Ronald Cohn , MD, FACMG
The Hospital for Sick Children
Chief, Clinical and Metabolic Genetics
Clinical and Metabolic Genetics
Women's Auxilliary Chief
Clinical and Metabolic Genetics
University of Toronto
Phone: (416) 813-7654 Ext. 228780
Fax: (416) 813-5345
Ronald Cohn joined The Hospital for Sick Children as the Chief of the Division of Clinical and Metabolic Genetics, Co-Director of the Centre for Genetic Medicine and Senior Scientist in September 2012. He also became the Inaugural Women’s Auxiliary Chair in Clinical and Metabolic Genetics in April of 2013, as well as joining the department of Molecular Genetics at the University of Toronto.
He received his medical degree from the University of Essen, Germany. After his postdoctoral fellowship at the Howard Hughes Medical Institute in the laboratory of Dr. Kevin Campbell, he moved to Baltimore where he was the first combined resident in paediatrics and genetics at the Johns Hopkins University. He subsequently joined the faculty of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins where he became the director of the worlds' first multidisciplinary centre for Hypotonia, which has earned national and international recognition. The centre focused on identifying, supporting and treating patients with various conditions associated with hypotonia with the goal to directly combine clinical experience and basic research efforts to ensure that the clinical approach to and therapy for the patient will be tailored to his/her individual needs. He will continue his work in this area at The Hospital for Sick Children in Toronto. As well, in July of 2013, The Centre for Genetic Medicine launched the Genome Clinic, focusing on genetics research and discovery in the years to come.
He was also the director of the medical genetics residency program at Johns Hopkins. He received numerous awards including the David M. Kamsler Award for outstanding compassionate and expert care of pediatric patients, 2004, First Annual Harvard-Partners Center for Genetics and Genomics Award in Medical, 2006 and the NIH Young Innovator Award, 2008.
- Maintenance of muscle mass in inherited and acquired muscle disorders
- Molecular mechanisms of muscle regeneration and fibrosis
- Hypotonia with a particular focus on muscle and connective tissue disorders
- Translating next generation sequencing into daily clinical diagnostics and management
Research in Cohn’s laboratory focuses on the biology of muscle regeneration as it relates to various inherited and acquired myopathic states with a particular interest in muscular dystrophies. More recently, he used a novel approach to understand the mechanisms of maintaining muscle mass and regeneration, by studying hibernating ground squirrels. Hibernating mammals have evolved mechanisms to survive prolonged immobility without pathologic loss/atrophy of muscle mass. The molecular mechanisms underlying this fascinating phenomenon are largely unknown.
His laboratory is currently for the first time applying knowledge of normal mechanisms of muscle protection in the hibernating mammal to the disease process of disuse muscle atrophy in non-hibernating mammals. This will provide unique insights into the fundamental cellular and molecular pathways underlying skeletal muscle atrophy and the protection against it.
Cohn plans to continue his research activities and ensure that novel genetic technologies will be translated into clinical medicine with the goal of one day making individualized treatment a standard of care for all children.
Cohn RD, Mayer U, Saher G, Herrmann R, Flier A, Sonnenberg A, Sorokin L, Voit T. Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle. J Neurol Sci 1999;163:140-152.
Coral-Vasquez R, Cohn RD*, Moore SA, Hill JA, Weiss RM, Davisson RL, Straub V, Barresi R, Bansal D, Hrstka RF, Williamson R, Campbell KP. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 1999;98:465-474. *co-first author
Durbeej, M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP. Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell 2000;5:141-151.
Franz WM, Mueller M, Herrmann R, Frey N, Cohn RD, Voit T, Katus HA. Association of nonsense mutation of dystrophin with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet 2000;355:1781-1785.
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schroeder JM, Cavallotti D. Vaccario ML, Schaper J, Broich P, Cohn RD, Baethmann M, Gohlich-Ratmann G, Scopetta C, Herrmann R. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord 2001;11:11-19.
Cohn RD, Durbeej M, Moore SA, Prouty S, Coral-Vasquez R, Campbell KP. Prevention of the cardiomyopathic phenotype in genetic mouse models with absence of the smooth muscle sarcoglycan complex. J Clin. Invest. 2001;107:R1-R7.
Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002;418:418-421.
Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002;418:422-425.
Cohn RD , Henry MD, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Swarchuk MW, Robbins ME, Mendell JR, Williamson R, Campbell KP. Disruption of dag1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 2002;110:639-648.
Saito F, Moore SA, Barresi R, Henry MD, Messing A, Ross-Barta SE, Cohn RD, Williamson RA, Sluka KA, Sherman DL, Brophy PJ, Schmelzer JD, Low PA, Wrabetz L, Fletri ML, Campbell KP. Unique role of dystroglycan in peripheral nerve myelination, nodal structure and sodium channel stabilization. Neuron 2003;38:747-758.
Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz, JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP. LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nature Medicine 2004;10:696-703.
Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome Science 2006;312:117-121.
Cohn RD, van Erp C, Habashi JP, Soleimani AA, Klein EC, Lisi MT, Gamrad M, Loeys BL, Holm TM, Judge DP, Ward CW, Dietz HC. Angiotensin II type 1 receptor blockade attenuates TGFβ-induced failure of muscle regeneration in multiple myopathic states. Nature Medicine 2007;13:204-210.
Cohn RD, Liang HY, Shetty R, Abraham T, Wagner KR. Myostatin does not function as a major inhibitory factor in cardiac muscle growth and regeneration. Neuromuscular Disord. 2007;17:290-296.
Cheng TL, Cohn RD, Dover GJ. The genetics revolution and primary care pediatrics. JAMA 2008;299:451-453.
Goo MJ, Ki MR, Lee HR, Yang HJ, Yuan DW, Hong IH, Park JK, Hong KS, Han JY, Hwang OK, Kim DH, Do SH, Cohn RD, Jeong KS. Helicobacter pylori promotes hepatic fibrosis in the animal model. Lab Invest. 2009;89:1291-303.
Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010;25:1559-1581
Finanger Hedderick EL, Simmers JL, Soleimani A, Andres-Mateos E, Marx R, Files DC, King L, Crawford TO, Corse AM, Cohn RD. Loss of sarcolemmal nNOS is a common finding in acquired and inherited neuromuscular disorders. Neurology, 2011;76:960-967
Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay M, Kim D, Schoenhoff F, Cohn RD, Loeys BL, Thomas C, Patnaik S, Marugan J, Judge DP, Dietz HC. Noncanonical TGFb signaling contributes to aortic aneurysm progression in marfan syndrome mice. Science, 2011;6027:358-361.
Burks T, Andres-Mateos E, Van Erp C, Mejías Estévez RM, Marx R, Ward CM, Walston J, Cohn RD. Losartan restores skeletal muscle remodeling and protects against disuse atrophy in sarcopenia. Sci Transl Med, 2011;82:82ra37.
Burks TN, Cohn RD. One size may not fit all: anti-aging therapies and sarcopenia. Aging (Albany NY). 2011 3:1142-1153.
Andres-Mateos E*, Mejias R*, Soleimani A, Lin BM, Burks TN, Marx R, Lin B, Zellars RC, Zhang Y, Huso DL, Marr TG, Leinwand LA, Merriman DK, Cohn RD. Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. PLoS One. PMID: 23155423 [PubMed - in process]
Andres-Mateos E, Brinkmeier H, Burks TN, Mejias R, Files DC, Steinberger M, Soleimani A, Marx R, Simmers JL, Lin B, Finanger Hedderick E, Marr TG, Lin BM, Hourdé C, Leinwand LA, Kuhl D, Föller M, Vogelsang S, Hernandez-Diaz I, Vaughan DK, Alvarez de la Rosa D, Florian Lang F, Cohn RD. Activation of serum/glucocorticoid-induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophy. EMBO Mol Med. 2012 Nov 19. doi: 10.1002/emmm.201201443. [Epub ahead of print] PMID: 23161797 [PubMed - as supplied by publisher
- 2008 NIH Director’s Young Innovator Award
- 2006 Mentored Clinical Investigator Career Development Award in Muscle Disease
- 2006 First Annual Harvard-Partners Center for Genetics and Genomics Award in Medical
- 2006 The Helen B. Taussig Award, 29th Johns Hopkins Young Investigators’ Day
- 2006 Johns Hopkins University Clinician Scientist Award
- 2005 Young Investigator Award at the 7th International Symposium on the Marfa
syndrome, Ghent, Belgium, September 2005
- 2005 Award for best postdoctoral research presentation at the 2nd annual retreat of the
McKusick-Nathans Institute of Genetic Medicine
- 2004 David M. Kamsler Award for outstanding compassionate and expert care of pediatric