The future is now for rare genetic diseases

CMAJ. Canadian Medical Association Journal

Volumn 184, Issue 14, 2012, Pages 1603-

  MacKenzie, Alex ^a   Boycott, Kym M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CANADA; CYSTIC FIBROSIS; DIAGNOSTIC TEST; DISEASE COURSE; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENOMICS; HUMAN; LETTER; MEDICAL HISTORY; PROGNOSIS; SPINAL MUSCULAR ATROPHY;

EID: 84867152644     PISSN: 08203946     EISSN: 14882329     Source Type: Journal    
DOI: 10.1503/cmaj.112-2069     Document Type: Letter

References (5)

1. Collier R. Popping the genetics bubble. CMAJ 2012; 184:637-63.
2. Fundraising tool kit. Toronto (ON): Canadian Organization for Rare Disorders. Available: www.raredisorders.ca/documents/CORDFundraisingToolKit.pdf (accessed 2012 June 21).
3. Finding of Rare Disease Genes Project. Ottawa (ON): Canadian Pediatric Genetic Disorders Sequencing Consortium; 2010. Available: www.cpgdsconsortium. com/ (accessed 2012 June 21).
4. Samuels M. Saturation of the human phenome. Current Genomics 2010;11:482-99.
5. Beaulieu CL, Samuels ME, Ekins S, et al. A generalizable pre-clinical research approach for orphan disease therapy. Orphanet J Rare Dis 2012;7:39.