Cornelius Boerkoel

Dr. Cornelius Boerkoel received his MD and PhD from Case Western Reserve University. He trained in pediatrics at the University of Washington and in clinical genetics at the University of Toronto. He entered clinical practice in genetics and completed post-doctoral training at the Baylor College of Medicine. In 2006, he joined the faculty at the University of British Columbia where he continued his translational research, collaborated with anthropology and sociology on developing “villages of support” for families with unique disorders, and founded the Rare Disease Foundation. He was appointed director of the research laboratory in the Undiagnosed Diseases Program at the National Institutes of Health (NIH) in 2010.

Boerkoel has identified the genetic basis and the molecular pathophysiology of several disorders and has a strong interest in non-pharmacologic interventions that improve well being. Building on his observations and discoveries at NIH, collaborators and he are pioneering a Personalized Medicine and Target Therapies Program in Vancouver.

Recent Publications

Fam HK, Chowdhury MK, Walton C, Choi K, Boerkoel CF, Hendson G. Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues. J Mol Histol. 2013 Mar 28. [Epub ahead of print] (PubMed abstract)

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. Eur J Hum Genet. 2013 Feb 27. doi: 10.1038/ejhg.2013.20. [Epub ahead of print] (PubMed abstract)

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanovi? R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Staji? N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70. (PubMed abstract)

Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, Dionis KY, Zonana J, Keller K, Stenzel P, Mayfield C, Lücke T, Bokenkamp A, Marra MA, van Lohuizen M, Lewis DB, Shaw C, Boerkoel CF. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012 Jun 1;21(11):2572-87. doi: 10.1093/hmg/dds083. Epub 2012 Feb 28. (PubMed abstract)

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat. 2012 Apr;33(4):614-26. doi: 10.1002/humu.22032. Epub 2012 Feb 28. (PubMed abstract)