Pokja Genetik
Fakultas Kedokteran, Kesehatan Masyarakat dan Keperawatan, Universitas Gadjah Mada
Jl. Kesehatan No. 1, Yogyakarta 55281, Indonesia
Phone/Fax: +62-274-631036; +62-274-631036
Email: pokjagenetikugm@gmail.com
URL: http://pokjagenetik.fk.ugm.ac.id
Anggota:
- dr. Edwin Widyanto Daniwijaya, Ph.D, Sp.MK
- Prof. dr. Gunadi, Ph.D, Sp.BA, Subsp.D.A(K)
- dr. Ludhang Pradipta Rizki, M.Biotech, Sp.MK
- Hendra Wibawa, DVM, MSc, PhD (Balai Besar Veteriner, Wates, Kulon Progo)
- dr. Dwi Aris Agung Nugrahaningsih, M.Sc, Ph.D
Profil
Penelitian Pokja Genetik FK-KMK UGM salah satunya berfokus pada penemuan gen-gen baru yang terlibat pada penyakit genetik, baik kelainan yang bersifat Mendelian (misalnya: distrofi muscular, dll) maupun Genetik Komplek (misalnya: penyakit Hirschsprung, atresia bilier, kanker, dll) menggunakan teknologi high-throughput sequencing, next-generation sequencing (NGS). Beberapa hibah penelitian baik nasional maupun internasional berhasil didapatkan antara lain:
- World Class Research, Ministry of Research and Technology/National Agency for Research and Innovation: Identification of molecular pathogenesis of Hirschsprung disease in Indonesia by whole exome sequencing (NGS) (2019-2021)
- PDUPT, Ministry of Research and Technology/National Agency for Research and Innovation: Genotyping of rubella virus in Indonesian congenital rubella syndrome patients using real-time polymerase chain reaction and next-generation sequencing (NGS) (2020-2022)
- Basic Researh, Ministry of Research and Technology/National Agency for Research and Innovation: Investigation of miRNA transcriptomic in Hirschsprung disease using next-generation sequencing (NGS) (2020-2022)
- PDUPT, Ministry of Research and Technology/National Agency for Research and Innovation: Targeted panel sequencing (NGS) and expression studies of RET, GATA2, GDNF and GFRa1 in Hirschsprung disease (2020-2022)
- National University of Singapore (NUS)-UGM Tahir Collaboration Seed Grant: Mutation analysis of DMD gene in Duchenne and Becker muscular dystrophy patients in Indonesia (2019)
Untuk penelitian yang berjudul “Genotyping of rubella virus in Indonesian congenital rubella syndrome patients using real-time polymerase chain reaction and next-generation sequencing (NGS)”, Pokja Genetik bekerja sama dengan Balai Besar Veteriner, Wates, Kulon Progo untuk genotyping virus Rubella pada pasien congenital rubella syndrome (CRS) di Indonesia menggunakan teknologi NGS miSeq dan analisis bioinformatiknya. Balai Besar Veteriner, Wates, Kulon Progo telah berpengalaman menjadi lab rujukan untuk genotyping avian influenza.
Selain itu, anggota Pokja Genetik secara aktif mengikuti dan menyelenggarakan workshop NGS antara lain:
- NGS Bioinformatics Analysis and Clinical Curation Workshop, Singapore, 3 – 4 Nov 2018 (Peserta)
- WGC Advanced Course: NGS Analysis for Monogenic Disease, Manila, Philippines, 5 – 6 November 2019 (Peserta)
- NGS: Principles, Application and Bioinformatics Analysis, Yogyakarta, Indonesia, 14 – 15 March 2018 (Panitia)
- NGS: Application, Bioinformatics Analysis and Clinical Curation, Yogyakarta, 7 – 9 March 2019 (Panitia)
Berikut kolaborator Pokja Genetik untuk teknologi NGS dan analisis bioinformatiknya, antara lain
- Joris A. Veltman, PhD (Newcastle University, UK)
- Christian Glissen, PhD (Radboud UMC, Netherland)
- A/Prof. Poh San Lai (NUS, Singapore)
- Yasubumi Sakakibara, PhD (Keio Univ, Japan)
Publikasi
- Gunadi, Hendra Wibawam Marcellus. Mohamad Saifudin Hakin, Edwin Widyanto Daniwijaya, Ludhang Pradipta Rizki, Endah Supriyati, Dwi Aris Agung Nugrahaningsih, Afiahayati, Siswanto, Kristi Iskandar, Nungki Anggorowati, Alvin Santoso Kalim, Dyah Ayu Puspitarani, Kemala Athollah, Eggi Arguni, Titik Nuryastuti, Tri Wibawa. Full-lengh genome characterization and phylogenetic analysis of SARS-Cov-2 virus strains from Yogyakarta and Central Java, Indonesia. Microbiology. 2020 DOI: 10.7717/peerj.10575
- Gunadi, Hendra Wibawa, Mohamad Saifudin Hakim, Marcellus, Ika Trisnawati, Riat El Khair, Rina Triasih, Irene, Afahayati, Kristy Iskandar, Siswanto, Nungki Anggorowati, Edwin Widyanto Daniwijaya, Endah Supriyati, Dwi Aris Agung Nugrahaningsih, Eko Budiono, Heni Retnowulan, Yunika Puspadewi, Ira Puspitawati, Osman Sianipar, Dwiki Afandy, Susan Simanjaya, William Widitjiarso, Dyah Ayu Puspitarani, Fadil Fahri, Untung Riawan, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Nur Rahmi Ananda, Amalia Setyati, Dwikisworo Setyowireni, Ida Saftri Laksanawati, Eggi Arguni, Titik Nuryastuti, and Tri Wibawa on behalf of the Yogyakarta-Central Java COVID-19 study group. Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family cluster. BMC Med Genomics.2021 DOI: 10.1186/s12920-021-00990-3