College of Medicine
Clinical Biochemical Genetics
Houston, Texas, United States

Postdoctoral Fellowship at Baylor College of Medicine
Human Molecular Genetics
Houston, TX, United States

Postdoctoral Fellowship at Vanderbilt University
Enzymology
Nashville, TN, United States

PhD from Vanderbilt University
Nashville, TN, United States

BS from Missouri State University
Springfield, MO, United States

Certifications

Clinical Biochemical Genetics
American Board of Medical Genetics

Publications
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Brian J. Shayota, Claudia Soler‐Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. American Journal of Medical Genetics Association. Mar. 2019. PMID: 30848071 

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

Kevin E. Glinton, Paul J. Benke, Matthew A. Lines, Michael T. Geraghty, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Yi Jiang, Adam D. Kennedy, Michael S. Grotewiel, V. Reid Sutton, Sarah H. Elsea, Ayman W. El-Hattab. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Molecular Genetics and Metabolism Reports.  Mar 2018; PMID: 29269105

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Aug;121(4):314-319. Epub 2017 Jun 24. PMID: 28673551

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies

Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. pii: S2213-2198(2017)30082-X. PMID: 28286158

MBD5 Haploinsufficiency

Mullegama SV, Mendoza-Londono R, Elsea SH. MBD5 Haploinsufficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2016 Oct 27. PMID: 27786435

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163

Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia

Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD. Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016 Aug 30;7:12642. PMID: 27572891

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. PMID: 27504266

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency

Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15;24(22):6417-27. PMID: 26358771

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. “Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.” J Clin Endocrinol Metab. 2015 May;100(5):1723-30. PMID: 25781356

Sarah Elsea

PhD
Advisor, Global MAPS

Dr. Sarah Elsea is the Advisor for Global MAPS at Baylor Genetics. 

Dr. Elsea received her bachelor’s in chemistry from Missouri State University in Springfield, MO. Following her bachelor’s degree, Dr. Elsea went to Nashville, TN where she pursued her PhD in Biochemistry at Vanderbilt University. She did postdoctoral fellowship in human molecular genetics and ABMG fellowship training in clinical biochemical genetics at Baylor College of Medicine (BCM).  She then spent 15 years working at other academic institutions before coming back to BCM.  

Dr. Elsea is currently the Chair of the Professional Advisory Board for PRISMS, Inc., the support group for Smith-Magenis syndrome. She also serves on the Board of the American Board of Medical Genetics and on the Board of the American College of Medical Genetics and Genomics Foundation. 

Outside of work, Dr. Elsea enjoys traveling, baking, and spending time with her two daughters and two dogs. She is an American

Position

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Advisor
Global MAPS
Baylor Genetics
Houston, TX, United States

Education

Fellowship at Baylor College of Medicine
Clinical Biochemical Genetics
Houston, Texas, United States

Postdoctoral Fellowship at Baylor College of Medicine
Human Molecular Genetics
Houston, TX, United States

Postdoctoral Fellowship at Vanderbilt University
Enzymology
Nashville, TN, United States

PhD from Vanderbilt University
Nashville, TN, United States

BS from Missouri State University
Springfield, MO, United States

Certifications

Clinical Biochemical Genetics
American Board of Medical Genetics

Publications
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Brian J. Shayota, Claudia Soler‐Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. American Journal of Medical Genetics Association. Mar. 2019. PMID: 30848071 

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

Kevin E. Glinton, Paul J. Benke, Matthew A. Lines, Michael T. Geraghty, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Yi Jiang, Adam D. Kennedy, Michael S. Grotewiel, V. Reid Sutton, Sarah H. Elsea, Ayman W. El-Hattab. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Molecular Genetics and Metabolism Reports.  Mar 2018; PMID: 29269105

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Aug;121(4):314-319. Epub 2017 Jun 24. PMID: 28673551

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies

Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. pii: S2213-2198(2017)30082-X. PMID: 28286158

MBD5 Haploinsufficiency

Mullegama SV, Mendoza-Londono R, Elsea SH. MBD5 Haploinsufficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2016 Oct 27. PMID: 27786435

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163

Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia

Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD. Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016 Aug 30;7:12642. PMID: 27572891

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. PMID: 27504266

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency

Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15;24(22):6417-27. PMID: 26358771

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. “Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.” J Clin Endocrinol Metab. 2015 May;100(5):1723-30. PMID: 25781356

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