{"id":2716,"date":"2019-04-24T20:13:12","date_gmt":"2019-04-25T01:13:12","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2716"},"modified":"2021-02-19T18:31:17","modified_gmt":"2021-02-19T18:31:17","slug":"lgmd-researcher-hartzell","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/fr\/lgmd2l\/2019\/04\/24\/lgmd-researcher-hartzell\/","title":{"rendered":"Chercheur du LGMD : H. Criss Hartzell"},"content":{"rendered":"
\"\"<\/figure>\n

\"LA RECHERCHE SOUS LES PROJECTEURS DE LA LGMD\"<\/strong><\/p>\n

CHERCHEUR DE LGMD :\u00a0 <\/strong>\u00a0H. Criss Hartzell<\/p>\n

Affiliation :\u00a0 <\/strong>\u00c9cole de m\u00e9decine de l'universit\u00e9 d'Emory<\/p>\n

R\u00f4le ou fonction :\u00a0 <\/strong>Professeur<\/p>\n

Quels sont les \u00e9tudes et la formation qui vous ont permis d'acc\u00e9der \u00e0 votre poste actuel ?<\/strong><\/p>\n

B.A. Lawrence University, sp\u00e9cialisation en chimie et en biologie<\/p>\n

Docteur en biologie de l'universit\u00e9 Johns Hopkins.<\/p>\n

Recherche postdoctorale au d\u00e9partement de neurobiologie de la Harvard Medical School<\/p>\n

Qu'est-ce qui vous a amen\u00e9 \u00e0 suivre une carri\u00e8re dans la recherche et \u00e0 \u00e9tudier la dystrophie musculaire en particulier ?<\/strong><\/p>\n

D'aussi loin que je me souvienne, j'ai toujours \u00e9t\u00e9 int\u00e9ress\u00e9 par la science. \u00c0 l'universit\u00e9, j'ai lu un article de la revue Scientific American sur la th\u00e9orie du pont transversal de la contraction musculaire et j'ai \u00e9t\u00e9 fascin\u00e9e par l'id\u00e9e que le muscle \u00e9tait fondamentalement une machine mol\u00e9culaire. Mon doctorat portait sur les r\u00e9cepteurs d'ac\u00e9tylcholine \u00e0 la jonction neuromusculaire et a permis de d\u00e9couvrir que le nombre de r\u00e9cepteurs d'ac\u00e9tylcholine \u00e9tait r\u00e9duit \u00e0 la jonction neuromusculaire dans le cas de la myasth\u00e9nie grave. J'ai \u00e9t\u00e9 boursier de l'association de la dystrophie musculaire en tant que post-doctorant \u00e0 Harvard.<\/p>\n

Quels sont les sujets que vous \u00e9tudiez ?<\/strong><\/p>\n

\u00a0Nous \u00e9tudions la prot\u00e9ine ANO5. Les mutations d'ANO5 sont les 4th<\/sup> La cause la plus fr\u00e9quente de la LGMD, mais on ne sait presque rien de ce que fait ANO5 ou de son fonctionnement. Nous pensons qu'il est impliqu\u00e9 dans la r\u00e9paration de la membrane musculaire. Nous \u00e9tudions ce probl\u00e8me aux niveaux cellulaire et mol\u00e9culaire.<\/p>\n

Comment vos travaux aideront-ils les patients ? S'agit-il d'un travail de nature plus scientifique ou pourrait-il devenir un traitement pour la LGMD ?<\/strong>ou MD<\/strong>en g\u00e9n\u00e9ral ?<\/strong><\/p>\n

Nous pensons que la compr\u00e9hension de la biologie mol\u00e9culaire et cellulaire fondamentale de l'ANO5 est une condition pr\u00e9alable au d\u00e9veloppement de th\u00e9rapies pour cette forme de LGMD (2L). Nous pensons \u00e9galement que les connaissances que nous acqu\u00e9rons sur la fa\u00e7on dont la membrane musculaire se r\u00e9pare fourniront de nouveaux indices pour les th\u00e9rapies d'autres LGMD.<\/p>\n

Qu'aimeriez-vous que les patients et les autres personnes int\u00e9ress\u00e9es par la LGMD sachent \u00e0 propos de la recherche (vos propres projets et le domaine en g\u00e9n\u00e9ral) ?<\/strong><\/p>\n

La recherche fondamentale est frustrante par sa lenteur, car nous partons d'une page blanche et devons d\u00e9velopper de nouveaux outils. mais les membres de mon laboratoire sont d\u00e9vou\u00e9s, travaillent 12 heures par jour et ne cessent de r\u00e9fl\u00e9chir et de s'inqui\u00e9ter sur la mani\u00e8re de r\u00e9soudre les questions auxquelles nous voulons r\u00e9pondre. nous appr\u00e9cions le soutien des contribuables et des donateurs qui financent notre recherche.<\/p>\n

Qu'est-ce qui vous incite \u00e0 continuer \u00e0 travailler dans ce domaine ? <\/strong><\/p>\n

J'ai une personnalit\u00e9 obsessionnelle\/compulsive et je ne peux pas me reposer tant que je n'ai pas compris comment les choses fonctionnent. Je suis inspir\u00e9e par les personnes qui souffrent de ces affections, qui soutiennent leurs concitoyens et qui s'efforcent d'unifier la communaut\u00e9 des LGMD.<\/p>\n

Comment les patients peuvent-ils vous encourager et vous aider dans votre travail ?<\/strong><\/p>\n

\u00a0L'un des principaux obstacles auxquels nous sommes confront\u00e9s dans nos recherches est l'acc\u00e8s aux tissus humains. Bien que nous puissions apprendre beaucoup de choses en utilisant des mod\u00e8les de souris et de culture cellulaire, la compr\u00e9hension de la maladie humaine n\u00e9cessite l'utilisation de tissus humains. Les patients qui acceptent de fournir des biopsies et des informations personnelles sur l'\u00e9volution de la maladie apportent une valeur ajout\u00e9e consid\u00e9rable \u00e0 notre programme de recherche.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":4258,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,49,92],"tags":[],"class_list":["post-2716","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-lgmd2l","category-researcher"],"acf":[],"yoast_head":"\nLGMD RESEARCHER: H. 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