The Study of Drugs for Rare Disorders: Harnessing Research Contributions by Canadian Academic Institutions
Main Article Content
Keywords
University research, academic, rare disorders, pharmacogenomics, clinical trials, implementation science
Abstract
Genetic research in Canadian universities is in the midst of a revolution brought about by new technologies that have led in the past five years to astonishing increases in DNA sequencing capacity at a reduction of per - nucleotide cost of many thousand fold . 1 These and other developments are producing an improved understanding of the genetic landscape of the cell , 2 and increased insight into the interplay of genetic and environmental factors. These are often manifested in epigenetic changes, which can now also be monitored using high - throughput techniques , 3 and which regulate physiologic and pharmacologic processes. Continued progress in the academic setting is critical if Canada is to meet its share of research responsibilities and to use this improved scientific understanding to support optimal patient care.
References
1. National Human Genome Research Institute. DNA Sequencing Costs . Data from the NHGRI Genome Sequencing Program (GSP) 16 July 2013 http://www.genome.gov/sequencingcosts/ (September 2, 2013)
2. Costanzo M, B aryshnikova A, Bellamy J , et al. The genetic landscape of a cell. Science 2010;327:425 - 31.
3. Cressman AM, Piquette - Miller M. Epigenetics: A new link towards understanding of human disease and drug response. Clin Pharm Ther 2012;92:669 - 73.
4. Lee DK, Wong B. An Orphan Drug Framework (ODF) for Canada . J Popul Ther Clin Pharmacol 2014; Vol 21(1):e42 - e46 .
5. MacLeod SM. Developing better medicines for children: Addressing international priorities. Ann Pharmaceut Rev 2012;15:74 - 80.
6. Coles LD, Cloyd JC. The role of academi c institutions in the development of drugs for rare and neglected diseases. Clin Pharm Ther 2012;92:193 - 202.
7. Sachs HC and Committee on Drugs. Transfer of drugs and therapeutics into human breast milk: An update on selected topics. Pediatrics. Published on line August 26, 2013. DOI: 10.1542/peds.2013 - 1985
8. Canadian Institutes for Health Research. Strategy for patient - oriented research. http://www.cihr - irsc.gc.ca/e/41204.html (September 2, 2013)
9. Azie N, Vincent J. Rare diseases: The bane of modern society and the quest for cures. Clin Pharm Ther 2012;92:135 - 9.
10. Hudson I, Breckenridge A. The challenges of orphan drugs and orphan diseases: Real and imagined. Clin Pharm Ther 2012;92:151 - 3.
11. United States F ood and Drug Administration. Orphan Drug Act. http://www.ecfr.gov/cgi - bin/textidx?c=ecfr&SID=51cf70689d51f0ea414 7c0 a8ac649321&rgn=div5&view=text&node=2 1:5.0.1.1.6&idno=21 (September 2, 2013)
12. United States Food and Drug Administration. Rare diseases act of 2002 (public law 107 - 280). http://history.nih.gov/research/downloads/PL107 - 280.pdf (September 2, 2013)
13. Health Canada Office of Legislative and Regulatory Modernization. Initial draft discussion document for a Canadian orphan drug regulatory framework (September 13, 2012) http://www.raredisorders.ca/documents/Regulat oryFrameworkDraft.Dec2012copy.pdf (September 2, 2013)
14. Rx&D, CIHR, ACAHO. Towards health and prosperity. An update on an action plan to help attract more clinical trials to Canada. A first year communique on progress since the clinical trials summit. December 2012. http://www.canadapharma.org/CMFiles/Our%20 Industry/Canadian%20Clinical%20Trial%20Su mmit/2012CTSummitCommunique_EN.pdf (September 2, 2013)
15. MacLeod SM. A Canadian quest for optimal drug prescribing: 40 years on. J Popul Ther Clin Pharmacol 20 12;19:e111 - 2.
16. Straus SE, Tetroe J, Graham ID et al. Monitoring use of knowledge and evaluating outcomes. Can Med Assoc J 2010;182e94 - 8.
17. Standing Senate Committee on Social Affairs, Science and Technology. Canada’s clinical trial infrastructure. A prescription of improved access to new medicines. November 1, 2012. http://www.parl.gc.ca/Content/SEN/Committee/ 411/soci/dpk/01nov12/home - e.htm (September 2, 2013 )
18. Soon JA, MacLeod SM, Sharma S, Wiens MO. Human resource and educational inventories to support the life cycle approach to the regulation of therapeutic product. Health Canada report March 2010. http://www.hc - sc.gc.ca/ahc - asc/pubs/hpfb - dgpsa/reshum - eng.php (September 2, 2013)
19. Abrahamyam L, Diamond IR, Johnson SR, Feldman BM. Clinical trials in rare disorders: Considering a new toolkit for developing evidence based treatment. J Po p ul Ther Clin Pharmacol 2014; Vol 21(1):e 66 - e7 8.
20. Stewart DJ, Batist G. Redefining cancer: a new paradigm for better and faster treatment innovation. J Popul Ther Clin Pharmacol 2014; Vol 21(1):e56 - e6 5 .
21. He YJ, McLeod HL. Ready when you are: Easing into preemptive pharmacogenetics. Clin Pharm Ther 2012;92:412 - 4.
22. Whirl - Carillo M, McDonagh RM, Hebert JM , et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharm Ther 2012;92:414 - 7.
23. The Standin g Senate Committee on Social Affairs, Science and Technology. Prescription pharmaceuticals in Canada: Post approval monitoring of safety and effectiveness. Report March 2013. http://www.parl.gc.ca/Content/SEN/Committee/ 411/SOCI/DPK/01mar13/home.htm (September 2, 2013)
24. Canadian Institutes for Health Research Drug Safety and Effectiveness Netw ork. http://www.cihr - irsc.gc.ca/e/40269.html (September 2, 2013)
25. Canadian Institutes for Health Research. Personalized Medicine http://www.cihr - irsc.gc.ca/e/43627.html (September 2, 2013)
26. Schildcrout JS, Denny JC, Bowton E. Optimizing drug outcomes through pharmaco genetics: A case for preemptive genotyping. Clin Pharm Ther 2012;92:235 - 42.
27. Daniels N , Sabin JE. Accountability for reasonableness: an update. BMJ 2008;337:1850
28. Government of Canada. Networks of Centres of Excellence. http://www.nce - rce.gc.ca/index_eng.asp (September 7 , 2013)
29. Canadian F oundation for Innovation. http://www.innovation.ca/ (September 7, 2013)
30. Centres of Excellence for Commercialization and Research (CERC) http://www.nce - rce.gc.ca/ReportsPublications - RapportsPublications/CECR/Program - Guide - Programme_eng.asp (September 7, 2013)
31. orphaNet. Canada national website. http://www.orpha.net/national/CA - EN/index/homepage/ (September 7, 2013)
32. International Rare Diseases Research Consortium. http://www.irdirc.org/ (Septem ber 7, 2013)
33. ERACan. The European research area and Canada. Promoting Canada - EU research. http://www.era - can.ca/en/Canadians - In - Fp7_37 (September 9, 2013)
34. Care for Rare. http://care4rare.ca/ (October 24, 2013)
2. Costanzo M, B aryshnikova A, Bellamy J , et al. The genetic landscape of a cell. Science 2010;327:425 - 31.
3. Cressman AM, Piquette - Miller M. Epigenetics: A new link towards understanding of human disease and drug response. Clin Pharm Ther 2012;92:669 - 73.
4. Lee DK, Wong B. An Orphan Drug Framework (ODF) for Canada . J Popul Ther Clin Pharmacol 2014; Vol 21(1):e42 - e46 .
5. MacLeod SM. Developing better medicines for children: Addressing international priorities. Ann Pharmaceut Rev 2012;15:74 - 80.
6. Coles LD, Cloyd JC. The role of academi c institutions in the development of drugs for rare and neglected diseases. Clin Pharm Ther 2012;92:193 - 202.
7. Sachs HC and Committee on Drugs. Transfer of drugs and therapeutics into human breast milk: An update on selected topics. Pediatrics. Published on line August 26, 2013. DOI: 10.1542/peds.2013 - 1985
8. Canadian Institutes for Health Research. Strategy for patient - oriented research. http://www.cihr - irsc.gc.ca/e/41204.html (September 2, 2013)
9. Azie N, Vincent J. Rare diseases: The bane of modern society and the quest for cures. Clin Pharm Ther 2012;92:135 - 9.
10. Hudson I, Breckenridge A. The challenges of orphan drugs and orphan diseases: Real and imagined. Clin Pharm Ther 2012;92:151 - 3.
11. United States F ood and Drug Administration. Orphan Drug Act. http://www.ecfr.gov/cgi - bin/textidx?c=ecfr&SID=51cf70689d51f0ea414 7c0 a8ac649321&rgn=div5&view=text&node=2 1:5.0.1.1.6&idno=21 (September 2, 2013)
12. United States Food and Drug Administration. Rare diseases act of 2002 (public law 107 - 280). http://history.nih.gov/research/downloads/PL107 - 280.pdf (September 2, 2013)
13. Health Canada Office of Legislative and Regulatory Modernization. Initial draft discussion document for a Canadian orphan drug regulatory framework (September 13, 2012) http://www.raredisorders.ca/documents/Regulat oryFrameworkDraft.Dec2012copy.pdf (September 2, 2013)
14. Rx&D, CIHR, ACAHO. Towards health and prosperity. An update on an action plan to help attract more clinical trials to Canada. A first year communique on progress since the clinical trials summit. December 2012. http://www.canadapharma.org/CMFiles/Our%20 Industry/Canadian%20Clinical%20Trial%20Su mmit/2012CTSummitCommunique_EN.pdf (September 2, 2013)
15. MacLeod SM. A Canadian quest for optimal drug prescribing: 40 years on. J Popul Ther Clin Pharmacol 20 12;19:e111 - 2.
16. Straus SE, Tetroe J, Graham ID et al. Monitoring use of knowledge and evaluating outcomes. Can Med Assoc J 2010;182e94 - 8.
17. Standing Senate Committee on Social Affairs, Science and Technology. Canada’s clinical trial infrastructure. A prescription of improved access to new medicines. November 1, 2012. http://www.parl.gc.ca/Content/SEN/Committee/ 411/soci/dpk/01nov12/home - e.htm (September 2, 2013 )
18. Soon JA, MacLeod SM, Sharma S, Wiens MO. Human resource and educational inventories to support the life cycle approach to the regulation of therapeutic product. Health Canada report March 2010. http://www.hc - sc.gc.ca/ahc - asc/pubs/hpfb - dgpsa/reshum - eng.php (September 2, 2013)
19. Abrahamyam L, Diamond IR, Johnson SR, Feldman BM. Clinical trials in rare disorders: Considering a new toolkit for developing evidence based treatment. J Po p ul Ther Clin Pharmacol 2014; Vol 21(1):e 66 - e7 8.
20. Stewart DJ, Batist G. Redefining cancer: a new paradigm for better and faster treatment innovation. J Popul Ther Clin Pharmacol 2014; Vol 21(1):e56 - e6 5 .
21. He YJ, McLeod HL. Ready when you are: Easing into preemptive pharmacogenetics. Clin Pharm Ther 2012;92:412 - 4.
22. Whirl - Carillo M, McDonagh RM, Hebert JM , et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharm Ther 2012;92:414 - 7.
23. The Standin g Senate Committee on Social Affairs, Science and Technology. Prescription pharmaceuticals in Canada: Post approval monitoring of safety and effectiveness. Report March 2013. http://www.parl.gc.ca/Content/SEN/Committee/ 411/SOCI/DPK/01mar13/home.htm (September 2, 2013)
24. Canadian Institutes for Health Research Drug Safety and Effectiveness Netw ork. http://www.cihr - irsc.gc.ca/e/40269.html (September 2, 2013)
25. Canadian Institutes for Health Research. Personalized Medicine http://www.cihr - irsc.gc.ca/e/43627.html (September 2, 2013)
26. Schildcrout JS, Denny JC, Bowton E. Optimizing drug outcomes through pharmaco genetics: A case for preemptive genotyping. Clin Pharm Ther 2012;92:235 - 42.
27. Daniels N , Sabin JE. Accountability for reasonableness: an update. BMJ 2008;337:1850
28. Government of Canada. Networks of Centres of Excellence. http://www.nce - rce.gc.ca/index_eng.asp (September 7 , 2013)
29. Canadian F oundation for Innovation. http://www.innovation.ca/ (September 7, 2013)
30. Centres of Excellence for Commercialization and Research (CERC) http://www.nce - rce.gc.ca/ReportsPublications - RapportsPublications/CECR/Program - Guide - Programme_eng.asp (September 7, 2013)
31. orphaNet. Canada national website. http://www.orpha.net/national/CA - EN/index/homepage/ (September 7, 2013)
32. International Rare Diseases Research Consortium. http://www.irdirc.org/ (Septem ber 7, 2013)
33. ERACan. The European research area and Canada. Promoting Canada - EU research. http://www.era - can.ca/en/Canadians - In - Fp7_37 (September 9, 2013)
34. Care for Rare. http://care4rare.ca/ (October 24, 2013)