{"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\/it\/lgmd2l\/2019\/04\/24\/lgmd-researcher-hartzell\/","title":{"rendered":"RICERCATORE LGMD: H. Criss Hartzell"},"content":{"rendered":"
\"\"<\/figure>\n

\"LA LGMD PUNTA I RIFLETTORI SULLA RICERCA\".<\/strong><\/p>\n

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

Affiliazione:\u00a0 <\/strong>Scuola di Medicina dell'Universit\u00e0 Emory<\/p>\n

Ruolo o posizione:\u00a0 <\/strong>Professore<\/p>\n

Che tipo di istruzione e formazione ha seguito per arrivare alla sua posizione attuale?<\/strong><\/p>\n

Laurea all'Universit\u00e0 di Lawrence, specializzazione in chimica e biologia.<\/p>\n

Dottorato di ricerca presso la Johns Hopkins University in Biologia.<\/p>\n

Ricerca post-dottorato presso il Dipartimento di Neurobiologia della Harvard Medical School<\/p>\n

Cosa l'ha spinta a intraprendere una carriera nella ricerca e nello studio della distrofia muscolare in particolare?<\/strong><\/p>\n

Mi sono sempre interessato alla scienza fin dalla pi\u00f9 tenera et\u00e0. All'universit\u00e0 lessi un articolo di Scientific American sulla teoria del ponte trasversale della contrazione muscolare e rimasi affascinato dall'idea che il muscolo fosse fondamentalmente una macchina molecolare. Il mio lavoro di dottorato ha studiato i recettori dell'acetilcolina alla giunzione neuromuscolare e ha portato alla scoperta che il numero di recettori dell'acetilcolina alla giunzione neuromuscolare era ridotto nella miastenia gravis. Sono stato borsista dell'Associazione per la distrofia muscolare come postdoc ad Harvard.<\/p>\n

Quali argomenti state studiando?<\/strong><\/p>\n

\u00a0Stiamo studiando la proteina ANO5. Le mutazioni di ANO5 sono le 4th<\/sup> La causa pi\u00f9 comune della LGMD, ma non si sa quasi nulla di cosa faccia ANO5 e di come funzioni. Riteniamo che sia coinvolto nella riparazione della membrana muscolare. Studiamo questo problema a livello cellulare e molecolare.<\/p>\n

In che modo il suo lavoro aiuter\u00e0 i pazienti? \u00c8 di natura pi\u00f9 scientifica o potrebbe diventare un trattamento per la LGMD.<\/strong>o MD<\/strong>in generale?<\/strong><\/p>\n

Riteniamo che la comprensione della biologia molecolare e cellulare di base dell'ANO5 sia un prerequisito per lo sviluppo di terapie per questa forma di LGMD (2L). Riteniamo inoltre che le conoscenze acquisite su come avviene la riparazione della membrana muscolare forniranno nuovi indizi per le terapie di altre LGMD.<\/p>\n

Cosa vorrebbe che i pazienti e gli altri interessati alla LGMD sapessero sulla ricerca (sui vostri progetti e sul campo in generale)?<\/strong><\/p>\n

La ricerca di base \u00e8 frustrantemente lenta perch\u00e9 partiamo da una tabula rasa e dobbiamo sviluppare nuovi strumenti. tuttavia, le persone del mio laboratorio sono impegnate, lavorano 12 ore al giorno e raramente smettono di pensare e preoccuparsi di come risolvere le domande a cui vogliamo rispondere. apprezziamo il sostegno dei contribuenti e dei donatori che finanziano la nostra ricerca.<\/p>\n

Cosa la ispira a continuare a lavorare in questo campo? <\/strong><\/p>\n

Ho una personalit\u00e0 ossessiva\/compulsiva e non posso riposare finch\u00e9 non capisco come funzionano le cose. Sono ispirata dalle persone che soffrono di questi disturbi e che sostengono i loro compagni e lavorano per unificare la comunit\u00e0 LGMD.<\/p>\n

In che modo i pazienti possono incoraggiarvi e aiutare il vostro lavoro?<\/strong><\/p>\n

\u00a0Un ostacolo importante che dobbiamo affrontare nella nostra ricerca \u00e8 l'accesso ai tessuti umani. Mentre possiamo imparare molto utilizzando modelli di topi e colture cellulari, la comprensione della malattia umana richiede l'uso di tessuti umani. I pazienti disposti a fornire biopsie e informazioni personali sulla progressione della malattia aggiungono un enorme valore al nostro programma di ricerca.<\/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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