BCH Logo
BCH Logo
The Beggs Lab

Alan Beggs, PhD

Director, The Manton Center for Orphan Disease Research; Associate Director, IDDRC, Boston Children's Hospital; Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School.

Research Focus
Genetics of rare neurodevelopmental disease.
Brief Research Description
Dr. Beggs’ research focuses on understanding the genetics and pathophysiology of congenital myopathies, a group of severe developmental disorders characterized by skeletal muscle weakness typically presenting at birth or soon thereafter. The Beggs Laboratory has been responsible for identification of numerous genes for nemaline, centronuclear and other forms of myopathy, has made contributions to our understanding of the diseases’ natural histories and pathophysiology, and has developed gene-replacement and other molecular approaches to therapies for these diseases. Through the Manton Center for Orphan Disease Research, these approaches are applied to a wide range of severe intellectual and developmental disorders of childhood.
Key Publications (PMCIDs)

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N.
Ann Neurol. 2020 Jan 22. doi: 10.1002/ana.25685. [Epub ahead of print] PubMed PMID: 31970803. PMCID: pending

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW.
N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. PubMed PMID: 31597037; PubMed Central PMCID: PMC6961983.

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.
Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH.
Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). Pii: a004184. doi: 10.1101/mcs.a004184. Print 2019 Aug. PubMed PMID: 31127036; PubMed Central PMCID: PMC6672024.

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK.
Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22. PubMed PMID: 28237839; PubMed Central PMCID: PMC5383631.

< BACK TO DIRECTORY