Rare Disease Champions

There are many individuals and NGO’s has been tirelessly supporting and voicing out needs for Malaysia Rare Disease communities for past many years. This is only a starter list, will grow as we update this page.

Malaysian Rare Disorders Society (MRDS) is a voluntary organisation set-up to represent and look out for the welfare of individuals including their families that are affected by rare disorders.

Malaysia Lysosomal Diseases Association (MLDA) is a non profit organization to advocate for patients’ right and educate general people about variuos life threatening lysosomal storage diseases (LSD).

WeCareJourney is dedicated to the treatment of spinal muscular atrophy (SMA), the number one genetic cause of death for infants. An SMA diagnosis can be overwhelming, and we give patients and families the information and resources they need to live active, engaged, and hopeful lives today. We are committed to respecting and fostering diversity and inclusion in the people we help.

Malaysia Metabolic Society (MMS) is a volunteer non-profit organization whose mission is to empower families and general public with knowledge in inborn errors of metabolism (IEM). We are committed to increase public awareness about IEM in Malaysia, and to improve the Malaysia and quality of life of the patients affected by IEM in Malaysia.

The Institute for Democracy and Economic Affairs (IDEAS) is a nonprofit research institute based in Malaysia dedicated to promoting solutions to public policy challenges.

Make It Right Movement (MIRM) is a CSR initiative by Brickfields Asia College (BAC) that aims to create a sustained positive impact on society by championing community causes both locally and globally.

The Galen Centre for Health and Social Policy promotes and advocates public debate and education on ideas and proposals which support individual freedom, choice, and innovation in the health and social sectors.

On social media (Facebook)

Malaysian Acromegaly Society

Persatuan Sindrom Prader - Willi Malaysia

Pertubuhan Kebajikan Pesakit Ichthyosis Malaysia

Spinal Muscular Atrophy Malaysia

Pertubuhan Kebangsaan Orang Kerdil Malaysia

KLSAA (Kuala Lumpur and Selangor Albinism Association)

Persatuan Penyakit Motor Neuron Malaysia (MND Malaysia)

Persatuan Pesakit Imunodifisiensi Primer Malaysia

RETT Syndrome Malaysia

Persatuan Pesakit Hydrocephalus Malaysia

Multiple Sclerosis Society Malaysia

Penang Of Multiple Sclerosis Support Group Association

Dr Ngu Lock Hock

Consultant Clinical Geneticist & Paediatrician
Clinical Lead in Inherited Metabolic Diseases
Genetics Department, Hospital Kuala Lumpur, Malaysia

Dr Ngu Lock Hock, MBBS (Malaysia), MRCP (UK), is a Consultant Clinical Geneticist & Paediatrician and the Clinical Lead in Inherited Metabolic Diseases at the Genetics Department of Hospital Kuala Lumpur which serves as the national referral centre for inherited metabolic diseases and genetic disorders in Malaysia.

After graduating from University of Malaya Medical School in 1997, Dr Ngu received training in general paediatrics and obtained the Membership of the Royal College of Physicians (UK) in 2000. He then joined the Clinical Genetics Fellowship Programme at the Hospital Kuala Lumpur 2002. As part of his training, he has also spent one year at Nijmegen Centre for Metabolic and Mitochondrial Disorders, the Netherlands.

Dr Ngu is the medical advisor for the Malaysia Lysosomal Diseases Association, a support group for Lysosomal disorders. He has published 50 manuscripts in peer-reviewed journal in the field of genetics and inherited metabolic diseases including the Journal of Inherited metabolic Disease and Journal of Medical Genetics. He has been an invited speaker at over 100 local and international events and has presented over 50 free papers since 2003. He has been an invited reviewer for international journals such as Molecular Genetics and Metabolism and Clinical Genetics. He is a member of the Malaysia Ministry of Health’s Technical Committee on Enzyme Replacement Therapy for Lysosomal Storage Disorders and the Expert Committee on Orphan Drugs, and Asia Pacific MPS Network. He is the principal investigator at Hospital Kuala Lumpur for a number of clinical studies and is the current Chairman of Hospital Kuala Lumpur Research Review Committee.

Prof Thong Meow Keong

Professor of Paediatrics and
Consultant Clinical Geneticist
University of Malaya Medical Centre

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).

Prof Asrul Akmal Shafie BPharm

Associate Professor of Social & Administrative Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia

Asrul A Shafie is an Associate Professor of Health Economics in Universiti Sains Malaysia and Adjunct Associate Professor in Monash University. He is the recipient of ISPOR International Fellowship and Malaysia Cancer Research Award. His research interests are in economic evaluation and health technology assessment where he has published more than 300 peer reviewed journal articles/abstracts (H-Index 29) in various international journals and seven books/monographs. He is also the co-author of the Malaysia Pharmacoeconomic Guidelines and ISPOR Code of Ethics. He is the principle investigator for Malaysia cost effectiveness threshold determination study, EQ5D5L valuation study, and access to orphan drug study. He is the Editor-in-Chief for the Malaysian Journal of Pharmacy, and member of editorial board for Pharmacoeconomics, BMC Cost Effectiveness and Resource Allocation and Value in Health Asian Region journal. He is the chair for the Malaysia Technical Advisory Committee for Health Technologies Economic Evaluation (TaCHTEE), and an appointed expert member for the UK National Institute for Health Research Committee, Vaccine Optimization and Implementation International Committee of Expert, Malaysia Oncology Drug Access Advisory Board, Malaysia National Medicine Policy Steering Committee, and HTAsiaLink Network.

Dr. Azlina Ahmad Annuar

BSc Neuroscience
University College London; PhD Neurogenetics,
Imperial College London

Dr. Azlina Ahmad Annuar 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.