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      <title>NR2F1 Blog</title>
      <link>https://www.nr2f1.org</link>
      <description>Ultimi articoli su NR2F1 e sindrome di atrofia ottica Bosch-Boonstra-Schaaf</description>
      <language>it</language>
      <lastBuildDate>Mon, 05 Oct 2026 15:11:13 GMT</lastBuildDate>
      <pubDate>Mon, 05 Oct 2026 15:11:13 GMT</pubDate>
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      <item>
        <title><![CDATA[Aggiornamento sullo studio osservazionale sul riposizionamento dei farmaci]]></title>
        <link>https://www.nr2f1.org/it/news/blog/drug-repurposing-observational-study-aug2026-update</link>
        <guid>https://www.nr2f1.org/it/news/blog/drug-repurposing-observational-study-aug2026-update</guid>
        <pubDate>Wed, 02 Sep 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Aggiornamento sullo studio osservazionale sul riposizionamento dei farmaci

Siamo entusiasti di condividere con voi un importante aggiornamento sul nostro studio osservazionale sul riposizionamento dei farmaci!

Grazie per la vostra pazienza. L’avvio dello studio ha richiesto più tempo del previsto, ma siamo convinti che rappresenti un passo avanti fondamentale nella nostra missione di trovare nuove opzioni terapeutiche per le persone che vivono con BBSOAS.

Come abbiamo condiviso durante la conferenza di aprile, grazie a un finanziamento della NR2F1 Foundation, il Dr. Chow e il suo straordinario team hanno analizzato più di 1.600 farmaci già esistenti e approvati per l’uso negli Stati Uniti e in Europa. Da questa ampia attività di screening, più di 30 composti hanno mostrato risultati promettenti nei nostri modelli di moscerino della frutta per il BBSOAS. Dopo un’attenta valutazione di fattori quali sicurezza, disponibilità e bisogni specifici della nostra comunità, la selezione è stata ulteriormente ristretta a DUE farmaci.

Ci vorranno ancora circa 6–8 settimane di lavoro prima di poter condividere maggiori dettagli, ma vogliamo assicurarvi che questo progetto rappresenta una delle massime priorità della NR2F1 Foundation. Stiamo facendo tutto il possibile per avviare lo studio il prima possibile.]]></description>
      </item>
<item>
        <title><![CDATA[Benvenuta, Sarah Rogillio — la nostra nuova tirocinante in consulenza genetica!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/sarah-rogillio</link>
        <guid>https://www.nr2f1.org/it/news/blog/sarah-rogillio</guid>
        <pubDate>Sun, 16 Aug 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Benvenuta, Sarah Rogillio — la nostra nuova tirocinante in consulenza genetica!]]></description>
      </item>
<item>
        <title><![CDATA[Presentiamo la nostra nuova membro del Consiglio di Amministrazione nel Regno Unito]]></title>
        <link>https://www.nr2f1.org/it/news/blog/introducing-molly-carrow</link>
        <guid>https://www.nr2f1.org/it/news/blog/introducing-molly-carrow</guid>
        <pubDate>Thu, 04 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Presentiamo la nostra nuova membro del Consiglio di Amministrazione nel Regno Unito, Molly Carrow]]></description>
      </item>
<item>
        <title><![CDATA[La NR2F1 Foundation finanzia una nuova posizione post-dottorato biennale presso l’Università di Torino]]></title>
        <link>https://www.nr2f1.org/it/news/blog/two-year-post-doc</link>
        <guid>https://www.nr2f1.org/it/news/blog/two-year-post-doc</guid>
        <pubDate>Tue, 02 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[La NR2F1 Foundation ha assegnato un finanziamento per una posizione di ricercatore post-dottorato della durata di due anni presso l’Università di Torino, sotto la guida della Dott.ssa Silvia De Marchis]]></description>
      </item>
<item>
        <title><![CDATA[Aggiornamento dalla ricercatrice BBSOAS a tempo pieno, Dr. Elsa Wassmer]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2026-Feb-Research-Update-Elsa</link>
        <guid>https://www.nr2f1.org/it/news/blog/2026-Feb-Research-Update-Elsa</guid>
        <pubDate>Fri, 20 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Aggiornamento dalla ricercatrice BBSOAS a tempo pieno, Dr. Elsa Wassmer]]></description>
      </item>
<item>
        <title><![CDATA[Partecipa alla ricerca su BBSOAS – Date 2026]]></title>
        <link>https://www.nr2f1.org/it/news/blog/BBSOAS-research-2026-collection-dates</link>
        <guid>https://www.nr2f1.org/it/news/blog/BBSOAS-research-2026-collection-dates</guid>
        <pubDate>Wed, 18 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Negli ultimi tre anni abbiamo collaborato con COMBINEDBrain per raccogliere campioni biologici di BBSOAS (ad esempio campioni di sangue) da utilizzare in progetti di ricerca.

Come fondazione, il nostro obiettivo è raccogliere il maggior numero possibile di campioni BBSOAS dalla nostra comunità. Più campioni raccogliamo, maggiori sono le possibilità di comprendere meglio la BBSOAS.]]></description>
      </item>
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        <title><![CDATA[Want to know the latest on the Fruit Fly Drug Repurposing project?]]></title>
        <link>https://www.nr2f1.org/it/news/blog/fruit-fly-drug-repurposing-update</link>
        <guid>https://www.nr2f1.org/it/news/blog/fruit-fly-drug-repurposing-update</guid>
        <pubDate>Fri, 19 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Listen as Melissa Thelen, NR2F1 Foundation Research Chair, and Jennifer Coughlin, NR2F1 Foundation President, discuss exciting updates about the Fruit Fly Drug Repurposing Project and how you can help the future of BBSOAS Research!]]></description>
      </item>
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        <title><![CDATA[Il 7 dicembre 2025 è la Giornata di sensibilizzazione sulla BBSOAS, ma sapevate che questo giorno è anche il compleanno di Peggy, la paziente numero 1?]]></title>
        <link>https://www.nr2f1.org/it/news/blog/peggy-patient-1-birthday</link>
        <guid>https://www.nr2f1.org/it/news/blog/peggy-patient-1-birthday</guid>
        <pubDate>Sun, 07 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Il 7 dicembre 2025 è la Giornata di sensibilizzazione sul BBSOAS, ma sapevi che è anche il compleanno di Peggy, paziente numero 1?]]></description>
      </item>
<item>
        <title><![CDATA[Aggiornamento sul numero di pazienti – 25 novembre 2025]]></title>
        <link>https://www.nr2f1.org/it/news/blog/patient-count-update-Nov-2025</link>
        <guid>https://www.nr2f1.org/it/news/blog/patient-count-update-Nov-2025</guid>
        <pubDate>Tue, 25 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Per la prima volta dalla nascita della Fondazione (2018), abbiamo un conteggio ufficiale dei pazienti! Questo è il nostro secondo censimento dell’anno. Sapere quante persone sono diagnosticate ci aiuta a condividere dati significativi con la nostra comunità di scienziati, ricercatori e famiglie come la tua.]]></description>
      </item>
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        <title><![CDATA[Aggiornamento sulla ricerca: scopri le prossime novità nella scoperta del BBSOAS]]></title>
        <link>https://www.nr2f1.org/it/news/blog/research-update-2025</link>
        <guid>https://www.nr2f1.org/it/news/blog/research-update-2025</guid>
        <pubDate>Tue, 11 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Ascolta le ultime novità sul nostro progetto di riposizionamento dei farmaci e scopri in anteprima le nostre principali priorità di ricerca per il 2026 — progressi resi possibili grazie alle nostre famiglie e ai nostri sostenitori.]]></description>
      </item>
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        <title><![CDATA[Aggiornamenti sulla leadership]]></title>
        <link>https://www.nr2f1.org/it/news/blog/leadership-updates</link>
        <guid>https://www.nr2f1.org/it/news/blog/leadership-updates</guid>
        <pubDate>Tue, 30 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Carlie è stata Presidente fino ad aprile 2024, poi è passata al ruolo di Vicepresidente e da allora ha lavorato a un piano di successione per potersi liberare un po’ di più. È finalmente arrivato il momento per Carlie di passare il testimone, e siamo lieti di annunciare che Ashlee Manjon-Stierstorfer assumerà il ruolo di Vicepresidente a partire dal 1º ottobre.]]></description>
      </item>
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        <title><![CDATA[Celebrare il contributo di Contentful al nostro nuovo sito web]]></title>
        <link>https://www.nr2f1.org/it/news/blog/Celebrating-Contentful-Contribution-to-New-Website</link>
        <guid>https://www.nr2f1.org/it/news/blog/Celebrating-Contentful-Contribution-to-New-Website</guid>
        <pubDate>Mon, 15 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Siamo orgogliosi di annunciare il lancio del nuovo sito web della NR2F1 Foundation — un progetto progettato e realizzato dai nostri partner di Red Badger. Oltre al loro incredibile lavoro, questa trasformazione è stata resa possibile grazie al generoso supporto di Contentful.]]></description>
      </item>
<item>
        <title><![CDATA[Ogni diagnosi conta]]></title>
        <link>https://www.nr2f1.org/it/news/blog/every-diagnosis-matters</link>
        <guid>https://www.nr2f1.org/it/news/blog/every-diagnosis-matters</guid>
        <pubDate>Fri, 15 Aug 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Per la prima volta da quando la Fondazione è stata fondata (2018), abbiamo un conteggio dei pazienti! Negli ultimi mesi abbiamo lavorato instancabilmente per ottenere il conteggio più accurato possibile dei casi di BBSOAS in tutto il mondo.]]></description>
      </item>
<item>
        <title><![CDATA["Non preoccuparti se non sai tutto, lo saprai"]]></title>
        <link>https://www.nr2f1.org/it/news/blog/dont-worry-that-you-dont-know-you-will</link>
        <guid>https://www.nr2f1.org/it/news/blog/dont-worry-that-you-dont-know-you-will</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Questo mese presentiamo BBSOAStrong, Andrew, 9 anni, dalla Scozia, Regno Unito. La mamma, Karen, racconta la sua storia di vita con il suo incredibile figlio.]]></description>
      </item>
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        <title><![CDATA[Presentazione del Consiglio consultivo per la ricerca NR2F1]]></title>
        <link>https://www.nr2f1.org/it/news/blog/introducing-the-nr2f1-research-advisory-council</link>
        <guid>https://www.nr2f1.org/it/news/blog/introducing-the-nr2f1-research-advisory-council</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Siamo lieti di annunciare la formazione di un nuovo Consiglio consultivo per la ricerca. Il consiglio fornirà una guida esperta e una visione strategica per aiutare a orientare le priorità e le iniziative di ricerca della fondazione.]]></description>
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        <title><![CDATA[Tri4Albert raccoglie 23.000 $ per la Fondazione NR2F1!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/it/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Sostenere la fondazione NR2F1 è fondamentale perché senza di essa ci sentiremmo soli nella nostra lotta per trovare risposte e trattamenti. Certo, avremmo potuto raccogliere fondi solo per Albert, così da permettergli di pagare trattamenti e terapie private, ma abbiamo pensato che il modo migliore per avere un impatto positivo sui nostri figli fosse unirci e aiutarci a vicenda. Non abbiamo abbastanza soldi per finanziare la ricerca o le sperimentazioni farmacologiche!]]></description>
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        <title><![CDATA[Participate in BBSOAS Research! 2025 BioRepository Dates and Locations]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2025-BioRepository-Dates-and-Locations</link>
        <guid>https://www.nr2f1.org/it/news/blog/2025-BioRepository-Dates-and-Locations</guid>
        <pubDate>Wed, 16 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation is once again collaborating with COMBINEDBrain for Biorepository on the Road 2025. The foundation's goal is to collect as many BBSOAS samples as possible from the community, because the more we collect, the more we learn about BBSOAS. Dates and locations have been announced, along with answers to frequently asked questions.]]></description>
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        <title><![CDATA["A mia figlia di 56 anni è stata appena diagnosticata la malattia"]]></title>
        <link>https://www.nr2f1.org/it/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</link>
        <guid>https://www.nr2f1.org/it/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Jennifer, Presidente della Fondazione NR2F1, e Carlie, Vicepresidente e Co-Fondatrice, hanno parlato con Icle e Bobby, genitori della Georgia, della figlia 56enne Susan, a cui è stata recentemente diagnosticata la sindrome di Down-Sound (BBSOAS). I genitori hanno condiviso il loro straordinario percorso con Susan, dall'infanzia a oggi.]]></description>
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        <title><![CDATA[Organizza una raccolta fondi per la Fondazione NR2F1]]></title>
        <link>https://www.nr2f1.org/it/news/blog/host-fundraiser-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/it/news/blog/host-fundraiser-for-the-nr2f1-foundation</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Kaileigh, una madre della Carolina del Nord, racconta la sua stimolante storia su come ha organizzato una camminata comunitaria per raccogliere fondi per la BBSOAS. Dalla pianificazione dell'evento al superamento delle sfide, l'esperienza di Kaileigh dimostra che organizzare una camminata di raccolta fondi può essere gratificante e avere un grande impatto.]]></description>
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        <title><![CDATA[Incontra la studentessa volontaria Abigayle Nafus]]></title>
        <link>https://www.nr2f1.org/it/news/blog/meet-student-volunteer-abigayle-nafus</link>
        <guid>https://www.nr2f1.org/it/news/blog/meet-student-volunteer-abigayle-nafus</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Abigayle Nafus, del programma di laurea in consulenza genetica della Kean University, si è offerta volontaria presso la Fondazione NR2F1. Assiste il Presidente della Fondazione NR2F1 nel conteggio mondiale dei pazienti BBSOAS.]]></description>
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        <title><![CDATA[BBSOAS Dolore, resilienza e meraviglia]]></title>
        <link>https://www.nr2f1.org/it/news/blog/bbsoas-grief-resilience-and-wonderment</link>
        <guid>https://www.nr2f1.org/it/news/blog/bbsoas-grief-resilience-and-wonderment</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Ashlee Manjon-Stierstorfer, mamma e membro del consiglio direttivo della fondazione NR2F1, racconta i suoi sentimenti di dolore e incertezza quando a Emma (ora 7 anni) è stata diagnosticata la malattia per la prima volta e come quella sensazione non se ne vada mai del tutto, ma si trovi il modo di conviverci.]]></description>
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        <title><![CDATA[La prospettiva di un fratello sulle malattie rare]]></title>
        <link>https://www.nr2f1.org/it/news/blog/a-siblings-perspective-on-rare-disease</link>
        <guid>https://www.nr2f1.org/it/news/blog/a-siblings-perspective-on-rare-disease</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Il 10 aprile è la Giornata Nazionale dei Fratelli e Sorelle. Per questo motivo, trasformiamo aprile nel "Mese dei Fratelli e Sorelle". Per celebrare questa ricorrenza, Brian Read, Tesoriere della Fondazione NR2F1, ha gentilmente accettato di condividere la sua storia molto personale di fratello per la sua meravigliosa sorella, Stephanie, affetta dalla sindrome di Ohtahara.]]></description>
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        <title><![CDATA[Aggiornamento sulla scoperta di BBSOAS e analisi bioinformatica]]></title>
        <link>https://www.nr2f1.org/it/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</link>
        <guid>https://www.nr2f1.org/it/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[La Dott.ssa Magdalena Laugsch e il suo team presso l'Istituto di genetica umana dell'Università di Heidelberg, in Germania, hanno compiuto un passo importante nella scoperta di biomarcatori per la sindrome da atrofia ottica di Bosch-Boonstra-Schaaf (BBSOAS). Hanno condotto un'analisi completa e identificato 13 promettenti biomarcatori candidati.]]></description>
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        <title><![CDATA[Aggiornamento dal nostro ricercatore a tempo pieno BBSOAS, il dott. Wassmer]]></title>
        <link>https://www.nr2f1.org/it/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</link>
        <guid>https://www.nr2f1.org/it/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[La Dott.ssa Wassmer condivide gli ultimi sviluppi del lavoro che sta svolgendo per BBSOAS nel laboratorio del Dott. Schaaf presso l'Università di Heidelberg.]]></description>
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        <title><![CDATA[Ricerca BBSOAS - Progetto di riutilizzo dei farmaci contro la mosca della frutta]]></title>
        <link>https://www.nr2f1.org/it/news/blog/fruit-fly-drug-repurposing-project</link>
        <guid>https://www.nr2f1.org/it/news/blog/fruit-fly-drug-repurposing-project</guid>
        <pubDate>Wed, 12 Mar 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[La presidente della Fondazione NR2F1, Jennifer Coughlin, parla con il Dott. Clement Chow, Professore di Genetica Umana presso l'Università dello Utah. Chow ha condiviso alcuni interessanti spunti sulla nostra ricerca sul riutilizzo dei farmaci nel moscerino della frutta.]]></description>
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        <title><![CDATA[NR2F1 Foundation Issues Bioinformatics Analysis Grant to Dr Laugsch]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</guid>
        <pubDate>Tue, 29 Oct 2024 12:09:55 GMT</pubDate>
        <description><![CDATA[Biomarkers are the key to discovering effective and meaningful treatment The NR2F1 Foundation issued a grant to Dr Magdalena Laugsch at Heidelberg University to fund bioinformatics analysis and workflow establishment for biomarker discovery in NR2F1 and BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome) using plasma proteomics samples data. The NR2F1 Foundation has worked tirelessly over the ...]]></description>
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        <title><![CDATA[NR2F1 President Heads to D.C. for 2024 NORD Conference]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</guid>
        <pubDate>Mon, 28 Oct 2024 13:06:53 GMT</pubDate>
        <description><![CDATA[At the NORD Conference, Jen met with Terry Jo, Executive Director of COMBINEDBrain Thanks to a generous grant from NORD (National Organization for Rare Disease), Jen Coughlin, NR2F1 Foundation President attended the 3 day 2024 NORD conference in Washington D.C.  This years theme was ‘Equitable Access to Innovation’. Jen shares her experience: The benefit from \[…\]]]></description>
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        <title><![CDATA[NR2F1 Awards Conference Grant to Dr. Magdalena Laugsch]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-grant-for-research</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-grant-for-research</guid>
        <pubDate>Mon, 29 Jul 2024 14:30:46 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation issued a grant to Dr. Magdalena Laugsch to support her attending the The European Society of Human Genetics 2024 conference. Dr. Laugsch is the team leader for a lab at the Institute of Human Genetics at Heidelberg University Hospital that studies neurodevelopmental disorders related to the neural crest. The conference provided an opportunity for two members]]></description>
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        <title><![CDATA[Meet Jennifer Coughlin, New NR2f1 Foundation Board President]]></title>
        <link>https://www.nr2f1.org/it/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</link>
        <guid>https://www.nr2f1.org/it/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</guid>
        <pubDate>Thu, 16 May 2024 09:10:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin has been appointed the new President of the Board of Directors of the NR2F1 Foundation. Carlie Monnier, who has held the position since the beginning, is taking over the role of vice-president. To introduce Jennifer to the BBSOAS family and community, here is Jennifer in her own words.]]></description>
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        <title><![CDATA[2024 Family and Scientific Conference was a Resounding Success]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2024-family-scientific-conference-a-resounding-success</link>
        <guid>https://www.nr2f1.org/it/news/blog/2024-family-scientific-conference-a-resounding-success</guid>
        <pubDate>Fri, 10 May 2024 14:55:04 GMT</pubDate>
        <description><![CDATA[Two years ago, the very first NR2F1 Family and Scientific Conference was held in Orlando, Florida. Last month, the second Conference took place in Orlando on April 3 – 5. It was a resounding success with 132 in attendance, representing 11 countries and 23 US states.]]></description>
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        <title><![CDATA[2023 – The Year in Review for NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2023-the-year-in-review-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/it/news/blog/2023-the-year-in-review-nr2f1-foundation</guid>
        <pubDate>Mon, 12 Feb 2024 18:23:51 GMT</pubDate>
        <description><![CDATA[With 2024 having come to an end, we want to take a moment to look back on all that we achieved. The NR2F1 Foundation has accomplished a great deal, especially in the realm of research. Without your support, as well as that of our donors, friends, family, Scientific Advisors, COMBINEDBrain partners and the BBSOAS community, \[…\]]]></description>
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        <title><![CDATA[Research Strategy Goals]]></title>
        <link>https://www.nr2f1.org/it/news/blog/research-strategy-goals</link>
        <guid>https://www.nr2f1.org/it/news/blog/research-strategy-goals</guid>
        <pubDate>Mon, 30 Oct 2023 12:42:16 GMT</pubDate>
        <description><![CDATA[First research strategy meeting In January this year we held our first ever Strategic Planning session and developed our 5-year strategy (check it out here on our website). On October 7, 2023, we held our first Research Strategy session at the University of Denver.  Along with our board members, we brought together the NR2F1 Scientific \[…\]]]></description>
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        <title><![CDATA[Sviluppo di una strategia di ricerca per NR2F1, 2023-2025]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</guid>
        <pubDate>Wed, 20 Sep 2023 17:55:38 GMT</pubDate>
        <description><![CDATA[La Fondazione NR2F1 ospiterà un incontro sullo sviluppo della ricerca il mese prossimo presso l'Università di Denver, in Colorado, per l'intera giornata di sabato 7 ottobre 2023. Tra i partecipanti ci saranno membri del consiglio di amministrazione della Fondazione NR2F1, consulenti scientifici e famiglie BBSOAS locali che vivono nella zona.]]></description>
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        <title><![CDATA[10th Annual Million Dollar Bike Ride Was a Success!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</link>
        <guid>https://www.nr2f1.org/it/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</guid>
        <pubDate>Tue, 11 Jul 2023 14:33:45 GMT</pubDate>
        <description><![CDATA[June 10th, 2023, was a beautiful sunny day in Philadelphia, PA, as hundreds of cyclists rode to raise money for rare disease research. Riders had a choice of what distance to ride, with segments of 10, 32, and 70 miles available. All routes started and ended downtown at the campus of the University of Pennsylvania. \[…\]]]></description>
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        <title><![CDATA[Baking a Big Impact]]></title>
        <link>https://www.nr2f1.org/it/news/blog/baking-a-big-impact</link>
        <guid>https://www.nr2f1.org/it/news/blog/baking-a-big-impact</guid>
        <pubDate>Tue, 13 Jun 2023 11:49:26 GMT</pubDate>
        <description><![CDATA[Written by Sarah Kirkman, Edith Coughlin’s ‘Aunty Sais’ From August 2022 – March 2023, just by baking, I managed to raise $2,582 or £2053! Can you believe it? I couldn’t! My beautiful and incredible niece, Edith Coughlin, has BBSOAS. Her parents (Tim and Jennifer, my sister) do as much as they can to raise awareness \[…\]]]></description>
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        <title><![CDATA[Celebrating the Launch of the BBSOAS Clinic]]></title>
        <link>https://www.nr2f1.org/it/news/blog/celebrating-launch-of-bbsoas-clinic</link>
        <guid>https://www.nr2f1.org/it/news/blog/celebrating-launch-of-bbsoas-clinic</guid>
        <pubDate>Tue, 09 May 2023 12:39:35 GMT</pubDate>
        <description><![CDATA[Launch Day – April 21, 2023 We are witnessing history in the making! In collaboration with a multi-disciplinary CVI team led by Dr. Veeral Shah, the NR2F1 Foundation helped make history with the launch of the first day of the BBSOAS Clinic on April 21st at Cincinnati Children’s Hospital. Carlie and \[…\]]]></description>
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        <title><![CDATA[2023 Million Dollar Bike Ride Fundraising for NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/it/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</guid>
        <pubDate>Tue, 11 Apr 2023 13:39:08 GMT</pubDate>
        <description><![CDATA[On Saturday, June 10, 2023, the 10th Annual Million Dollar Bike Ride (MDBR) will take place in Philadelphia, Pennsylvania. Hosted by the Penn Medicine Orphan Disease Center to raise money for rare disease research, the NR2F1 Foundation will be participating as an Independent Fundraising Team. This means that after paying a participation fee, all funds \[…\]]]></description>
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        <title><![CDATA[Launch of the First BBSOAS CVI Clinic]]></title>
        <link>https://www.nr2f1.org/it/news/blog/first-bbsoas-cvi-clinic</link>
        <guid>https://www.nr2f1.org/it/news/blog/first-bbsoas-cvi-clinic</guid>
        <pubDate>Thu, 16 Mar 2023 11:52:34 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation is making history with the launch of the first BBSOAS Center of Excellence on April 21, 2023. The BBSOAS Center of Excellence, led by Dr. Veeral Shah and his team who work at Cincinnati Children’s Hospital, is a major milestone for the NR2F1 Foundation and our community! Individuals with BBSOAS will be invited \[…\]]]></description>
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        <title><![CDATA[NR2F1 Foundation Strategic Planning Meeting]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-strategic-planning-meeting</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-strategic-planning-meeting</guid>
        <pubDate>Mon, 13 Feb 2023 16:44:35 GMT</pubDate>
        <description><![CDATA[No non-profit organization has ever said “we have too much time and too much money”! The need for a strategic plan “Let’s be honest, as a small nonprofit, we are more limited by our resources and time than our opportunities to create impact. This is why we have developed a strategic plan in order to increasingly deliver \[…\]]]></description>
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        <title><![CDATA[NR2F1 Foundation Looks Back at 2022]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-looks-back-at-2022</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-looks-back-at-2022</guid>
        <pubDate>Fri, 06 Jan 2023 18:12:22 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation had a tremendous year of achievements in 2022, so as the year has come to a close, we look back and reflect on all that has happened during the last 12 months. These accomplishments have only been possible with the help of our families, our donors and friends, and the BBSOAS community. 2022 \[…\]]]></description>
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        <title><![CDATA[NR2F1 Research Fundraising Campaign]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-research-fundraising-campaign</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-research-fundraising-campaign</guid>
        <pubDate>Wed, 07 Dec 2022 15:08:02 GMT</pubDate>
        <description><![CDATA[One of the primary objectives of the NR2F1 Foundation has been the expansion of our global research network for BBSOAS research. We will provide initial funds for a project called TRIP BBSOAS (Translational Research Investigating Phenotypes of BBSOAS). The Foundation is very pleased to have had a role in connecting two experts and researchers in \[…\]]]></description>
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        <title><![CDATA[NR2F1 Foundation Chicago Marathon Fundraising Results]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</guid>
        <pubDate>Wed, 02 Nov 2022 09:18:43 GMT</pubDate>
        <description><![CDATA[On October 9, 2022, the 2022 Bank of America Chicago Marathon took place, with Tim Coughlin and his best friend Chris Schastok, running to raise funds for the NR2F1 Foundation. Tim’s youngest daughter Edith had been recently diagnosed with BBSOAS so Tim and Chris were motivated to help fund continuing research. Marathon donation results With \[…\]]]></description>
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        <title><![CDATA[2022 Report on Rare Disease Genetic Testing]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2022-report-on-rare-disease-genetic-testing</link>
        <guid>https://www.nr2f1.org/it/news/blog/2022-report-on-rare-disease-genetic-testing</guid>
        <pubDate>Tue, 11 Oct 2022 05:32:49 GMT</pubDate>
        <description><![CDATA[NORD (National Organization for Rare Disorders), is a 501(c)(3) organization dedicated to individuals with rare diseases and the organizations that serve them. With over 300 patient organization members, NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. Their database for reports on more \[…\]]]></description>
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        <title><![CDATA[Irish Para-Athlete Diagnosed with BBSOAS]]></title>
        <link>https://www.nr2f1.org/it/news/blog/irish-para-athlete-diagnosed-with-bbsoas</link>
        <guid>https://www.nr2f1.org/it/news/blog/irish-para-athlete-diagnosed-with-bbsoas</guid>
        <pubDate>Wed, 05 Oct 2022 12:47:10 GMT</pubDate>
        <description><![CDATA[Darragh Andrews is a 24-year-old para-athlete who lives in Belfast, Northern Ireland in the United Kingdom. Para-athletics is the sport of athletics practiced by people with a disability as a parasport. Darragh (pronounced Da-Ra) was recently diagnosed with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). Carrie Monnier, President of The NR2F1 Foundation, interviewed Darragh over Zoom, about \[…\]]]></description>
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        <title><![CDATA[Chicago Marathon Fundraiser for NR2F1 Foundation Research]]></title>
        <link>https://www.nr2f1.org/it/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</link>
        <guid>https://www.nr2f1.org/it/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</guid>
        <pubDate>Tue, 23 Aug 2022 11:06:40 GMT</pubDate>
        <description><![CDATA[Edith In March of 2020, 12 months-old Edith received the diagnosis of having BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. It is one of the rarest neurological disorders in the world, with only a few hundred known cases. As parents of a child receiving such a diagnosis, Jennifer and Tim Coughlin walked out of \[…\]]]></description>
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        <title><![CDATA[Edith: One Family’s Story with BBSOAS]]></title>
        <link>https://www.nr2f1.org/it/news/blog/edith-one-familys-story-with-bbsoas</link>
        <guid>https://www.nr2f1.org/it/news/blog/edith-one-familys-story-with-bbsoas</guid>
        <pubDate>Tue, 09 Aug 2022 16:08:19 GMT</pubDate>
        <description><![CDATA[This was sent to us by Jennifer, mother of 17-month-old Edith, who was recently diagnosed with BBSOAS. Jennifer and her husband Tim also have an older daughter Alice, who is 3 ½ years old. This is their story, in Jennifer’s own words. Background to Edith being diagnosed Pretty quickly after Edith was born, we started \[…\]]]></description>
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        <title><![CDATA[NR2F1 Foundation Receives Matching Grant]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-receives-matching-grant</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-receives-matching-grant</guid>
        <pubDate>Thu, 07 Jul 2022 16:14:43 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation is the recent recipient of a $17,000 grant that will go towards researching the mechanisms of how BBSOAS works. The funding will be used for studies using mouse models to develop new medications. Dr. Kyle J. Horning and Dr. Terry Jo Bichell, PhD, MPH, of COMBINEDBrain initiated the grant application and were \[…\]]]></description>
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        <title><![CDATA[NR2F1 Foundation Welcomes Five New Members to the Board of Directors]]></title>
        <link>https://www.nr2f1.org/it/news/blog/new-members-to-the-board-of-directors</link>
        <guid>https://www.nr2f1.org/it/news/blog/new-members-to-the-board-of-directors</guid>
        <pubDate>Wed, 08 Jun 2022 12:11:03 GMT</pubDate>
        <description><![CDATA[NR2F1 Foundation is excited to announce that we have voted in five new members to our board of directors! This will increase the number of board members from six up to twelve. Eleven members have voting privileges and all five new members have joined as a result of being inspired after attending our Family & \[…\]]]></description>
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        <title><![CDATA[NR2F1 Scientific Conference for Families Was a Success!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-scientific-conference-for-families-was-a-success</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-scientific-conference-for-families-was-a-success</guid>
        <pubDate>Mon, 09 May 2022 12:53:09 GMT</pubDate>
        <description><![CDATA[The 2022 NR2F1 Family and Scientific Conference was held this year in Orlando, FL, on April 6 – 8. It was attended in-person and virtually by families from around the world who have a family member that has been diagnosed with BBSOAS. Ten countries were represented including Chile, Armenia, Germany, France, Israel, and Sweden, and \[…\]]]></description>
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        <title><![CDATA[NR2F1 Foundation is a New Member of the Rare Epilepsy Network]]></title>
        <link>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</link>
        <guid>https://www.nr2f1.org/it/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</guid>
        <pubDate>Fri, 08 Apr 2022 16:24:47 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation has joined the Rare Epilepsy Network, a collaborative effort of rare epilepsies. Because over 50% of individuals with BBSOAS are also diagnosed with epilepsy, being part of an epilepsy community not only provides support, but also information and other valued resources for those with the congenital disorder. How REN began REN, or \[…\]]]></description>
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        <title><![CDATA[Holiday Guides for BBSOAS Families and Their Supporters]]></title>
        <link>https://www.nr2f1.org/it/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</link>
        <guid>https://www.nr2f1.org/it/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</guid>
        <pubDate>Thu, 18 Nov 2021 16:29:26 GMT</pubDate>
        <description><![CDATA[]]></description>
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        <title><![CDATA[BBSOAS Grandparent Support Group]]></title>
        <link>https://www.nr2f1.org/it/news/blog/bbsoas-grandparent-support-group</link>
        <guid>https://www.nr2f1.org/it/news/blog/bbsoas-grandparent-support-group</guid>
        <pubDate>Thu, 18 Nov 2021 16:24:02 GMT</pubDate>
        <description><![CDATA[]]></description>
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        <title><![CDATA[Meet Zeb! An exclusive interview]]></title>
        <link>https://www.nr2f1.org/it/news/blog/exclusive-interview-with-zeb</link>
        <guid>https://www.nr2f1.org/it/news/blog/exclusive-interview-with-zeb</guid>
        <pubDate>Thu, 18 Nov 2021 16:14:31 GMT</pubDate>
        <description><![CDATA[Click the image to watch the video. Meet Zeb from the Netherlands, a young man who lives with a very rare NR2F1 disease caused by a NR2F1 gene variant, Bosch-Boonstra-Schaaf optic atrophy syndrome, or BBSOAS.  This is the first-ever interview of someone living with BBSOAS and he and his mom Mandy talk with Carlie Monnier]]></description>
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        <title><![CDATA[2021 BBSOAS Research Update]]></title>
        <link>https://www.nr2f1.org/it/news/blog/2021-research-update</link>
        <guid>https://www.nr2f1.org/it/news/blog/2021-research-update</guid>
        <pubDate>Thu, 18 Nov 2021 16:07:47 GMT</pubDate>
        <description><![CDATA[October marked the first BBSOAS collaborative research meeting with Michele Studer (France), Patrick Yu Wai Man (England), Danielle Bosch and Ninke Boonstra (Netherlands), Veeral Shah, Jane Edmond, Nilesh Desai, Sophia and Ming Jer Tsai (all USA), and Magdalena Laugsch and Christian Schaaf from Germany. These researchers who have all focused on different aspects of NR2F1 \[…\]]]></description>
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        <title><![CDATA[Meet Simon from Chile!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/meet-simon-from-chile</link>
        <guid>https://www.nr2f1.org/it/news/blog/meet-simon-from-chile</guid>
        <pubDate>Thu, 18 Nov 2021 15:51:28 GMT</pubDate>
        <description><![CDATA[Mom, Cecilia shares with us all about Simon. Cuantos años tiene Simón, y cómo  escogieron su nombre? How old is Simón and how did you choose his name? Simón tiene 4 años recién cumplidos. Fue difícil escoger el nombre, de un listado de muchos nombres que me gustaban junto a mi familia fui eligiendo uno que fuera fácil \[…\]]]></description>
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        <title><![CDATA[Meet 4 yr old Emma!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/emma</link>
        <guid>https://www.nr2f1.org/it/news/blog/emma</guid>
        <pubDate>Thu, 18 Nov 2021 15:44:23 GMT</pubDate>
        <description><![CDATA[Mom Ashlee shares with us all about Emma. How did you choose the name Emma? Her first name was chosen before we even started the process to have her. Emma is Diana’s grandmother’s name and she had always wanted to give that name to her daughter. Luckily for her, I too love the name so \[…\]]]></description>
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        <title><![CDATA[Meet Charly from Lyon, France!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/charly</link>
        <guid>https://www.nr2f1.org/it/news/blog/charly</guid>
        <pubDate>Thu, 18 Nov 2021 14:23:14 GMT</pubDate>
        <description><![CDATA[Angélique shares with us all about Charly from Lyon, France. (Translated into English by Carlie Monnier) Comment avez-vous choisi le prénom de Charly? (How did you choose the name Charly?) C’est moi (Angélique) qui ait choisi son prénom car j’aime beaucoup l’acteur Charlie Chaplin. (I (Angélique) chose his name because I really like the actor \[…\]]]></description>
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        <title><![CDATA[Meet 4 yr old Ebony from Australia!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/ebony</link>
        <guid>https://www.nr2f1.org/it/news/blog/ebony</guid>
        <pubDate>Thu, 18 Nov 2021 14:07:20 GMT</pubDate>
        <description><![CDATA[  Mom, Kristy shares with us all about Ebony.  How did you choose the name Ebony? We had a list of names that we liked but we couldn’t decide so we waited until she was born to see what name suited her character. Three words that describe Ebony: Adventurous, curious, cute How and when was \[…\]]]></description>
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        <title><![CDATA[Meet 3 yr old Aydn!-  NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/it/news/blog/meet-3-yr-old-aydn</link>
        <guid>https://www.nr2f1.org/it/news/blog/meet-3-yr-old-aydn</guid>
        <pubDate>Thu, 18 Nov 2021 13:59:23 GMT</pubDate>
        <description><![CDATA[Mom, Taleda shares with us all about her son Adyn. How did you choose the name Adyn? We chose the name Aydn due to a bet between my husband and I. We made a deal that if I were to birth a girl, I would name her. If I were to have a boy, he \[…\]]]></description>
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        <title><![CDATA[A Day in the Life of Henry (Click to read each slide)]]></title>
        <link>https://www.nr2f1.org/it/news/blog/henry</link>
        <guid>https://www.nr2f1.org/it/news/blog/henry</guid>
        <pubDate>Thu, 18 Nov 2021 13:35:21 GMT</pubDate>
        <description><![CDATA[]]></description>
      </item>
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        <title><![CDATA[Sassy – Intuitive – DETERMINED…Meet 6 yr old Brooklyn from Florida!]]></title>
        <link>https://www.nr2f1.org/it/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</link>
        <guid>https://www.nr2f1.org/it/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</guid>
        <pubDate>Thu, 18 Nov 2021 13:28:36 GMT</pubDate>
        <description><![CDATA[Brooklyn’s mom, Patience shares with us all about Brooklyn and the BBSOAS life. How old is Brooklyn and how did you choose her name? Brooklyn is 6yrs old and I chose her name because of its meaning of water and stream.]]></description>
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        <title><![CDATA[First International BBSOAS Awareness Day]]></title>
        <link>https://www.nr2f1.org/it/news/blog/first-international-bbsoas-awareness-day</link>
        <guid>https://www.nr2f1.org/it/news/blog/first-international-bbsoas-awareness-day</guid>
        <pubDate>Mon, 01 Nov 2021 10:54:28 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation Global Alliance announces that the first International BBSOAS Awareness Day will be on December 7, 2021. BoschBoonstraSchaaf optic atrophy syndrome, also known as BBSOAS, is a very rare neurological disorder caused by variants of the NR2F1 gene. Currently there are only about 250 individuals diagnosed with the syndrome worldwide. The NR2F1 Foundation, \[…\]]]></description>
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    </channel>
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