Publik dikagetkan dengan adanya peningkatan jumlah kasus Covid-19 yang signifikan di Inggris bulan Desember ini. Hasil analisis genomik virus Corona menunjukkan adanya sekelompok mutasi varian baru pada lebih dari separuh kasus Covid-19 di Inggris tersebut. Varian ini dikenal dengan nama VUI 202012/01 yang terdiri dari sekumpulan mutasi antara lain 9 mutasi pada protein S. Varian baru juga ditemukan secara signifikan pada kasus Covid-19 di Afrika Selatan yaitu kombinasi 3 mutasi pada protein S.
Arsip:
2020
Pandemi COVID-19 saat in masih menjadi masalah kesehatan yang mengkhawatirkan baik di Indonesia maupun dunia. Sampai dengan tanggal 6 September 2020 terdapat 194.109 kasus terkonfirmasi positif di Indonesia dan terus mengalami peningkatan. Karena itu, penelitian-penelitian mengenai virus penyebab COVID-19 (SARS-CoV-2) semakin gencar dilakukan khususnya untuk mengetahui profil genetik dari virus tersebut yang bisa mendukung pengembangan terapi dan vaksin serta dalam mengetahui proses penyebaran penyakit COVID-19.
Due to the growing demand of genetic testing for DMD and SMA in our region, we have been developing our human resources capabilities and infrastructure for DMD and SMA genetic testing. Our recent collaboration with expertise from overseas including several seminars, workshops and joint research also helped us to improve our capabilities regarding the genetic testing.
Duchenne Muscular Dystrophy (DMD)
The DMD gene is the largest known human gene, consisting of 79 exons spanning 2.2 Mb. The most identified mutations in DMD are deletions, responsible for approximately 60-65% of DMD and 85% of BMD mutations, while duplications were observed in 5-15% of DMD patients. The remaining maybe caused by small mutations including microdeletions, point mutations or splicing mutations. Therefore, in our institution we have developed our own pipeline on MLPA (Multiplex Ligation Probe Amplification) and multiplex polymerase chain reaction (PCR) analysis of DMD which can cover the copy number variant (deletion or duplication) of the DMD gene.
Hirschsprung disease (HSCR)
Our research focus on understanding of susceptibility genes for Hirschsprung disease (HSCR), its complications (such as enterocolitis and persistent bowel symsptoms), treatment and HSCR patient’s outcomes following surgery for which we were recently awarded a multiyear Indonesian Ministry of Higher Education, Research and Technology/Ministry of Research and Technology – National Agency for Research and Innovation. Our goal is how this genetic information can be used for disease prediction and management for better patient services and their quality of life (translational research).