Vision


Cluster of Human Genetic becomes a Medical Genetic Research Center in Indonesia equipped with internationally accredited cytogenetic and metabolomics laboratory facilities.

Mission


To Increase research quantity and quality in Medical Genetics based on cytogenetic and metabolic laboratory, functioning as a scientific base for managing patients of Clinical Genetics case.

Ongoing Research

  • Development of Birth Defect Registry System in Indonesia.
  • Developing a Phenotype Database of Patients with Structural Birth Defects Based on Their Dysmorphic Feature.
  • Improving the Resolution of G-Banding Technique to Increase the Sensitivity of Detecting Structural Abnormality.
  • Chromosome Aberration Profile of Patients with Structural Birth Defects Using G-Banding Method.
  • Detection of Copy Number Variation of Birth Defects Using Single Nucleotide Polymorphism Array.
  • Developing a Database of Genetic Etiology of Birth Defect.
  • Gene mutation analysis of the Iduronate-2-Sulfatase (IDS) gene in patients with Mucopolysaccaharidosis (MPS) Type II in Indonesia.
  • Gene mutation analysis of the PTPS gene in patients with 6-Pyruvoyl Tetrahydropterin Synthase (PTPS) deficiency in Indonesia.Gene mutation analysis of the N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) in Mucopolysaccharidosis (MPS) Type IVA Patients in Indonesia.
  • Mutation Screening of N370S dan L444P and Gene mutation analysis of the Glucosylceramidase Beta (GBA) in Gaucher Patient in Indonesia.
  • Analysis of mRNA Expression of the Iduronate-2-Sulfatase (IDS) gene in patients with Mucopolysaccaharidosis (MPS) Type II in Indonesia.
  • Mutation Correlation Analysis with I2S Enzyme Activity in patients with Mucopolysaccaharidosis (MPS) Type II in Indonesia for therapeutic response.
  • Analysis of Glycosaminoglycans (GAGs) Urine and Its Correlation with Mutation Profile in patients with Mucopolysaccaharidosis (MPS) Type II in Indonesia for therapeutic response.
  • Developing Fluorescence In Situ Hybridization (FISH) Methods for Chromosomes Analysis of DiGeorge Patient.
  • Development of Comprehensive Method on Determining Role of Plasma Free Amino Acid, Insulin-Like Growth Factor-1, and IGF-1 Polymorphism in Stunted Children.
  • Development of Screening Instrumentation for Amino Acid Metabolism Defect using Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).
  • Evaluation of Plasma Free Amino Acid Profile in Chronic Liver Disease.

Collaboration

  • Medical Genetic Department, Utrecht Medisch Centrum, Utrecht, Netherlands. (Prof. Ploos van Amstel, Ph.D).
  • Undiagnosed Disease Program (UDP), NHGRI, NHI, Bethesda, Washington DC.
  • Medical Genetic Department, Groningen Medisch Centrum, Groningen, Netherlands. (Dr. Tom J. De Koning, MD, Ph.D).
  • Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • National Human Genetic Research Institute, National Institute of Health, Bethesda, Washington DC. (Prof. Maximilian Muenke, MD, Ph.D).

Organization

Publication

  • Amino acid profile in patients with thalassemia major analyzed by liquid chromatography-tandem mass spectrometry. (Journal of Physics: Conf. Series 1073 (2018) 032044).
  • A Novel mutation in iduronate-2-sulfatase gene Exon 6 of an Indonesian patient with Mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032051).
  • A novel silent mutation at exon 9 of iduronate-2-sulfatase gene in an Indonesian patient with mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032069).
  • Comparison of Neonatal Thyroid Stimulating Hormone Reference Value in Indonesia According to Age and Gender Differences. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Identification of novel variation in introns three and four of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032073).
  • Liquid chromatography-tandem mass spectrometric analyses of the amino acid profiles of normal and malnourished children treated at Cipto Mangunkusumo Hospital. (Journal of Physics: Conf. Series 1073 (2018) 032045).
  • Mutational analysis of exon 4 of the 6-pyruvoyltetrahydropterin synthase gene in an Indonesian population (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032072).
  • Neonatal Thyroid Stimulating Hormone Level and Its Association with Birth Weight Status. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Neonatal Thyroid Stimulating Hormone Level and Its Association with Prematurity Status. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Neonatal Thyroid Stimulating Hormone Status Based on Maternal Adequate Iodized Salt Intake Status in Indonesia. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Novel variations in Exon 4 of the iduronate 2-sulfatase gene in six Indonesian patients with mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032070).
  • Variations on exon 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032071).
  • Genetics and Genomic Medicine in Indonesia. (Molecular Genetics and Genomic Medicine, 2017 Mar;5(2):103-109).
  • National Newborn Screening Program for a Better Indonesia. (13th International Congress of Inborn Errors of Metabolism (ICIEM 2017), Rio De Janeiro, Brazil).
  • Study Protocol to Investigate the Environmental and Genetic Aetiology of Atopic Dermatitis the Indonesian Prospective Study of topic Dermatitis in Infant. (BMJ open 2017;7:e012475.doi:10.1136/bmjopen-2016-012475).
  • Loss of heterozigosity in multiple congenital anomaly patients. (Ann Transl Med. 2015 Sep; 3(Suppl 2): AB170.).
  • The role of lipoprotein E polymorphism in dyslipidemic obese adolescents of physical exercise and National Cholesterol Education Program step II. (Ann.Transl.Med.2015,;3(suppl2):AB106.doi:10.3978/j.issn2305-5839.2015AB106).
  • Diagnostic Approach to the Child with Multiple Congenital Anomalies. (European Pediatric Associating meeting, 2014)