A. Reghan Foley, M.D., MD(Res)

A. Reghan Foley, MD - NIH Faculty Photograph

A. Reghan Foley, M.D., MD(Res)

Senior Research Physician

BG 10 RM 2B39B

Dr. Reghan Foley is a Senior Research Physician within the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch.  She graduated from Georgetown University College of Arts and Sciences with a Bachelor of Science in Languages and obtained her M.D. degree from Georgetown University School of Medicine.  Dr. Foley completed her Pediatric Internship and Residency training at Miami Children’s Hospital and completed her Child Neurology and Neurology training at the Children’s Hospital of Philadelphia (CHOP) and the Hospital of the University of Pennsylvania.  She completed a Fellowship in Pediatric Neuromuscular Disease under the mentorship of Dr. Carsten Bönnemann at the Children’s Hospital of Philadelphia, where she trained in performing and interpreting muscle ultrasound and was involved in pediatric neuromuscular clinical trials.  Dr. Foley then completed a Clinical Research Fellowship under the mentorship of Professor Francesco Muntoni at the Dubowitz Neuromuscular Centre, University College London Institute of Child Health and the Great Ormond Street Hospital for Children, London, UK.  She completed an M.D. Research degree [MD(Res)] at the University College London in which the focus of her research and topic of her thesis was the Collagen VI-related muscular dystrophies.  

During her fellowship in London, Dr. Foley was also involved in gene discovery efforts in the neuromuscular diseases as part of the Rare Diseases Working Group of the UK10K, an exome sequencing project in collaboration with the Wellcome Sanger Institute, Cambridge, UK.  Dr. Foley then worked as a Neuromuscular Specialist at the Children’s University Hospital Temple Street, Dublin, Ireland where she linked diagnostic efforts in genetically uncharacterized patients with exome sequencing efforts at the University College London.  

Dr. Foley joined the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS in 2015.  Together with Dr. Carsten Bönnemann, she oversees the section's clinical research efforts.  The Neuromuscular and Neurogenetic Disorders of Childhood Section sees patients with congenital onset neuromuscular conditions who are genetically undiagnosed, follows children diagnosed with rare congenital onset neuromuscular conditions via various natural history studies, and enrolls patients who are eligible to participate in the section's active clinical trials.  Dr. Foley has served as an investigator for the section’s Phase 1 clinical trials in the COL6-related dystrophies, LAMA2-related dystrophies, MTM1-related myopathy and giant axonal neuropathy.

Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med. 2021 May 31 [Epub ahead of print]. 

Foley AR, Mohassel P, Donkervoort S, et al. Collagen VI-Related Dystrophies. 2004 Jun 25 [Updated 2021 Mar 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 

Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. Neurology. 2021 Mar 9;96(10):e1413-e1424.

Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur K, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann Neurol. 2020 Aug;88(2):332-347.

Sarkozy A, Foley AR, Zambon AA, Bönnemann CG, Muntoni F. LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. Front Mol Neurosci. 2020 Aug 5;13:123.

Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. Neurology. 2019 Nov 19;93(21):e1932-e1943.

Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR. Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. Neurology. 2019 Oct 15;93(16):e1535-e1542.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Sizov K, Nalls M, Chen GS, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, the COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, and Bönnemann CG. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is a unique target for wildtype-restoring splice-correction approaches. JCI Insight. 2019 Mar 21;4(6).

Mohassel P, Foley AR, Bönnemann CG. Extracellular matrix-driven congenital muscular dystrophies. Matrix Biol. 2018 Oct;71-72:188-204. 

Mohassel P, Foley AR, Donkervoort S, Fequiere PR, Pak K, Bönnemann CG, Mammen AL. Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child. Muscle Nerve. 2017 Dec;56(6):1177-1181. 

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 Apr 19;9(386).

Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG. The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016 Oct 6;375(14):1355-1364.

Foley AR, Donkervoort S, Bönnemann CG. Next-generation sequencing still needs our generation’s clinicians. Neurol Genet. 2015 Aug 13;1(2):e13

Foley AR, Pitceathly RD, He J, Kim J, Pearson NM, Muntoni F, Hanna MG. Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry. 2014;85(9)1012-5.

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014;137(Pt1):44-56.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013;136(Pt12):3625-33.

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat. 2013 Nov;34(11):1558-67.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, Macarthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. Am J Hum Genet. 2013 Jul;93(1):29-41.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry C, Feng L, Haliloglu G, Orhan D, Dobyns W, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, UK10K Consortium, Stemple D, Lin YY, Muntoni F. Mutations in B3GALNT2 cause congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan. Am J Hum Genet. 2013 Mar 7;92(3):354-65.

Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg, UK10K Consortium, Michele D, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F. ISPD gene mutations are a common cause of congenital and limb girdle muscular dystrophies. Brain. 2013;136(Pt1):269-281.

Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simon-Sanchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012;135(9):2875-82.

Godfrey C, Foley AR, Clement E, Muntoni F. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev. 2011 Jun;21:278-285.

Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69:206-211.

Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord. 2009 Dec;19:813-817.