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Staff Clinician

Office of the Clinical Director

Program Director

NHGRI Medical Biochemical Genetics Fellowship

Program Director

NHGRI Clinical Biochemical Genetics Fellowship


M.D. Johns Hopkins University School of Medicine

M.P.H. Johns Hopkins Bloomberg School of Public Health


Dr. Merideth went to medical school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at the Mayo Clinic in Rochester, Minnesota before working as a Gynecologist at the Mayo Clinic in Arizona. She then came to work as a Gynecologist at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in Clinical Biochemical Genetics. Dr. Merideth is board certified in Obstetrics/Gynecology, Clinical Genetics and Clinical Biochemical Genetics. She also holds a Master of Public Health degree from Johns Hopkins University School of Public Health (Bloomberg School of Public Health).

Since 2007, Dr. Merideth has been a Staff Clinician at NHGRI, where she sees patients with a variety of genetic and metabolic disorders, providing care in both gynecology and genetics.

In 2016, Dr. Merideth became the Program Director of NHGRI’s Medical Biochemical Genetics Fellowship Program, and Training Director of the Clinical Biochemical Genetics Fellowship Program. She also serves as faculty in the Laboratory Genetics and Genomics (LGG) Fellowship program and chairs its Clinical Competency and Program Evaluation Committees.

Recently, she completed a 6-year term as Chair of the Graduate Medical Education Committee’s (GMEC) Policy Subcommittee, at NIH. Dr. Merideth represents NHGRI’s training programs on the GMEC Wellness Committee, and she also initiated and chairs the training program’s Wellness Committee.

Dr. Merideth is involved nationally with graduate medical education and has served on the Board of Directors of the Accreditation Council on Graduate Medical Education (ACGME). She is currently the Chair of the ACGME Review Committee for Medical Genetics and Genomics and represents the ACGME Council of Review Committee Chairs (CRCC) on the ACGME Awards Committee.

Dr. Merideth served on the NICHD/NIH Institutional Review Board (IRB) for 10 years and will serve on the American Board of Medical Genetics and Genomics (ABMGG) Board of Directors in 2024.

Scientific Summary

Dr. Merideth’s scientific interests include expanding the phenotype for rare diseases and genetic syndromes. She is also active in residency education and training, and residents wellness. As a Clinical Fellow at NIH, Dr. Merideth helped conduct the first Natural History Study in Hutchinson-Gilford Progeria Syndrome (HGPS), developing outcome parameters which were later used in the first clinical trial for HGPS. Working with the Xeroderma Pigmentosum team at NIH, Dr. Merideth identified and published the first report of Primary Ovarian Insufficiency in this patient population. Working with Dr. Stratton and the NCI DICER1 team, Dr. Merideth published on the gynecologic and reproductive health issues in patients with pathogenic germline variants in DICER1.

Her current research interests include expanding the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz syndrome. Dr. Merideth  actively engages with patient advocacy groups, and with patients and families across the country.


McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, et al. A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome. J Clin Invest. 2023 Oct 2;133(19):e164918.

Desai JV, Urban A, Swaim DZ, Colton B, Kibathi LW, Ferrè EMN, Stratton P, Merideth MA, Hunsberger S, et al. Efficacy of cochleated amphotericin b in mouse and human mucocutaneous candidiasis. Antimicrob Agents Chemother. 2022 Jul 19;66(7):e0030822.

O'Brien KJ, Parisi X, Shelman NR, Merideth MA, Introne WJ, et al. Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. J Intern Med. 2021 Jul;290(1):129-140.

Debs S, Ferreira CR, Groden C, Kim HJ, King KA, King MC, Lehky T, Cowen EW, Brown LH, Merideth M, Owen CM, et al. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Am J Med Genet A. 2021 Jul;185(7):2102-2107.

Testa LC, Jule Y, Lundh L, Bertotti K, Merideth MA, O'Brien KJ, et al. Automated digital quantification of pulmonary fibrosis in human histopathology specimens. Front Med (Lausanne). 2021;8:607720.

Parta M, Cole K, Avila D, Duncan L, Baird K, Schuver BB, Wilder J, Palmer C, Daub J, Hsu AP, Zerbe CS, Marciano BE, Cuellar-Rodriguez JM, Bauer TR, Nason M, Calvo KR, Merideth M, Stratton P, et al. Hematopoietic cell transplantation and outcomes related to human papillomavirus disease in GATA2 deficiency. Transplant Cell Ther. 2021 May;27(5):435.e1-435.e11.

Phan VT, Stratton P, Tandon HK, Sinaii N, Aredo JV, Karp BI, Merideth MA, Shah JP. Widespread myofascial dysfunction and sensitisation in women with endometriosis-associated chronic pelvic pain: A cross-sectional study. Eur J Pain. 2021 Apr;25(4):831-840.

Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Genetic variants associated with Hermansky-Pudlak syndromePlatelets. 2020 May 18;31(4):544-547.

Stratton P, Battiwalla M, Tian X, Abdelazim S, Baird K, Barrett AJ, Cantilena CR, Childs RW, DeJesus J, Fitzhugh C, Fowler D, Gea-Banacloche J, Gress RE, Hickstein D, Hsieh M, Ito S, Kemp TJ, Khachikyan I, Merideth MA, Pavletic SZ, et al. Immune response following quadrivalent human papillomavirus vaccination in women after hematopoietic allogeneic stem cell transplant: A nonrandomized clinical trial. JAMA Oncol. 2020 May 1;6(5):696-705.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, et al. Defining the clinical phenotype of Saul-Wilson syndrome. Genet Med. 2020 May;22(5):857-866.

Merideth MA, Harney LA, Vyas N, Bachi A, Carr AG, Hill DA, Dehner LP, Schultz KAP, Stewart DR, Stratton P. Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. Gynecol Oncol. 2020 Mar;156(3):647-653.

Schultz KAP, Stewart DR, Kamihara J, Bauer AJ, Merideth MA, Stratton P, et al. DICER1 Tumor Predisposition. 2014 Apr 24 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.

Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, et al. Hermansky-Pudlak syndrome: Mutation update. Hum Mutat. 2020 Mar;41(3):543-580.

Merideth M, Tamura D, Angra D, Khan SG, Ferrell J, Goldstein AM, et al. Reproductive health in xeroderma pigmentosum: Features of premature aging. Obstet Gynecol. 2019 Oct;134(4):814-819.

Adams DR, Menezes S, Jauregui R, Valivullah ZM, Power B, Abraham M, Jeffrey BG, Garced A, Alur RP, Cunningham D, Wiggs E, Merideth MA, Chiang PW, et al. One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B. JCI Insight. 2019 Jan 24;4(2):e124387.

O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, et al. Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab. 2018 Sep;125(1-2):168-173.

Buchan A, Merideth MA, Childs RW, Stratton P. Novel management of vaginal chronic graft-versus-host disease causing haematometra and haematocolpos. BMJ Case Rep. 2018 Apr 28;2018:bcr2017222720.

El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, et al. Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. PLoS One. 2018;13(3):e0194193.

Scrivani C, Merideth MA, Klepac Pulanic T, Pavletic S, Childs RW, Hsieh MM, Stratton P. Early diagnosis of labial fusion in women after allogeneic hematopoietic cell transplant enables outpatient treatment. J Low Genit Tract Dis. 2017 Apr;21(2):157-160.

Grayson PC, Yazici Y, Merideth M, Sen HN, et al. Treatment of mucocutaneous manifestations in Behçet's disease with anakinra: a pilot open-label study. Arthritis Res Ther. 2017 Mar 24;19(1):69.

Merideth MA, LB Gordon, S Clauss, V Sachdev, ACM Smith, MB Perry, CC Brewer, C Zalewski, HJ Kim, B Solomon, BP Brooks, LH Gerber, ML Turner, DL Domingo, TC Hart, J Graf, JC Reynolds, A Gropman, JA Yanovski, M Gerhard-Herman, FS Collins, EG Nabel, RO Cannon, WA Gahl, Introne WJ. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 358:592-604, 2008.

Last updated: January 3, 2024