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Menanggulangi Penyakit-penyakit Langka

STANFORD – Penyakit-penyakit langka sering terabaikan, tidak lain karena penyakit tersebut jarang ditemukan. Namun secara keseluruhan, kelompok penyakit ini menyerang banyak individu. Di Amerika Serikat, penyakit-penyakit langka (rare and orphan diseases) didefinisikan sebagai penyakit yang menyerang kurang dari 200.000 orang. Tapi ada lebih dari 6.800 jenis dan jumlah penderitanya mencapai ratusan juta jiwa di seluruh dunia. Sayangnya, sampai sekarang baru tersedia 250 pengobatan bagi pengidap penyakit langka.

Salah satu alasannya ialah terbatasnya jumlah pasien sehingga studi atas kelompok penyakit tersebut dan pengujian obat-obatannya menjadi sulit. Akibatnya, kerap kali para profesional di bidang kesehatan tidak memiliki pengetahuan cukup atas gejala dan penyebab penyakit-penyakit langka.

Di awal tahun ini, saya mengikuti program Rare Disease Day di California. Topiknya agak kabur tapi mencakup banyak penyakit (lebih dari 70) yang disebabkan oleh kelainan genetika jenis tertentu – yaitu kelainan yang terjadi di sistem sel yang mengikat gula dengan protein dan lipid.

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