Andrea Gropman, MD

Member, St. Jude Faculty

Director, Neurometabolic Translational Research

Mark F. Tamer Endowed Chair in Pediatric Neurology

Departments

Divisions

Center for Experimental Neurotherapeutics

Education

BA – Brandeis University, Waltham, MA
MD – UMass Chan Medical School, Worcester, MA
Residency (Pediatrics) – Johns Hopkins Hospital, Baltimore, MD
Residency (Adult Neurology) – The George Washington University Medical School and Health Sciences, Washington, DC
Fellowship (Pediatric Neurology) – Children’s National Hospital, Washington, DC
Fellowship (Clinical Genetics) – National Human Genome Research Institute, National Institutes of Health
Fellowship (Biochemical Genetics) – National Human Genome Research Institute, National Institutes of Health

Research Interests

Evaluating neurocognitive injury in inborn errors of metabolism using multimodal neuroimaging
Pharmacologic development in mitochondrial disorders and urea cycle disorders
Mitochondrial and leukodystrophy Disease multimodal assessment to establish clinical trial readiness
Using fNIRs to establish biomarkers of executive function deficits in intoxication type metabolic disorders
Establishing biomarkers for clinical trial readiness in mendelian disorders associated with neurodevelopmental disabilities

Contact Information

Andrea Gropman, MD Center for Experimental Therapeutics MS 760 St. Jude Children’s Research Hospital 262 Danny Thomas Place Memphis, TN 38105-3678

Selected Publications

Zielonka M, Kölker S, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Druck AC, Ramdhouni N, Göde L, Hoffmann GF, Posset R. Urea Cycle Disorders Consortium (UCDC). Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders. Mol Genet Metab Aug 19, 2024;143(1-2):108566. doi:10.1016/j.ymgme.2024.108566. Online ahead of print.

Sen K, Harrar D, Pariseau N, Tucker K, Keenan J, Zhang A, Gropman A. Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years. Neurocrit Care Aug 13, 2024. doi: 10.1007/s12028-024-02073-4.

Chanvanichtrakool M, Schreiber JM, Chen WL, Barber J, Zhang A, Ah Mew N, Schulze A, Wilkening G, Nagamani SCS, Gropman A. Urea Cycle Disease Consortium. Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises. Pediatr Neurol Oct;159:48-55, 2024. doi: 10.1016/j.pediatrneurol.2024.06.013.

Patel R, Park AY, Marchi E, Gropman AL, Whitehead MT, Lyon GJ. Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors. Am J Med Genet A Jul 16, 2024:e63821. doi: 10.1002/ajmg.a.63821. Online ahead of print.

Patel R, Makwana R, Christ C, Marchi E, Ung N, Harpell R, Miyake CY, Gropman AL, Lyon GJ, Whitehead MT. Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes. medRxiv [Preprint] Jun 25, 2024:2024.06.24.24309433. doi: 10.1101/2024.06.24.24309433.

Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR, Undiagnosed Diseases Network. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. Genet Med Jul 2, 2024;26(10):101203. doi: 10.1016/j.gim.2024.101203. Online ahead of print.

McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V, Undiagnosed Diseases Network. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. Am J Med Genet A Jun 24, 2024:e63798. doi: 10.1002/ajmg.a.63798. Online ahead of print.

Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med Sep;26(9):101174, 2024. doi: 10.1016/j.gim.2024.101174.

Pickup E, Moore SA, Suwannarat P, Grant C, Ah Mew N, Gropman A, Sen K. Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder. Pediatr Neurol Jul;156:178-181, 2024. doi: 10.1016/j.pediatrneurol.2024.04.007.

Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Undiagnosed Diseases Network, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med Aug 5, 2024;221(8):e20232005. doi: 10.1084/jem.20232005.

Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ, Members of the Urea Cycle Disorders Consortium (UCDC), Gropman AL, Bedoyan JK. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database. Mol Genet Genomic Med Apr;12(4):e2443, 2024. doi: 10.1002/mgg3.2443.

Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A, Brain Gene Registry Consortium, Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. The Brain Gene Registry: a data snapshot. J Neurodev Disord Apr 17, 2024;16(1):17. doi: 10.1186/s11689-024-09530-3.

Stellacci E, Carter JN, Pannone L, Stevenson D, Moslehi D, Venanzi S, Undiagnosed Diseases Network, Bernstein JA, Tartaglia M, Martinelli S. Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. Am J Med Genet A Aug;194(8):e63627, 2024. doi: 10.1002/ajmg.a.63627.

Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd, Undiagnosed Diseases Network. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. Am J Med Genet A Jul;194(7):e63597, 2024. doi: 10.1002/ajmg.a.63597.

Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Undiagnosed Diseases Network, Tekin M, Züchner S. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol Apr;11(4):1075-1079, 2024. doi: 10.1002/acn3.51963.

Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab May;142(1):108363, 2024. doi: 10.1016/j.ymgme.2024.108363.

Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Undiagnosed Diseases Network, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet Mar 7, 2024;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001.

Gropman A, Chandra B. Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine. Neurotherapeutics Jan;21(1):e00332, 2024. doi: 10.1016/j.neurot.2024.e00332.

Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M, Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey. JMIR Public Health Surveill Feb 14, 2024;10:e48430. doi: 10.2196/48430.

Patel R, Park AY, Marchi E, Gropman AL, Whitehead MT, Lyon GJ. Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors. Am J Med Genet A Jul 16, 2024:e63821. doi: 10.1002/ajmg.a.63821. Full publication list for Andrea Gropman, MD

Last update: November 2024