Diluncurkan pada tahun 2021 melalui konsorsium publik-swasta besar di Eropa, Screen4Care adalah proyek penelitian 5 tahun untuk mengevaluasi potensi sekuensing generasi berikutnya (next-generation sequencing, NGS) dan alat digital untuk meningkatkan sistem skrining bayi baru lahir (newborn screening, NBS), mempercepat diagnosis penyakit genetik langka, dan pada akhirnya menghubungkan pasien dengan pengobatan atau intervensi yang dapat mendorong hasil kesehatan yang lebih baik.<\/p>\n
Setelah bertahun-tahun perencanaan, proyek ini sekarang berada dalam \u2018fase penting\u2019 peluncuran program skrining dan pengujian panel NGS 245-gen dengan kelompok awal setidaknya 18.000-20.000 bayi baru lahir di beberapa negara Eropa. Aktivitas laboratorium untuk penelitian ini akan dipusatkan di Ospedale Pediatrico Bambino Ges\u00f9 (OPBG) di Roma, Italia, salah satu pusat medis pediatrik terkemuka di Eropa.<\/p>\n
Untuk mempelajari lebih lanjut tentang proyek ini, Lab Insights berbicara dengan Prof.\u00a0 Alessandra Ferlini, seorang ahli genetika medis yang menjabat sebagai Koordinator Ilmiah keseluruhan untuk Screen4Care, dan Dr. Enrico Bertini, seorang ahli saraf pediatrik yang menjabat sebagai Peneliti Utama di lokasi OPBG. Dalam Tanya Jawab dengan Dr. Michela Zuccolo, Global Gene Therapy & Rare Strategy Lead di Roche, mereka berbagi informasi terkini terkait studi dan pemikiran tentang masa depan NBS di Eropa.<\/p>\n","protected":false},"excerpt":{"rendered":"
Diluncurkan pada tahun 2021 melalui konsorsium publik-swasta besar di Eropa, Screen4Care adalah proyek penelitian 5 tahun untuk mengevaluasi potensi sekuensing generasi berikutnya (next-generation sequencing, NGS) dan alat digital untuk meningkatkan sistem skrining bayi baru lahir (newborn screening, NBS), mempercepat diagnosis penyakit genetik langka, dan pada akhirnya menghubungkan pasien dengan pengobatan atau intervensi yang dapat mendorong 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