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Der Kampf gegen seltene Krankheiten

STANFORD – Seltene Krankheiten werden normalerweise vernachlässigt, einfach genau aus dem Grund, weil sie selten sind. Trotzdem betreffen sie eine ungeheure Zahl von Menschen. In den USA gilt eine Krankheit als selten, wenn weniger als 200.000 Menschen davon betroffen sind. Aber es sind mehr als 6.800 Krankheiten, auf die diese Definition zutrifft, und an denen weltweit Hunderte Millionen von Menschen leiden. Und dennoch gibt es nur circa 250 Therapien für diese Krankheiten.

Ein Grund dafür ist, dass die geringe Anzahl an Patienten die Untersuchung der Krankheit und die Prüfung von Medikamenten erschwert. Deshalb wissen Ärzte und Pflegpersonal oft wenig über Symptome und Biologie dieser Erkrankungen.

Im Frühjahr nahm ich an einem Tag der seltenen Krankheiten in Kalifornien teil. Thema war eine obskure, aber lange Liste von (mehr als 70) Erkrankungen, die von einer bestimmten Art genetischem Fehler verursacht werden - einem Fehler der Zellmaschinerie, die Zucker chemisch an Proteine und Lipide bindet.

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