Objectives of SDC
SDC main objectives are:
- To conduct translational research in IEM, rare inherited genetic diseases, and clinical endocrinology.
- To perform Research and Development (R&D) for new laboratory methods based on the clinical and medical needs for clinical genetics, metabolic and clinical endocrinology.
- To supports the chemical pathology service of the country as the national referral centre for comprehensive confirmatory laboratory testing of inborn errors of metabolism (IEM) and rare genetic diseases.
- To deliver training on laboratory methods in specialised biochemistry and molecular genetics to local or international undergraduate and postgraduate students.
- To provide consultation to scientists/clinical specialists on special protein analysis, biochemical genetic, endocrine clinical diagnostics, and molecular diagnostics for rare genetic disorders.
Strategic Plans
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Metabolomics for biomarkers |
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Next Generation Sequencing |
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Endocrine rare diseases |
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Porphyria disorders (Erythropoietic type) |
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Achievements
Reference Centre for Laboratory Diagnosis of IEM:
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Biochemical Genetic Testing |
- Acute Intermittent Porphyria - Variegate Porphyria - Hereditary Coproporphyria |
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Reference Centre for Molecular Genetics |
- Disorders of amino acid & organic acids metabolism - Fatty acid oxidation defects - Disorders of carbohydrate metabolism - Lysosomal storage diseases - Disorders of purine & pyrimidine - Other metabolic disorders |
- MELAS - Leigh Syndrome - MERRF - NARP - Mitochondrial depletion syndromes - Mitochondrial deletion syndromes - POLG-related disorders - Other mitochondrial-related disorders |
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- Spinal Muscular Atrophy (SMA) - Spinocerebellar Ataxia (Type 1,2,3,6,7) - SCN1A-related seizures disorders - Friedreich Ataxia - Others |
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- Angelman Syndrome - Prader-Willi Syndrome - Fragile-X Syndrome - Noonan Syndrome - Allagile Syndrome - Others |
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- Retinoblastoma - PTEN-related Disorders - FGFR3-related Disorders - FGFR2-related Disorders - Myotonic Dystrophy Type 1 - Mucopolysaccharidosis - Others |
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Reference Laboratory for Specific Proteins |
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Activities in SDC
1. Research
Main research areas in SDC are:
- Inborn errors of metabolism (IEM)
- Rare inherited genetic diseases
- Clinical endocrinology
- Other non-communicable diseases.
2. Transfer of Technology
- Contribution in training for the development of another laboratory center.
- Biochemical Genetic Laboratory, Genetic Department HKL.
- Inborn Error of Metabolic Laboratory, University Malaya Medical Centre (UMMC).
- Biochemical Genetic Laboratory, Aga Khan University, Pakistan.
3. Specialized tests
- Translational research had resulted in the development of a comprehensive specialized tests in inborn errors of metabolism, specialized protein tests, specialized endocrine tests, and molecular genetic tests.
- A total of 215 tests including screening and confirmatory tests was developed through continuous research & development over the years.
- Biochemistry Unit & Special Protein Unit had achieved ISO 15189 accreditation since 2014 and Molecular Diagnostic Unit in 2016.
- Highest revenue for IMR is from diagnostics.
4. Innovations
Innovation of web Specimen Information System (SMIS)
- in use in all KKM hospitals/Klinik Kesihatan
- in use in private hospitals/clinics
- oversea clients: Indonesia, Brunei, etc
5. Training Centre
Training Centre for Postgraduate & Subspecialty trainings
- Master in Pathology- Chemical Pathology & Genetic Pathology
- Subspecialty Chemical Pathology (Paediatric Biochemistry)
- Subspecialty Paediatric (Clinical Haematology & Genetics
