FKUI Develops Genetic Diagnostic Methods for Rare Disease Solutions
Depok — The Faculty of Medicine at the University of Indonesia (FKUI) is developing genetic diagnostic methods to accelerate the diagnosis and early management of rare diseases.
“Through the Human Genetic Research Cluster at IMERI FKUI, we continue to develop various genetic diagnostic methods to support the identification of genetic diseases from an early stage, including gene mutation analysis, microarray, and other genetic examinations,” said Professor Damayanti Rusli Sjarif, Head of HGRC at IMERI FKUI.
She noted that collaboration with laboratory partners across Asia and globally strengthens genomic research through next-generation sequencing technology, enabling genetic information for patients and healthcare professionals to be obtained more quickly and comprehensively.
According to her, diagnostic delays resulting from limited genetic examination facilities represent one of the major challenges in managing rare diseases in Indonesia. For years, many patients have been forced to send samples abroad for comprehensive genetic analysis, often extending the diagnostic process significantly.
Dean of the Faculty of Medicine at the University of Indonesia, Professor Dr Anna Rozaliyani, stated that science and research must provide hope to rare disease patients and their families. “Rare Disease Day reminds us that behind the term ‘rare’ there are always people, families, and patients with great hopes. Many have gone through lengthy diagnostic journeys and faced diagnostic and therapeutic limitations, so broader support is desperately needed. This is where science must offer hope,” she said.
Through HGRC IMERI FKUI, the faculty is committed to becoming a national research centre and centre of excellence for various research topics, including genetic research and precision medicine in Indonesia. The Dean emphasised that IMERI FKUI will continue to strengthen genetic diagnostic capacity to support faster and more accurate identification of rare diseases in Indonesia.
Rare Disease Day is observed annually on 28 February. IMERI FKUI, together with Cipto Mangunkusumo Hospital, the MPS Foundation, and Indonesian Rare Disease organisations, held national activities to raise public awareness about rare diseases in Indonesia.
The global theme for this year’s Rare Disease Day is “Equity Throughout Life: Representing Every Person with Rare Disease”, emphasising the importance of equitable healthcare services throughout the life cycle for every individual with a rare disease. Every patient, from infants to adults, deserves accurate diagnosis, adequate therapy, and equitable social and healthcare financial support.