Eric P Hoffman, PhD

Eric Hoffman

Dr. Hoffman has been involved in translational human molecular genetics, and applications of genomics to health problems since the mid 1980’s. He worked with Louis Kunkel as his first post-doc, and with Anthony Monaco and Michele Koenig identified the Duchenne muscular dystrophy gene and protein, dystrophin. Other accomplishments include identification of the periodic paralysis gene in humans and horses, genetic causes of recurrent pregnancy loss, mapping the Rett syndrome gene, and applications of microarrays to muscle disease. He has over 300 publications, and is among the most highly cited researchers in muscle disease.

Dr. Hoffman received his PhD in Genetics from Johns Hopkins University in 1986. He was then faculty at Harvard Medical School, and University of Pittsburgh School of Medicine. In 1999 he moved to Children’s National Medical Center in Washington DC to establish the Research Center for Genetic Medicine. The primary goal of this Center is to create interdisciplinary research programs capable of capitalizing on genome-enabled research approaches, and then rapidly translate the advances in understanding of disease pathogenesis to improved patient care. Duchenne muscular dystrophy remains his laboratory’s focus of research, with additional research projects on Limb-girdle muscular dystrophies, and inactivity and metabolic syndrome. His Center in Washington is committed to facilitating research nationally and internationally, and the Center houses six federally funded genomics and proteomic cores to provide research services to outside investigators.

Coordinated research programs in Dr. Hoffman’s Center include the Wicker Project for Muscular Dystrophy, and NIH-funded Center grants in Muscular dystrophy, and rehabilitation research. Dr. Hoffman also serves as the Scientific Director of the Cooperative International Neuromuscular Research Group (CINRG), an active clinical trial network with 21 sites in 10 countries.

Contact details

Research Center for Genetic Medicine
Children’s National Medical Center
111 Michigan Ave. NW
Washington DC 20010

Phone: 202 476 6011
FAX: 202 476 6014

Email: ehoffman@cnmcresearch.org

Links:
Wicker Project for Muscular Dystrophy:
www.wickerproject.org

Wellstone Muscular Dystrophy Center:
www.wellstone-dc.org

National Center for Medical Rehabilitation Research:
http://www.ncmrr.org/Sites/
ChildrensNationalMedicalCenter/tabid/182/
Default.aspx

Cooperative International Neuromuscular Research Group (CINRG):
www.cinrgresearch.org

Publications:

1: Hoffman EP, Monaco AP, Feener CC, Kunkel LM.
Conservation of the Duchenne muscular dystrophy 
gene in mice and humans.
Science. 1987 Oct 16;238(4825):347-50.
PMID: 3659917 [PubMed - indexed for MEDLINE]

2: Hoffman EP, Brown RH Jr, Kunkel LM.
Dystrophin: the protein product of the Duchenne
muscular dystrophy locus.
Cell. 1987 Dec 24;51(6):919-28.
PMID: 3319190 [PubMed - indexed for MEDLINE]

3: Hoffman EP, Fischbeck KH, Brown RH, Johnson M,
Medori R, Loike JD, Harris JB, Waterston R,
Brooke M, Specht L, et al.
Characterization of dystrophin in muscle-biopsy
specimens from patients with Duchenne's or Becker's
muscular dystrophy.
N Engl J Med. 1988 May 26;318(21):1363-8.
PMID: 3285207 [PubMed - indexed for MEDLINE]

4: Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J,
Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C,
Shneiderman B, Escolar D, Chen YW, Winokur ST,
Pachman LM, Fan C, Mandler R,Nevo Y, Gordon E,
Zhu Y, Dong Y, Wang Y, Hoffman EP.
Nuclear envelope dystrophies show a transcriptional
fingerprint suggesting disruption of Rb-MyoD
pathways in muscle regeneration.
Brain. 2006 Apr;129(Pt 4):996-1013. Epub 2006
Feb 14.
PMID: 16478798 [PubMed - indexed for MEDLINE]

5: Chen YW, Zhao P, Borup R, Hoffman EP.
Expression profiling in the muscular dystrophies:
identification of novel aspects of molecular
pathophysiology.
J Cell Biol. 2000 Dec 11;151(6):1321-36.
PMID: 11121445 [PubMed - indexed for MEDLINE]

6: Seo J, Bakay M, Chen YW, Hilmer S,
Shneiderman B,Hoffman EP.
Interactively optimizing signal-to-noise ratios in
expression profiling: project-specific algorithm
selection and detection p-value weighting in
Affymetrix microarrays.
Bioinformatics. 2004 Nov 1;20(16):2534-44.
Epub 2004 Apr 29.
PMID: 15117752 [PubMed - indexed for MEDLINE]

7: Chen YW, Nagaraju K, Bakay M, McIntyre O,
Rawat R, Shi R, Hoffman EP.
Early onset of inflammation and later involvement of
TGFbeta in Duchenne muscular dystrophy.
Neurology. 2005 Sep 27;65(6):826-34. Epub 2005
Aug 10.
PMID: 16093456 [PubMed - indexed for MEDLINE]


8: Sirianni N, Naidu S, Pereira J, Pillotto RF,
Hoffman EP.
Rett syndrome: confirmation of X-linked dominant
inheritance, and localization of the gene to Xq28.
Am J Hum Genet. 1998 Nov;63(5):1552-8. No
abstract available.
PMID: 9792883 [PubMed - indexed for MEDLINE]

9: Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N,
Scacheri C, Giron J, Schuette J, Innis J, Marino M,
Philippart M, Narayanan V, Umansky R, Kronn D,
Hoffman EP, Naidu S.
MeCP2 mutations in children with and without the
phenotype of Rett syndrome.
Neurology. 2001 Jun 12;56(11):1486-95.
PMID: 11402105 [PubMed - indexed for MEDLINE]

10: Rudolph JA, Spier SJ, Byrns G, Rojas CV,
Bernoco D, Hoffman EP.
Periodic paralysis in quarter horses: a sodium
channel mutation disseminated by elective breeding.
Nat Genet. 1992 Oct;2(2):144-7.
PMID: 1338908 [PubMed - indexed for MEDLINE]

11: Rojas CV, Wang JZ, Schwartz LS, Hoffman EP,
Powell BR, Brown RH Jr.
A Met-to-Val mutation in the skeletal muscle Na+
channel alpha-subunit in hyperkalaemic periodic
paralysis.
Nature. 1991 Dec 5;354(6352):387-9.
PMID: 1659668 [PubMed - indexed for MEDLINE]

12: Pegoraro E, Whitaker J, Mowery-Rushton P,
Surti U, Lanasa M, Hoffman EP.
Familial skewed X inactivation: a molecular trait
associated with high spontaneous-abortion rate
maps to Xq28.
Am J Hum Genet. 1997 Jul;61(1):160-70.
PMID: 9245997 [PubMed - indexed for MEDLINE]

13: Lanasa MC, Hogge WA, Kubik C, Blancato J,
Hoffman EP.
Highly skewed X-chromosome inactivation is
associated with idiopathic recurrent spontaneous
abortion.
Am J Hum Genet. 1999 Jul;65(1):252-4.
No abstract available.
PMID: 10364540 [PubMed - indexed for MEDLINE]

14: Zoeller RF, Ryan ED, Gordish-Dressman H,
Price TB, Seip RL, Angelopoulos TJ, Moyna NM,
Gordon PM, Thompson PD, Hoffman EP.
Allometric scaling of isometric biceps strength
in adult females and the effect of body mass
index.
Eur J Appl Physiol. 2008 Jul 22. [Epub ahead
of print]
PMID: 18648848 [PubMed - as supplied by
publisher]

15: Pistilli EE, Devaney JM, Gordish-Dressman H,
Bradbury MK, Seip RL, Thompson PD,
Angelopoulos TJ, Clarkson PM, Moyna NM,
Pescatello LS, Visich PS, Zoeller RF,Gordon PM,
Hoffman EP.
Interleukin-15 and interleukin-15R alpha SNPs
and associations with muscle, bone, and predictors
of the metabolic syndrome.
Cytokine. 2008 Jul;43(1):45-53.
Epub 2008 Jun 2.
PMID: 18514540 [PubMed - indexed for MEDLINE]

16: Spurney CF, Knoblach S, Pistilli EE,
Nagaraju K, Martin GR, Hoffman EP.
Dystrophin-deficient cardiomyopathy in mouse:
expression of Nox4 and Lox are associated with
fibrosis and altered functional parameters in the
heart.
Neuromuscul Disord. 2008 May;18(5):371-81.
Epub 2008 Apr 25.
PMID: 18440230 [PubMed - indexed for MEDLINE]

17: Kesari A, Pirra LN, Bremadesam L, McIntyre O,
Gordon E, Dubrovsky AL, Viswanathan V,
Hoffman EP.
Integrated DNA, cDNA, and protein studies in
Becker muscular dystrophy show high exception
to the reading frame rule.
Hum Mutat. 2008 May;29(5):728-37.
PMID: 18348289 [PubMed - indexed for MEDLINE]

18: Nagaraju K, Rawat R, Veszelovszky E,
Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P,
Hoffman EP.
Dysferlin deficiency enhances monocyte
phagocytosis: a model for the inflammatory onset
of limb-girdle muscular dystrophy 2B.
Am J Pathol. 2008 Mar;172(3):774-85.
Epub 2008 Feb 14.
PMID: 18276788 [PubMed - indexed for MEDLINE]

19: Hoffman EP.
Skipping toward personalized molecular medicine.
N Engl J Med. 2007 Dec 27;357(26):2719-22.
PMID: 18160693

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