{"id":49093,"date":"2024-05-18T09:03:34","date_gmt":"2024-05-18T07:03:34","guid":{"rendered":"https:\/\/www.invarena.cz\/?p=49093"},"modified":"2024-05-18T09:26:26","modified_gmt":"2024-05-18T07:26:26","slug":"neslysici-divka-nyni-po-prulomove-lecbe-genovou-terapii-slysi","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=49093","title":{"rendered":"D\u00edvka s vrozenou hluchotou nyn\u00ed po pr\u016flomov\u00e9 l\u00e9\u010db\u011b genovou terapi\u00ed sly\u0161\u00ed"},"content":{"rendered":"\n

Opal Sandy se narodila nesly\u0161\u00edc\u00ed<\/strong> kv\u016fli auditorn\u00ed neuropatii, co\u017e je onemocn\u011bn\u00ed, kter\u00e9 p\u0159eru\u0161uje nervov\u00e9 impulzy putuj\u00edc\u00ed z vnit\u0159n\u00edho ucha do sluchov\u00e9ho centra v mozku a je zp\u016fsobeno vadn\u00fdm genem. Jedn\u00e1 se o senzorickou poruchu sluchu, kdy je posti\u017een sluchov\u00fd nerv.<\/p>\n\n\n\n

Po infuzi obsahuj\u00edc\u00ed funk\u010dn\u00ed kopii genu v\u0161ak nyn\u00ed osmn\u00e1ctim\u011bs\u00ed\u010dn\u00ed Opal sly\u0161\u00ed t\u00e9m\u011b\u0159 dokonale. Jej\u00ed rodi\u010de byli ohromeni, kdy\u017e zjistili, \u017ee po z\u00e1kroku poprv\u00e9 sly\u0161\u00ed. „Nemohla jsem tomu uv\u011b\u0159it. Bylo to \u00fa\u017easn\u00e9,“ \u0159ekla Opalina matka Jo.<\/p>\n\n\n\n

Batole tak z\u00edskalo sluch pot\u00e9, co se jako prvn\u00ed \u010dlov\u011bk na sv\u011bt\u011b z\u00fa\u010dastnilo pr\u016fkopnick\u00e9 studie genov\u00e9 terapie, kter\u00e1 podle l\u00e9ka\u0159\u016f znamen\u00e1 novou \u00e9ru v l\u00e9\u010db\u011b vrozen\u00e9 hluchoty. <\/p>\n\n\n\n

Opal Sandy byla o\u0161et\u0159ena kr\u00e1tce p\u0159ed sv\u00fdmi prvn\u00edmi narozeninami – a po \u0161esti m\u011bs\u00edc\u00edch sly\u0161\u00ed zvuky jemn\u00e9 jako \u0161epot a za\u010d\u00edn\u00e1 mluvit a \u0159\u00edk\u00e1 slova jako „mami“, „Dada“ a „uh-oh“.<\/p>\n\n\n\n

Terapie podan\u00e1 jako infuze do ucha nahrazuje vadnou DNA zp\u016fsobuj\u00edc\u00ed jej\u00ed typ d\u011bdi\u010dn\u00e9 hluchoty.<\/p>\n\n\n\n

Opal je sou\u010d\u00e1st\u00ed n\u00e1boru pacient\u016f ve Spojen\u00e9m kr\u00e1lovstv\u00ed, USA a \u0160pan\u011blsku do studie nov\u00e9 l\u00e9\u010dby.<\/p>\n\n\n\n

L\u00e9ka\u0159i v jin\u00fdch zem\u00edch, v\u010detn\u011b \u010c\u00edny, tak\u00e9 zkoumaj\u00ed velmi podobn\u00e9 zp\u016fsoby l\u00e9\u010dby mutace genu Otof, kterou m\u00e1 Opal.<\/p>\n\n\n\n

Jej\u00ed rodi\u010de, Jo a James, z Oxfordshire, \u0159\u00edkaj\u00ed, \u017ee v\u00fdsledky byly ohromuj\u00edc\u00ed – ale umo\u017enit Opal, aby jako prvn\u00ed testovala tuto l\u00e9\u010dbu, kterou vyrobil Regeneron, bylo extr\u00e9mn\u011b t\u011b\u017ek\u00e9.<\/p>\n\n\n\n

„Bylo to opravdu hrozn\u011b t\u011b\u017ek\u00e9, ale nakonec jsme dostali tuto jedine\u010dnou p\u0159\u00edle\u017eitost,“ \u0159ekla Jo v exkluzivn\u00edm televizn\u00edm rozhovoru pro BBC Breakfast News.<\/p>\n\n\n\n

Jej\u00ed sestra Nora, p\u011btilet\u00e1, m\u00e1 stejn\u00fd typ hluchoty a dob\u0159e zvl\u00e1d\u00e1 no\u0161en\u00ed elektrick\u00e9ho kochle\u00e1rn\u00edho implant\u00e1tu.

Oproti tomu nov\u00e1 terapie vyu\u017e\u00edv\u00e1 upraven\u00fd, ne\u0161kodn\u00fd virus k vpraven\u00ed pracovn\u00ed kopie genu Otof do p\u0159\u00edslu\u0161n\u00fdch bun\u011bk.<\/p>\n\n\n\n

U Opal se nov\u00e1 terapie uskute\u010dnila v celkov\u00e9 anestezii u prav\u00e9ho ucha a do lev\u00e9ho ucha j\u00ed byl vlo\u017een kochle\u00e1rn\u00ed implant\u00e1t stejn\u011b jako u jej\u00ed star\u0161\u00ed sestry.<\/p>\n\n\n\n

Jen o n\u011bkolik t\u00fddn\u016f pozd\u011bji sly\u0161ela v prav\u00e9m uchu hlasit\u00e9 zvuky, jako je tlesk\u00e1n\u00ed.<\/p>\n\n\n\n

A po \u0161esti m\u011bs\u00edc\u00edch jej\u00ed l\u00e9ka\u0159i v Addenbrooke’s Hospital v Cambridge potvrdili, \u017ee ucho m\u00e1 t\u00e9m\u011b\u0159 norm\u00e1ln\u00ed sluch pro jemn\u00e9 zvuky – dokonce i velmi tich\u00fd \u0161epot.<\/p>\n\n\n\n

„Je \u00fa\u017easn\u00e9 vid\u011bt, jak reaguje na zvuk,\u201c \u0159ekl BBC News u\u0161n\u00ed chirurg profesor Manohar Bance, vedouc\u00ed studie nov\u00e9 experiment\u00e1ln\u00ed l\u00e9\u010dby.<\/p>\n\n\n\n

Odborn\u00edci doufaj\u00ed, \u017ee terapie by mohla fungovat i u jin\u00fdch typ\u016f t\u011b\u017ek\u00e9 ztr\u00e1ty sluchu. V\u00edce ne\u017e polovina p\u0159\u00edpad\u016f ztr\u00e1ty sluchu u d\u011bt\u00ed m\u00e1 genetickou p\u0159\u00ed\u010dinu. Prof Bance douf\u00e1, \u017ee studie m\u016f\u017ee v\u00e9st k pou\u017eit\u00ed genov\u00e9 terapie pro b\u011b\u017en\u011bj\u0161\u00ed typy ztr\u00e1ty sluchu.<\/p>\n\n\n\n

„V co douf\u00e1m, je, \u017ee m\u016f\u017eeme za\u010d\u00edt pou\u017e\u00edvat genovou terapii u mal\u00fdch d\u011bt\u00ed\u2026 kde skute\u010dn\u011b obnov\u00edme sluch a nebudou muset m\u00edt kochle\u00e1rn\u00ed implant\u00e1ty a dal\u0161\u00ed technologie, kter\u00e9 se mus\u00ed vym\u011b\u0148ovat,“ \u0159ekl.<\/p>\n\n\n\n

Ztr\u00e1ta sluchu zp\u016fsoben\u00e1 variac\u00ed v genu Otof nen\u00ed b\u011b\u017en\u011b detekov\u00e1na. Ale genetick\u00e9 testov\u00e1n\u00ed pro rizikov\u00e9 rodiny je v GB dostupn\u00e9.<\/p>\n\n\n\n

Profesor Bance \u0159ekl: „\u010c\u00edm mlad\u0161\u00edmu d\u00edt\u011bti dok\u00e1\u017eeme obnovit sluch, t\u00edm l\u00e9pe, proto\u017ee mozek za\u010dne vyp\u00ednat svou plasticitu [p\u0159izp\u016fsobivost] p\u0159ibli\u017en\u011b ve v\u011bku t\u0159\u00ed let.“<\/p>\n\n\n\n

Zku\u0161enosti Opal, spolu s dal\u0161\u00edmi v\u011bdeck\u00fdmi \u00fadaji ze studie, jsou prezentov\u00e1ny v Americk\u00e9 spole\u010dnosti pro genovou a bun\u011b\u010dnou terapii v Baltimoru v USA. Martin McLean z National Deaf Children’s Society \u0159ekl, \u017ee je t\u0159eba uv\u00edtat v\u00edce mo\u017enost\u00ed. „Se spr\u00e1vnou podporou od za\u010d\u00e1tku po narozen\u00ed d\u00edt\u011bte by hluchota nikdy nem\u011bla b\u00fdt p\u0159ek\u00e1\u017ekou pro jeho \u017eivotn\u00ed \u0161t\u011bst\u00ed a seberealizaci,“ \u0159ekl<\/p>\n","protected":false},"excerpt":{"rendered":"

Opal Sandy se narodila nesly\u0161\u00edc\u00ed kv\u016fli auditorn\u00ed neuropatii, co\u017e je onemocn\u011bn\u00ed, kter\u00e9 p\u0159eru\u0161uje nervov\u00e9 impulzy putuj\u00edc\u00ed z vnit\u0159n\u00edho ucha do sluchov\u00e9ho centra v mozku a je zp\u016fsobeno […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":49095,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-49093","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zdravi"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/49093","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=49093"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/49093\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/49095"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=49093"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=49093"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=49093"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}