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Our Impact

Approximately one in four admissions to tertiary care pediatric hospitals result from conditions with a genetic basis. That's why the Division of Pediatric Genetics and Metabolism takes its responsibility to evaluate, diagnose, and treat children with genetic disorders very seriously.

2024 Impact

  • By the Numbers

    By the Numbers

    Faculty and Staff icon

    Faculty

    • 6 faculty
    Fellowships icon

    Clinical

    • 2 clinical sites
    • 4 clinicians
    • 507 inpatient encounters
    • 2,688 outpatient encounters
    Doctors in Training icon

    Education

    • 1 resident
    Clinical Studies Icon

    Research

    • 5 active awards
    • 1 lab and data study
    • 1 public/federal (K award)
    • $364,600 total awards
    • $16,510 clinical trials finance
    • 27 publications
    • 976 citations
  • Honors and Awards

    Honors and Awards

    Angela Scheuerle: Medical and Scientific Trailblazer Rare Impact Award, National Organization for Rare Disorders, 2025

    Ralph DeBerardinis: Outstanding Investigator Award, National Cancer Institute, September 2023

  • Top Peer-Reviewed Publications and Book Chapters

    Top Peer-Reviewed Publications and Book Chapters

    Wu Z, Bezwada D, Cai F, Harris RC, Ko B, Sondhi V, Pan C, Vu HS, Nguyen PT, Faubert B, Cai L, Chen H, Martin-Sandoval M, Do D, Gu W, Zhang Y, Zhang Y, Brooks B, Kelekar S, Zacharias LG, Oaxaca KC, Patricio JS, Mathews TP, Garcia-Bermudez J, Ni M, DeBerardinis RJ. Electron transport chain inhibition increases cellular dependence on purine transport and salvage. Cell Metab. 2024 Jul 2;36(7):1504-1520.e9. doi: 10.1016/j.cmet.2024.05.014. Epub 2024 Jun 13. PMID: 38876105; PMCID: PMC11240302.

    Bezwada D, Perelli L, Lesner NP, Cai L, Brooks B, Wu Z, Vu HS, Sondhi V, Cassidy DL, Kasitinon S, Kelekar S, Cai F, Aurora AB, Patrick M, Leach A, Ghandour R, Zhang Y, Do D, McDaniel P, Sudderth J, Dumesnil D, House S, Rosales T, Poole AM, Lotan Y, Woldu S, Bagrodia A, Meng X, Cadeddu JA, Mishra P, Garcia-Bermudez J, Pedrosa I, Kapur P, Courtney KD, Malloy CR, Genovese G, Margulis V and DeBerardinis RJ. Mitochondrial complex I promotes kidney cancer metastasis. In press, Nature 2024 633(8031):923-931. PMID: 39143213

    Scheuerle AE, Ni M, Ahmad AA, Timmons CF, Rakheja D, Gordon EE, Boothe M. Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure. Amer J Hum Genet A 2023;191A:2324-2328. Epub 2023 June 5. PMID 37272762

    Abou Haidar L, Pachnis P, Gotway GK, Ni M, DeBerardinis RJ, McNutt MC. Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management. JIMD Rep. 2023 Sep 7;64(6):403-409. doi: 10.1002/jmd2.12388. PMID: 37927481; PMCID: PMC10623101.

    Benjamin RH, Nguyen JM, Drummond-Borg M, Scheuerle AE, Langlois PH, Canfield MA, Shumate CJ, Mitchell LE, Agopian AJ. Classification of isolated versus multiple birth defects: An automated process for population-based registries. Am J Med Genet A. 2024 Oct;194(10):e63714.

    Cai L, Hammond NG, Tasdogan A, Alsamraae M, Yang C, Cameron RB, Quan P, Solmonson A, Gu W, Pachnis P, Kaur M, Chang BK, Zhou Q, Hensley CT, Do QN, Martins Nascentes Melo L, Ubellacker JM, Kaushik A, Clare MG, Alcazar IN, Kurylowicz K, Marcuccilli JD, Allies G, Kutritz A, Klode J, Ramesh V, Rogers TJ, Rao AD, Crentsil HE, Li H, Brister F, McDaniel P, Xu X, Evers BM, Zacharias LG, Sudderth J, Xu J, Mathews TP, Oliver D, Minna JD, Waters J, Morrison SJ, Kernstine KH, Faubert B, DeBerardinis RJ. High Glucose Contribution to the TCA Cycle Is a Feature of Aggressive Non-Small Cell Lung Cancer in Patients. Cancer Discov. 2025 Apr 2;15(4):702-716.

    Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY. Clinical Exome Studies Have Inconsistent Coverage. Clin Chem. 2020 Jan 1;66(1):199-206.

    Wu Z, Nguyen PT, Sondhi V, Yao RW, Lu Z, Dai T, Chiang JC, Cai F, Williams IM, Blatt EB, Shang Z, Cai L, Zhang J, Moore MD, Alshamleh I, Li X, Ogu T, Zacharias LG, Winston R, Patricio JS, Johnson X, Chen WM, Cong Q, Mathews TP, Zhang Y, Zhang L, DeBerardinis RJ. NUDT5 regulates purine metabolism and thiopurine sensitivity by interacting with PPAT. Science. 2025 Nov 6:eadx9717. doi: 10.1126/science.adx9717. Epub ahead of print. PMID: 41196949.

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