{"id":338599,"date":"2025-02-28T13:46:53","date_gmt":"2025-02-28T12:46:53","guid":{"rendered":"https:\/\/zakrasnejsivimperk.cz\/?p=338599"},"modified":"2025-02-28T13:46:53","modified_gmt":"2025-02-28T12:46:53","slug":"z-prvni-ruky-novy-program-ceskych-vedcu-se-zameri-na-vzacna-onemocneni","status":"publish","type":"post","link":"https:\/\/zakrasnejsivimperk.cz\/?p=338599","title":{"rendered":"Z PRVN\u00cd RUKY: Nov\u00fd program \u010desk\u00fdch v\u011bdc\u016f se zam\u011b\u0159\u00ed na vz\u00e1cn\u00e1 onemocn\u011bn\u00ed"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-243085 size-large\" src=\"https:\/\/zakrasnejsivimperk.cz\/wp-content\/uploads\/2021\/12\/19\/akademie-v\u011bd-av-cr-logo-1024x275.png\" alt=\"\" width=\"700\" height=\"188\" srcset=\"https:\/\/zakrasnejsivimperk.cz\/wp-content\/uploads\/2021\/12\/19\/akademie-v\u011bd-av-cr-logo-1024x275.png 1024w, https:\/\/zakrasnejsivimperk.cz\/wp-content\/uploads\/2021\/12\/19\/akademie-v\u011bd-av-cr-logo-300x80.png 300w, https:\/\/zakrasnejsivimperk.cz\/wp-content\/uploads\/2021\/12\/19\/akademie-v\u011bd-av-cr-logo-768x206.png 768w, https:\/\/zakrasnejsivimperk.cz\/wp-content\/uploads\/2021\/12\/19\/akademie-v\u011bd-av-cr-logo-1331x357.png 1331w, https:\/\/zakrasnejsivimperk.cz\/wp-content\/uploads\/2021\/12\/19\/akademie-v\u011bd-av-cr-logo-1801x483.png 1801w\" sizes=\"(max-width: 700px) 100vw, 700px\" \/><\/p>\n<p>&nbsp;<\/p>\n<h6>Existuj\u00ed tis\u00edce vz\u00e1cn\u00fdch onemocn\u011bn\u00ed, \u010dasto je\u0161t\u011b nedostate\u010dn\u011b prob\u00e1dan\u00e9, pro n\u011b\u017e dosud neexistuje \u00fa\u010dinn\u00e1 l\u00e9\u010dba. \u010cesk\u00e9 centrum pro fenogenomiku (CCP), velk\u00e1 v\u00fdzkumn\u00e1 infrastruktura p\u0159i \u00dastavu molekul\u00e1rn\u00ed genetiky AV \u010cR, proto spustilo program RD-Factory, jeho\u017e c\u00edlem je zjistit v\u00edce informac\u00ed o t\u011bchto onemocn\u011bn\u00edch, zlep\u0161it jejich diagnostiku a pomoci naj\u00edt mo\u017en\u00e9 zp\u016fsoby l\u00e9\u010dby. Aby v\u00fdzkum pokryl i nemoci, kter\u00e9 pacienty a jejich rodiny nejv\u00edce tr\u00e1p\u00ed, byla v\u00fdzva k nominaci nemoc\u00ed otev\u0159ena nejen odborn\u00edk\u016fm, ale i samotn\u00fdm pacient\u016fm a pacientsk\u00fdm organizac\u00edm. Pr\u00e1v\u011b 28. \u00fanor, Mezin\u00e1rodn\u00ed den vz\u00e1cn\u00fdch onemocn\u011bn\u00ed, upozor\u0148uje na d\u016fle\u017eitost v\u011bdeck\u00e9ho pokroku v t\u00e9to oblasti.<\/h6>\n<p>V prvn\u00edm kole bylo nominov\u00e1no 45 gen\u016f a nemoc\u00ed, kter\u00e9 posoudili odborn\u00edci z CCP a \u00dastavu molekul\u00e1rn\u00ed a transla\u010dn\u00ed medic\u00edny Univerzity Palack\u00e9ho v Olomouci. Experti vybrali 11 n\u00e1vrh\u016f, co\u017e je o polovinu v\u00edce, ne\u017e se p\u016fvodn\u011b pl\u00e1novalo. Roz\u0161\u00ed\u0159en\u00ed umo\u017enila skute\u010dnost, \u017ee CCP mohlo n\u011bkter\u00e9 projekty za\u0159adit do programu prob\u00edhaj\u00edc\u00edho pod hlavi\u010dkou mezin\u00e1rodn\u00edho konsorcia International Mouse Phenotyping Consortium, kter\u00fd se zam\u011b\u0159uje na v\u00fdzkum funkce gen\u016f a genetick\u00fdch mutac\u00ed.<\/p>\n<p><em>\u201eV\u00fdb\u011br z nominovan\u00fdch vz\u00e1cn\u00fdch onemocn\u011bn\u00ed m\u011bl n\u011bkolik aspekt\u016f. Vyb\u00edrali jsme takov\u00e1 onemocn\u011bn\u00ed, kter\u00e1 nejsou v sou\u010dasn\u00e9 dob\u011b dostate\u010dn\u011b prob\u00e1d\u00e1na a intenzivn\u011b se na nich nepracuje jinde na sv\u011bt\u011b. D\u00e1le jsme vyhodnocovali, zda na\u0161e expertiza dok\u00e1\u017ee pozn\u00e1n\u00ed o t\u011bchto nemocech posunout a zda je n\u00e1vrh provediteln\u00fd i z hlediska na\u0161\u00ed v\u00fdzkumn\u00e9 kapacity,\u201c<\/em> vysv\u011btluje Radislav Sedl\u00e1\u010dek, \u0159editel CCP.<\/p>\n<h6>P\u0159ehled vybran\u00fdch n\u00e1vrh\u016f onemocn\u011bn\u00ed:<\/h6>\n<ul>\n<li>\u00b7 ADSL deficience \u2013 onemocn\u011bn\u00ed ovliv\u0148uj\u00edc\u00ed metabolismus stavebn\u00edch slo\u017eek DNA a RNA<\/li>\n<li>\u00b7 Ctnnb1 syndrom \u2013 onemocn\u011bn\u00ed vedouc\u00ed k v\u00fdvojov\u00fdm poruch\u00e1m, ment\u00e1ln\u00ed retardaci<\/li>\n<li>\u00b7 Lessel-Kreienkamp syndrom \u2013 onemocn\u011bn\u00ed, kter\u00e9 vede k ment\u00e1ln\u00ed retardaci a poruch\u00e1m \u0159e\u010di<\/li>\n<li>\u00b7 MADD deficience \u2013 metabolick\u00e9 onemocn\u011bn\u00ed s poruchou odbour\u00e1v\u00e1n\u00ed mastn\u00fdch kyselin<\/li>\n<li>\u00b7 Pitt Hopkins syndrom \u2013 onemocn\u011bn\u00ed, je\u017e se projevuje t\u011b\u017ekou ment\u00e1ln\u00ed retardac\u00ed<\/li>\n<li>\u00b7 Harlek\u00fdnsk\u00e1 ichty\u00f3za \u2013 vrozen\u00e9 genetick\u00e9 ko\u017en\u00ed onemocn\u011bn\u00ed postihuj\u00edc\u00ed epidermis<\/li>\n<li>\u00b7 Choroba Canavanov\u00e9 \u2013 d\u011bdi\u010dn\u00e9 metabolick\u00e9 onemocn\u011bn\u00ed ovliv\u0148uj\u00edc\u00ed b\u00edlou hmotu mozku<\/li>\n<li>\u00b7 Bloom syndrom \u2013 genetick\u00e9 onemocn\u011bn\u00ed postihuj\u00edc\u00ed DNA repara\u010dn\u00ed mechanismy<\/li>\n<li>\u00b7 Liang-Wang syndrom \u2013 genetick\u00e1 porucha spojen\u00e1 s neurologick\u00fdm posti\u017een\u00edm<\/li>\n<li>\u00b7 CYFIP2 v\u00fdvojov\u00e1 a epileptick\u00e1 encefalopatie \u2013 genetick\u00e1 porucha postihuj\u00edc\u00ed nervov\u00fd syst\u00e9m<\/li>\n<li>\u00b7 YWHAG v\u00fdvojov\u00e1 a epileptick\u00e1 encefalopatie \u2013 neurologick\u00e9 onemocn\u011bn\u00ed spojen\u00e9 s mutac\u00ed v genu YWHAG<\/li>\n<\/ul>\n<h6>V\u00fdzva pokra\u010duje \u2013 m\u016f\u017ee pomoci i ve\u0159ejnost<\/h6>\n<p>Vz\u00e1cn\u00e1 onemocn\u011bn\u00ed z\u00e1va\u017en\u011b postihuj\u00ed pacienty i jejich rodiny. Pro v\u011bt\u0161inu t\u011bchto chorob neexistuje vhodn\u00fd model nemoci, na kter\u00e9m by se dal jej\u00ed vznik a pr\u016fb\u011bh vhodn\u011b zkoumat a jen\u017e by tak\u00e9 umo\u017e\u0148oval testovat p\u0159\u00edpadn\u00e9 terapie.<\/p>\n<p><em>\u201eVn\u00edm\u00e1me zna\u010dnou spole\u010denskou pot\u0159ebu pomoci t\u011bm, kdo trp\u00ed takov\u00fdm onemocn\u011bn\u00edm. Proto jsme se rozhodli vykro\u010dit z na\u0161eho \u010dist\u011b v\u011bdeck\u00e9ho sv\u011bta a obr\u00e1tit se i na \u0161irokou ve\u0159ejnost, kter\u00e1 n\u00e1s m\u016f\u017ee nejen inspirovat, ale m\u016f\u017ee s n\u00e1mi tak\u00e9 spolupracovat. D\u00edky na\u0161im dlouholet\u00fdm zku\u0161enostem s objevov\u00e1n\u00edm funkc\u00ed gen\u016f a p\u0159edklinick\u00fdm testov\u00e1n\u00edm potenci\u00e1ln\u00edch terapi\u00ed m\u00e1me expertizu i z\u00e1zem\u00ed k tomu, abychom mohli vz\u00e1cn\u00e1 onemocn\u011bn\u00ed prozkoumat. Jsme si v\u011bdomi velk\u00e9 pot\u0159eby v\u00fdzkumu mnoha dal\u0161\u00edch onemocn\u011bn\u00ed, a proto v\u00fdzva pro nominaci d\u00e1le pokra\u010duje druh\u00fdm kolem, kter\u00e9 bude kon\u010dit v \u010dervnu 2025,\u201c<\/em> dopl\u0148uje Radislav Sedl\u00e1\u010dek.<\/p>\n<p>Sama ve\u0159ejnost i pacientsk\u00e9 organizace snahu v\u011bdc\u016f zmapovat vz\u00e1cn\u00e1 onemocn\u011bn\u00ed v\u00edtaj\u00ed a cht\u011bj\u00ed se na v\u00fdzkumu pod\u00edlet.<\/p>\n<p><em>\u201eJsme moc r\u00e1di, \u017ee se v\u011bdci z CCP rozhodli v\u011bnovat vz\u00e1cn\u00fdm onemocn\u011bn\u00edm a ke spolupr\u00e1ci p\u0159izvali i n\u00e1s, pacientsk\u00e9 organizace i jednotliv\u00e9 rodiny. Kdy\u017e byla v\u00fdzva otev\u0159ena a my jsme o n\u00ed informovali sv\u00e9 \u010dleny, zaznamenali jsme velik\u00fd z\u00e1jem, ale i mno\u017estv\u00ed ot\u00e1zek a nejistot mezi lidmi, kte\u0159\u00ed uva\u017eovali o sv\u00e9m zapojen\u00ed. Proto jsme pro n\u011b uspo\u0159\u00e1dali webin\u00e1\u0159. V oblasti vz\u00e1cn\u00fdch onemocn\u011bn\u00ed je mnoho b\u00edl\u00fdch m\u00edst. Je dob\u0159e, \u017ee m\u00e1me v \u010cesk\u00e9 republice v\u011bdce na \u0161pi\u010dkov\u00e9 \u00farovni, kte\u0159\u00ed jsou schopni posouvat hranice pozn\u00e1n\u00ed. Oce\u0148ujeme tak\u00e9, \u017ee se v rozhodov\u00e1n\u00ed o zam\u011b\u0159en\u00ed v\u00fdzkumu ne\u0159\u00edd\u00ed jen vlastn\u00edmi v\u011bdeck\u00fdmi hledisky, ale berou v potaz i hlasy lid\u00ed, kte\u0159\u00ed s t\u011bmito nemocemi \u017eij\u00ed,&#8221;<\/em> \u0159\u00edk\u00e1 Anna Arellanesov\u00e1, p\u0159edsedkyn\u011b \u010cesk\u00e9 asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed.<\/p>\n<h6>Pomoc pacient\u016fm a zmen\u0161ovan\u00ed nejistoty<\/h6>\n<p>V\u011bdeck\u00fd program RD-Factory se sna\u017e\u00ed vybran\u00fdm onemocn\u011bn\u00edm porozum\u011bt, popsat je a naj\u00edt cesty, jak by se daly l\u00e9\u010dit nap\u0159\u00edklad genovou terapi\u00ed nebo s vyu\u017eit\u00edm ji\u017e existuj\u00edc\u00edch l\u00e9k\u016f.<\/p>\n<p><em>\u201eV prvn\u00ed \u0159ad\u011b nejde o samotn\u00fd v\u00fdvoj l\u00e9ku, to je t\u0159eba vyjasnit, ale v n\u011bkter\u00fdch p\u0159\u00edpadech, kter\u00e9 k tomu budou vhodn\u00e9, m\u016f\u017eeme l\u00e9\u010dbu navrhnout a otestovat. Jestli se d\u00edky na\u0161\u00edm poznatk\u016fm poda\u0159\u00ed naj\u00edt na n\u011bkter\u00e9 nemoci l\u00e9k, nen\u00ed p\u0159edem dan\u00e9. N\u00e1\u0161 v\u00fdzkum zat\u00edm sm\u011b\u0159ujeme nejd\u00e1le do preklinick\u00e9ho testov\u00e1n\u00ed,\u201d<\/em> objas\u0148uje Sedl\u00e1\u010dek. Hodnota programu podle n\u011bj nespo\u010d\u00edv\u00e1 jen v tom, \u017ee d\u00edky n\u011bmu mo\u017en\u00e1 v budoucnu budou m\u00edt experti l\u00e9k na n\u011bkter\u00e9 nemoci. Jde hlavn\u011b o pozn\u00e1n\u00ed nemoc\u00ed samotn\u00fdch a o zapojen\u00ed t\u011bch, kdo s konkr\u00e9tn\u00edmi onemocn\u011bn\u00edmi \u017eij\u00ed, do v\u011bdeck\u00e9 pr\u00e1ce. \u201e<em>Pokud budeme moci poskytnout l\u00e9ka\u0159\u016fm poznatky o t\u011bchto nemocech, budou moci l\u00e9pe pom\u00e1hat sv\u00fdm pacient\u016fm. Vn\u00edm\u00e1me, \u017ee pro pacienty i pro l\u00e9ka\u0159e je velmi t\u011b\u017ek\u00e1 nejistota, kter\u00e1 vz\u00e1cn\u00e9 neprob\u00e1dan\u00e9 choroby prov\u00e1z\u00ed: nen\u00ed jasn\u00e1 progn\u00f3za ani zp\u016fsoby, jak m\u00edrnit postup a p\u0159\u00edznaky nemoc\u00ed. D\u00edky na\u0161emu programu tuto nejistotu m\u016f\u017eeme postupn\u011b zmen\u0161ovat.\u201d<\/em><\/p>\n<p>\u010cesk\u00e9 centrum pro fenogenomiku (CCP) \u00dastavu molekul\u00e1rn\u00ed genetiky (\u00daMG) AV \u010cR pat\u0159\u00ed mezi p\u0159edn\u00ed mezin\u00e1rodn\u00ed centra pro vytv\u00e1\u0159en\u00ed my\u0161\u00edch model\u016f ur\u010den\u00fdch pro v\u00fdzkum funkce gen\u016f a lidsk\u00fdch onemocn\u011bn\u00ed. S p\u0159ibli\u017en\u011b 1 000 vyvinut\u00fdmi modely se CCP stalo kl\u00ed\u010dov\u00fdm hr\u00e1\u010dem v objevov\u00e1n\u00ed funkc\u00ed gen\u016f a preklinick\u00e9ho testov\u00e1n\u00ed potenci\u00e1ln\u00edch terapi\u00ed.<\/p>\n<p>V sou\u010dasn\u00e9 dob\u011b prob\u00edh\u00e1 druh\u00e9 kolo nominac\u00ed, kter\u00e9 kon\u010d\u00ed 30. 6. 2025 \u2013 v\u00edce informac\u00ed: <a href=\"https:\/\/www.phenogenomics.cz\/rare-diseases\/gene-nomination\/.\" target=\"_blank\" rel=\"noopener\"><strong>https:\/\/www.phenogenomics.cz\/rare-diseases\/gene-nomination\/.<\/strong><\/a><\/p>\n<p><strong>(tz-av\u010dr)<\/strong><\/p>\n<hr \/>\n<p>&nbsp;<\/p>\n<h6>Informujeme:<\/h6>\n<h4 class=\"entry-title\"><a href=\"https:\/\/zakrasnejsivimperk.cz\/?p=338576\" target=\"_blank\" rel=\"noopener\">N\u00e1klady VZP na centrovou l\u00e9\u010dbu za p\u011bt let vzrostly o 70 %. 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