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.

Professor Datin Dr Norlinah Mohamed Ibrahim

MBBCh,BAO (Ireland), BMedSci, MRCPI, AM

UKM Medical Center

Professor Dr Norlinah Mohamed Ibrahim is a senior consultant Neurologist and Professor of Neurology, specializing in movement disorders at the UKM Medical Center. She graduated from University College Dublin, Ireland in 1997 with Honours and obtained her membership of the RCPI in 1999. In 2001, she joined UKM as a lecturer, and later promoted to Associate professor in 2007 and Professor in 2011. Between 2006 and 2007, Dr Norlinah completed a one-year intensive Fellowship in movement disorders and Parkinson’s disease at the Institute of Neurology, Queen Square, London under the supervisions of Prof Niall Quinn and Prof Kailash Bhatia. She was the Head of Neurology Unit from 2007-2011 and later became the Head of Department of Medicine, Faculty of Medicine, UKM from 2011-2016. Dr Norlinah was also the First Chair of the Movement Disorder Council of Malaysia (2010-2014), an affiliate of the International Movement Disorders Society. She was the Chairperson for Stroke Intervention Programme at UKMMC from 2006-2014, which won a Quality Improvement Award from the university in 2013. She is the recipient of High Impact Grant from UKM in 2012 and 2019, Research Award from the Faculty of Medicine (2016), UKM and Anugerah Bitara, UKM (2016) for outstanding contribution to research and publications. She was the recipient of the Distinguished Graduate Award by the Medical Graduate Alumni of University College Dublin for the year 2018. She has received Excellence Service Awards from the Faculty of Medicine in 2010 and 2019. She currently serves a Steering Committee member for Lancet -WHO for Stroke in Low to Middle Income Countries and has been involved in Stroke Riskometer research in Malaysia. She is an active researcher and have published many papers pertaining to neurological diseases particularly related to movement disorders, ataxia, Parkinson’s disease and stroke. Her current interest is in Ataxia, Movement Disorders, Parkinson’s disease and Stroke.

Publications

Amini, E., Golpich, M., Farjam, A. S., Kamalidehghan, B., Mohamed, Z., Ibrahim, N. M., Ahmadiani, A. & Raymond AA, Brain lipopolysaccharide preconditioning-induced gene reprogramming mediates a tolerance state in electroconvulsive shock model of epilepsy. Frontiers in Pharmacology, 2018, 9 May: 416

Mohamed Ibrahim, N., Ramli, R., Koya Kutty, S. & Shah, S. A Earlier onset of motor complications in Parkinson’s patients with comorbid diabetes mellitus. Movement Disorders 2018;33:1967-1968

Global, regional, and national burden of Parkinson’s disease, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016. GBD 2016 Parkinson’s Disease Collaborators. The Lancet Neurology 2018. 17: (11):939-953

Nor Aslina Abdul Samat, Nor Azian Abdul Murad, Khairiyah Mohamad, Abdul Razak, Mohd Ridhwan, Rahman Jamal, Norlinah Mohamed Ibrahim. Apolipoprotein EƐ4: A biomarker for executive dysfunction among Parkinson’s disease patients with mild cognitive impairment. Frontiers in Neuroscience 2017;11, 712

Nor Azian Abdul Murad, Ahmad Rasyadan Arshad, Siti Aishah Sulaiman, Amalia Afzan Saperi, Rahman Jamal, Norlinah Mohamed Ibrahim. MicroRNAs and target genes as biomarkers for the diagnosis of early onset of Parkinson Disease. Frontiers in molecular neuroscience 2017; 10, 352

Mojtaba Golpich, Elham Amini, Zahurin Mohamed, Raymond Azman Ali, Norlinah Mohamed Ibrahim, Abolhassan Ahmadiani. Mitochondrial dysfunction and biogenesis in neurodegenerative diseases: pathogenesis and treatment. CNS neuroscience & therapeutics 2017; 23 (1), 5-22

VL Feigin, R Krishnamurthi, R Bhattacharjee, P Parmar, et al. New strategy to reduce the global burden of stroke. Stroke 2015; 46 (6), 1740-1747E

Hasriza Hashim, Shahrul Azmin, Hamizah Razlan, Nafisah Wan Yahya, Hui Jan Tan, M Rizal Abdul Manaf, Norlinah Mohamed Ibrahim. Eradication of Helicobacter pylori infection improves levodopa action, clinical symptoms and quality of life in patients with Parkinson’s disease. PLoS One 2014. Vol 9 (11), e1123307.

Sahathevan, R., Mohd Ali, K., Ellery, F., Mohamad, N. F., Hamdan, N., Mohd Ibrahim, Cumming, T. B. (2014). A Bahasa Malaysia version of the Montreal Cognitive Assessment: Validation in stroke. International Psychogeriatrics, 26(5), 781-786. DOI: 10.1017/S1041610213002615

10. Fatemeh Hemmati; Rasoul Ghasemi; Norlinah Mohamed Ibrahim; Leila Dargahi; Zahurin Mohamed; Azman Ali Raymond; Abolhassan Ahmadiani. Crosstalk Between Insulin and Toll-like Receptor Signaling Pathways in the Central Nervous system. Molecular Neurobiology. 2014:1-14(Q1)

Major Grants

Dana Impak Perdana, UKM – 2012 – RM 300,000 – Genetics of Parkinson’s Disease and Autologous Mesenchymal Stem Cells in Stroke (Cytopeutics sdn Bhd)
Dana Lonjakan Penerbitan, UKM 2011 – RM 100,000 on Glucocerebrosidase mutation(GBA) in Parkinson’s disease
International Clinical Trial on Pramipexole ER in Early Parkinson’s Disease (Boehringer Ingelheim 2008-2010)
ROCKET AF – International Clinical Trial on Rivoraxaban in Atrial Fibrillation (2008-2011)
Industry Grant – Crobes Pharmaceutical – Randomised Controlled Trial on Probiotics in Parkinson’s Disease 2018
Dana Impak Penyelidikan, UKM 2019 – RM 100,000 on Oral Trehalose in Spinocerebellar Ataxia 3