Challenges and Recommendations

Prof Thong Meow Keong

is a Professor of Paediatrics and Consultant Clinical Geneticist at the University of Malaya Medical Centre. He was a Fulbright scholar and an Australasian board-certified clinical geneticist. He established the first Genetics Clinic in 1995 and the Genetics & Metabolism Unit at the Department of Paediatrics, Faculty of Medicine, University of Malaya. He has published extensively on rare diseases and inherited conditions in Malaysia with nearly 90 peer-reviewed journal papers, authored 6 books and monographs and 10 book chapters including one in the Oxford Monograph in Medical Genetics and presented over 150 conference proceedings. He collaborated with global institutions and won numerous research awards. He worked with the Ministry of Health Malaysia in developing a genetic counselling module for thalassemia and involved in various educational, technical or guideline committees on inherited disorders / rare diseases. He was invited by the World Health Organization to help prepare a monograph on“Management of Birth Defects and Haemoglobin Disorders”. He is the current President of the College of Paediatrics, Academy of Medicine of Malaysia; Chair of the Clinical Genetics subspecialty, National Specialist Register,Vice-President of the Medical Genetics Society of Malaysia and Advisor to the Malaysian Rare Disorders Society. He was the Head of the Department of Paediatrics, University of Malaya from 2009-2011 and the past President of the Asia-Pacific Society of Human Genetics (2012-2015).

Dr. Azlina Ahmad Annuar

(BSc Neuroscience – University College London; PhD Neurogenetics -Imperial College London) is a senior lecturer at the Department of Biomedical Science, Faculty of Medicine, University of Malaya. Her research interests are on the neurosciences and the genetics of neurological diseases, some of which fall within the rare disease category. She runs a number of community-based activities like the annual Brain Awareness Week, and the Jeans for Genes Malaysia campaign which works closely with patient support groups to help raise awareness about genetic disorders.

References

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EURORDIS. 2009. “What is a Rare Disease?” Accessed April 8, 2018. http://www.eurordis.org/content/what-ra-re-disease. Accessed April 8th 2018.

Gammie,Todd, ChristineY. Lu, and Zaheer Ud-Din Babar.“Access to Orphan Drugs:A Comprehensive Re- view of Legislations, Regulations and Policies in 35 Countries.” PLoS ONE 10. https://doi.org/10.1371/journa.pone.0140002

Hunter, Nina L., Gayatri R. Rao and Rachel E. Sherman. 2017.“Flexibility in the FDA Approach to Orphan Drug Development.” Nat. Rev. Drug Discov. 16, 737-738. https://doi.org/10.1038/nrd.2017.151

Malaysia Rare Disorders Society, and Malaysian Lysosomal Diseases Association and Malaysian Metabolic Soci- ety.“Conference Report on Developing Strategies for a National Rare Disease Plan.” Second Malaysia Confer- ence on Rare Disorders. October 25-26, 2013.

Ministry of Health Malaysia. 2016.“National Strategic Plan for Non-Communicable Disease (NSP-NCD) 2016- 2015.” http://www.moh.gov.my/english.php/pages/view/698

 

CremeMinistry of Health Malaysia. 2017.“HealthTechnology Assessment: Enzyme ReplacementTherapy for Metabolic Diseases.” http://www.moh.gov.my/update2017/1466.pdf

NSTTeam. 2017.“RM27 Billion to Further Enhance Quality of Health Services.”The New StraitsTimes, 27th Oct 2017. https://www.nst.com.my/news/nation/2017/10/295840/rm27-billion-further-enhance-quali- ty-health-services.

Pharmaceutical Research and Manufacturers of America (PhRMA). 2015. “2005 – 2015: A Decade of Innovation in Rare Diseases.” https://www.phrma.org/report/2005-2015-a-decade-of-innovation-in-rare-diseases

Right Diagnosis from Healthgrades. 2015.“Statistics by Country for Rare Diseases.”Accessed 23 September 2018. http://www.rightdiagnosis.com/r/rare_diseases/stats-country.htm.

Shafie,Arsul Akmal,Azuwana Supian, andThong Meow Keong.“Taking Stock of Rare Disease.”The Star, March 1, 2017. https://www.thestar.com.my/opinion/letters/2018/03/01/taking-stock-of-rare-disease/