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      <title>NR2F1 Blog</title>
      <link>https://www.nr2f1.org</link>
      <description>Neueste Blogbeiträge über NR2F1 und Bosch-Boonstra-Schaaf Optikatrophy</description>
      <language>de</language>
      <lastBuildDate>Mon, 05 Oct 2026 15:11:14 GMT</lastBuildDate>
      <pubDate>Mon, 05 Oct 2026 15:11:14 GMT</pubDate>
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      <item>
        <title><![CDATA[Update zur Beobachtungsstudie zur Arzneimittel-Wiederverwendung]]></title>
        <link>https://www.nr2f1.org/de/news/blog/drug-repurposing-observational-study-aug2026-update</link>
        <guid>https://www.nr2f1.org/de/news/blog/drug-repurposing-observational-study-aug2026-update</guid>
        <pubDate>Wed, 02 Sep 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Aktuelles zur Beobachtungsstudie zur Wiederverwendung bestehender Medikamente

Wir freuen uns sehr, Ihnen ein Update zu unserer Beobachtungsstudie zur Wiederverwendung bestehender Medikamente geben zu können!

Vielen Dank für Ihre Geduld. Der Start der Studie hat etwas länger gedauert als ursprünglich erwartet. Dennoch sind wir überzeugt, dass diese Studie einen wichtigen Schritt auf unserem Weg darstellt, neue Behandlungsmöglichkeiten für Menschen mit BBSOAS zu finden.

Wie wir bei unserer Konferenz im April berichtet haben, haben Dr. Chow und sein großartiges Team dank der Förderung durch die NR2F1 Foundation mehr als 1.600 bereits zugelassene Medikamente untersucht, die in den USA und Europa eingesetzt werden. Bei diesem umfangreichen Screening zeigten mehr als 30 Wirkstoffe vielversprechende Ergebnisse in unseren Fruchtfliegenmodellen von BBSOAS. Nach sorgfältiger Prüfung von Faktoren wie Sicherheit, Verfügbarkeit und den besonderen Bedürfnissen unserer Gemeinschaft konnte die Auswahl schließlich auf ZWEI Medikamente eingegrenzt werden.

Bis wir weitere Einzelheiten bekannt geben können, liegen noch etwa 6–8 Wochen Arbeit vor uns. Bitte seien Sie versichert: Dieses Projekt hat für die NR2F1 Foundation höchste Priorität, und wir setzen alles daran, die Studie so schnell wie möglich zu starten.]]></description>
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        <title><![CDATA[Herzlich willkommen, Sarah Rogillio – unsere neue Praktikantin für genetische Beratung!]]></title>
        <link>https://www.nr2f1.org/de/news/blog/sarah-rogillio</link>
        <guid>https://www.nr2f1.org/de/news/blog/sarah-rogillio</guid>
        <pubDate>Sun, 16 Aug 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Herzlich willkommen, Sarah Rogillio – unsere neue Praktikantin für genetische Beratung!]]></description>
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        <title><![CDATA[Vorstellung unseres neuen britischen Vorstandsmitglieds]]></title>
        <link>https://www.nr2f1.org/de/news/blog/introducing-molly-carrow</link>
        <guid>https://www.nr2f1.org/de/news/blog/introducing-molly-carrow</guid>
        <pubDate>Thu, 04 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Vorstellung unseres neuen britischen Vorstandsmitglieds, Molly Carrow]]></description>
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        <title><![CDATA[Die NR2F1 Foundation finanziert eine neue zweijährige Postdoktorandenstelle an der Universität Turin]]></title>
        <link>https://www.nr2f1.org/de/news/blog/two-year-post-doc</link>
        <guid>https://www.nr2f1.org/de/news/blog/two-year-post-doc</guid>
        <pubDate>Tue, 02 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Die NR2F1 Foundation hat die Finanzierung einer zweijährigen Postdoktorandenstelle an der Universität Turin in Italien unter der Leitung von Dr. Silvia De Marchis bewilligt]]></description>
      </item>
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        <title><![CDATA[Aktuelles Update unserer hauptberuflichen BBSOAS-Forscherin Dr. Elsa Wassmer]]></title>
        <link>https://www.nr2f1.org/de/news/blog/2026-Feb-Research-Update-Elsa</link>
        <guid>https://www.nr2f1.org/de/news/blog/2026-Feb-Research-Update-Elsa</guid>
        <pubDate>Fri, 20 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Aktuelles Update unserer hauptberuflichen BBSOAS-Forscherin Dr. Elsa Wassmer]]></description>
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        <title><![CDATA[Teilnahme an der BBSOAS-Forschung – Termine 2026]]></title>
        <link>https://www.nr2f1.org/de/news/blog/BBSOAS-research-2026-collection-dates</link>
        <guid>https://www.nr2f1.org/de/news/blog/BBSOAS-research-2026-collection-dates</guid>
        <pubDate>Wed, 18 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[In den vergangenen drei Jahren haben wir mit COMBINEDBrain zusammengearbeitet, um BBSOAS-Bioproben (z. B. Blutproben) für Forschungsprojekte zu sammeln.

Als Stiftung ist es unser Ziel, so viele BBSOAS-Proben wie möglich aus unserer Gemeinschaft zu sammeln. Je mehr Proben wir haben, desto besser können wir BBSOAS verstehen.]]></description>
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        <title><![CDATA[Want to know the latest on the Fruit Fly Drug Repurposing project?]]></title>
        <link>https://www.nr2f1.org/de/news/blog/fruit-fly-drug-repurposing-update</link>
        <guid>https://www.nr2f1.org/de/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>
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        <title><![CDATA[Der 7. Dezember 2025 ist der BBSOAS-Aufklärungstag, aber wussten Sie, dass dieser Tag auch der Geburtstag von Peggy – Patientin Nr. 1 – ist?]]></title>
        <link>https://www.nr2f1.org/de/news/blog/peggy-patient-1-birthday</link>
        <guid>https://www.nr2f1.org/de/news/blog/peggy-patient-1-birthday</guid>
        <pubDate>Sun, 07 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Der 7. Dezember 2025 ist der BBSOAS-Awareness-Tag, aber wusstest du, dass es auch Peggys Geburtstag ist – Patientin Nr. 1?]]></description>
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        <title><![CDATA[Aktualisierung der Patientenzahl – 25. November 2025]]></title>
        <link>https://www.nr2f1.org/de/news/blog/patient-count-update-Nov-2025</link>
        <guid>https://www.nr2f1.org/de/news/blog/patient-count-update-Nov-2025</guid>
        <pubDate>Tue, 25 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Zum ersten Mal seit der Gründung der Stiftung (2018) haben wir jetzt eine Patientenzählung! Dies ist unsere zweite Erhebung in diesem Jahr. Die Anzahl der Diagnosen hilft uns, bedeutende Daten mit Wissenschaftlern, Forschern und Familien wie Ihrer zu teilen.]]></description>
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        <title><![CDATA[Forschungsupdate: Erfahren Sie, was als Nächstes in der BBSOAS-Forschung kommt]]></title>
        <link>https://www.nr2f1.org/de/news/blog/research-update-2025</link>
        <guid>https://www.nr2f1.org/de/news/blog/research-update-2025</guid>
        <pubDate>Tue, 11 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Erfahren Sie das Neueste über unser Projekt zur Arzneimittel-Neupositionierung und erhalten Sie einen Vorgeschmack auf unsere wichtigsten Forschungsprioritäten für 2026 – Fortschritte, die durch unsere Familien und Unterstützer möglich gemacht wurden.]]></description>
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        <title><![CDATA[Führungswechsel]]></title>
        <link>https://www.nr2f1.org/de/news/blog/leadership-updates</link>
        <guid>https://www.nr2f1.org/de/news/blog/leadership-updates</guid>
        <pubDate>Tue, 30 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Carlie war bis April 2024 Präsidentin, trat dann zur Vizepräsidentin zurück und arbeitete seither an einem Nachfolgeplan, um sich etwas mehr Freiraum zu schaffen. Nun ist es endlich soweit: Ashlee Manjon-Stierstorfer wird ab dem 1. Oktober das Amt der Vizepräsidentin übernehmen – wir freuen uns sehr, dies bekanntzugeben.]]></description>
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        <title><![CDATA[Feier von Contentfuls Beitrag zu unserer neuen Website]]></title>
        <link>https://www.nr2f1.org/de/news/blog/Celebrating-Contentful-Contribution-to-New-Website</link>
        <guid>https://www.nr2f1.org/de/news/blog/Celebrating-Contentful-Contribution-to-New-Website</guid>
        <pubDate>Mon, 15 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Wir freuen uns, den Start der brandneuen Website der NR2F1 Foundation bekannt zu geben — ein Projekt, das von unseren Partnern bei Red Badger entworfen und umgesetzt wurde. Neben ihrer hervorragenden Arbeit wurde diese Transformation durch die großzügige Unterstützung von Contentful ermöglicht.]]></description>
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        <title><![CDATA[Jede Diagnose zählt]]></title>
        <link>https://www.nr2f1.org/de/news/blog/every-diagnosis-matters</link>
        <guid>https://www.nr2f1.org/de/news/blog/every-diagnosis-matters</guid>
        <pubDate>Fri, 15 Aug 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Zum ersten Mal seit der Gründung der Stiftung (2018) verfügen wir über eine Patientenzahl! In den letzten Monaten haben wir unermüdlich daran gearbeitet, die weltweit genaueste Zählung der BBSOAS-Fälle zu erhalten.]]></description>
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        <title><![CDATA[„Mach dir keine Sorgen, dass du nicht alles darüber weißt, das wirst du schon.“]]></title>
        <link>https://www.nr2f1.org/de/news/blog/dont-worry-that-you-dont-know-you-will</link>
        <guid>https://www.nr2f1.org/de/news/blog/dont-worry-that-you-dont-know-you-will</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Diesen Monat stellen wir BBSOAStrong vor, den 9-jährigen Andrew aus Schottland, Großbritannien. Mutter Karen erzählt ihre Geschichte vom Leben mit ihrem unglaublichen Sohn.]]></description>
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        <title><![CDATA[Vorstellung des NR2F1-Forschungsbeirats]]></title>
        <link>https://www.nr2f1.org/de/news/blog/introducing-the-nr2f1-research-advisory-council</link>
        <guid>https://www.nr2f1.org/de/news/blog/introducing-the-nr2f1-research-advisory-council</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Wir freuen uns, die Gründung eines neuen Forschungsbeirats bekannt zu geben. Der Beirat wird mit fachkundiger Beratung und strategischen Erkenntnissen dazu beitragen, die Forschungsprioritäten und -initiativen der Stiftung zu steuern.]]></description>
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        <title><![CDATA[Tri4Albert sammelt 23.000 $ für die NR2F1 Foundation!]]></title>
        <link>https://www.nr2f1.org/de/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/de/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Die Unterstützung der NR2F1-Stiftung ist so wichtig, denn ohne sie würden wir uns in unserem Kampf um Antworten und Behandlungen so allein fühlen. Natürlich hätten wir auch Geld für Albert sammeln können, um private Behandlungen/Therapien zu finanzieren, aber wir waren überzeugt, dass wir unsere Kinder am meisten positiv beeinflussen können, wenn wir zusammenkommen und uns gegenseitig helfen. Wir haben nicht genug Geld, um Forschung oder Medikamentenstudien selbst zu finanzieren!]]></description>
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        <title><![CDATA[Participate in BBSOAS Research! 2025 BioRepository Dates and Locations]]></title>
        <link>https://www.nr2f1.org/de/news/blog/2025-BioRepository-Dates-and-Locations</link>
        <guid>https://www.nr2f1.org/de/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[„Bei meiner 56-jährigen Tochter wurde gerade die Diagnose gestellt“]]></title>
        <link>https://www.nr2f1.org/de/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</link>
        <guid>https://www.nr2f1.org/de/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, Präsidentin der NR2F1 Foundation, und Carlie, Vizepräsidentin und Mitgründerin, sprachen mit Icle und Bobby, Eltern aus Georgia, über ihre 56-jährige Tochter Susan, bei der kürzlich BBSOAS diagnostiziert wurde. Die Eltern erzählten von ihrer erstaunlichen Reise mit Susan von der Kindheit bis heute.]]></description>
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        <title><![CDATA[Inspirieren Sie Veränderungen: Veranstalten Sie Ihre eigene Spendenaktion für die NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/de/news/blog/host-fundraiser-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/de/news/blog/host-fundraiser-for-the-nr2f1-foundation</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Kaileigh, eine Mutter aus North Carolina, erzählt ihre inspirierende Geschichte, wie sie einen Spendenlauf für BBSOAS organisierte. Von der Planung bis zur Bewältigung der Herausforderungen zeigt Kaileighs Erfahrung, dass die Organisation eines Spendenlaufs lohnend sein und große Wirkung erzielen kann.]]></description>
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        <title><![CDATA[Lernen Sie die studentische Freiwillige Abigayle Nafus kennen]]></title>
        <link>https://www.nr2f1.org/de/news/blog/meet-student-volunteer-abigayle-nafus</link>
        <guid>https://www.nr2f1.org/de/news/blog/meet-student-volunteer-abigayle-nafus</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Abigayle Nafus vom Graduiertenprogramm für genetische Beratung der Kean University engagiert sich ehrenamtlich bei der NR2F1 Foundation. Sie unterstützt den Präsidenten der NR2F1 Foundation bei der weltweiten Zählung der BBSOAS-Patienten.]]></description>
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        <title><![CDATA[BBSOAS Trauer, Resilienz und Staunen]]></title>
        <link>https://www.nr2f1.org/de/news/blog/bbsoas-grief-resilience-and-wonderment</link>
        <guid>https://www.nr2f1.org/de/news/blog/bbsoas-grief-resilience-and-wonderment</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Ashlee Manjon-Stierstorfer, Mutter und Vorstandsmitglied der NR2F1 Foundation, erzählt von ihren Gefühlen der Trauer und Unsicherheit, als Emma (jetzt 7 Jahre alt) die Diagnose erhielt, und davon, dass dieses Gefühl nie ganz verschwindet, man aber Wege findet, damit zu leben.]]></description>
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        <title><![CDATA[Die Perspektive eines Geschwisters auf seltene Krankheiten]]></title>
        <link>https://www.nr2f1.org/de/news/blog/a-siblings-perspective-on-rare-disease</link>
        <guid>https://www.nr2f1.org/de/news/blog/a-siblings-perspective-on-rare-disease</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Der 10. April ist der nationale Geschwistertag. Deshalb machen wir den April zum „Geschwistermonat“. Um dies zu feiern, hat Brian Read, Schatzmeister der NR2F1 Foundation, sich bereit erklärt, seine ganz persönliche Geschichte zu erzählen, wie er der Bruder seiner wunderbaren Schwester Stephanie war, die am Ohtahara-Syndrom litt.]]></description>
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        <title><![CDATA[Update zur Entdeckung von BBSOAS und Bioinformatikanalysen]]></title>
        <link>https://www.nr2f1.org/de/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</link>
        <guid>https://www.nr2f1.org/de/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Dr. Magdalena Laugsch und ihr Team am Institut für Humangenetik der Universität Heidelberg haben einen wichtigen Schritt in der Entdeckung von Biomarkern für das Bosch-Boonstra-Schaaf-Optikusatrophie-Syndrom (BBSOAS) gemacht. Sie führten eine umfassende Analyse durch und identifizierten 13 vielversprechende Biomarker-Kandidaten.]]></description>
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        <title><![CDATA[Update von unserem BBSOAS-Vollzeitforscher Dr. Wassmer]]></title>
        <link>https://www.nr2f1.org/de/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</link>
        <guid>https://www.nr2f1.org/de/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Dr. Wassmer berichtet über die neuesten Entwicklungen ihrer Arbeit für BBSOAS im Labor von Dr. Schaaf an der Universität Heidelberg.]]></description>
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        <title><![CDATA[BBSOAS-Forschung – Projekt zur Umwidmung von Arzneimitteln gegen Fruchtfliegen]]></title>
        <link>https://www.nr2f1.org/de/news/blog/fruit-fly-drug-repurposing-project</link>
        <guid>https://www.nr2f1.org/de/news/blog/fruit-fly-drug-repurposing-project</guid>
        <pubDate>Wed, 12 Mar 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin, Präsidentin der NR2F1 Foundation, spricht mit Dr. Clement Chow, Professor für Humangenetik an der University of Utah. Er gibt faszinierende Einblicke in unsere Forschung zur Umwidmung von Fruchtfliegenmedikamenten.]]></description>
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        <title><![CDATA[NR2F1 Foundation Issues Bioinformatics Analysis Grant to Dr Laugsch]]></title>
        <link>https://www.nr2f1.org/de/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-foundation-grant-for-research</link>
        <guid>https://www.nr2f1.org/de/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[Lernen Sie Jennifer Coughlin kennen, die neue Vorstandsvorsitzende der NR2f1 Foundation]]></title>
        <link>https://www.nr2f1.org/de/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</link>
        <guid>https://www.nr2f1.org/de/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</guid>
        <pubDate>Thu, 16 May 2024 09:10:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin wurde zur neuen Präsidentin des Vorstands der NR2F1 Foundation ernannt. Carlie Monnier, die das Amt seit Beginn innehat, übernimmt die Rolle der Vizepräsidentin. Um Jennifer der BBSOAS-Familie und -Community vorzustellen, hier Jennifer in ihren eigenen Worten.]]></description>
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        <title><![CDATA[2024 Family and Scientific Conference was a Resounding Success]]></title>
        <link>https://www.nr2f1.org/de/news/blog/2024-family-scientific-conference-a-resounding-success</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/2023-the-year-in-review-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/research-strategy-goals</link>
        <guid>https://www.nr2f1.org/de/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[Entwicklung einer Forschungsstrategie und Roadmap für NR2F1 (2)]]></title>
        <link>https://www.nr2f1.org/de/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</link>
        <guid>https://www.nr2f1.org/de/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</guid>
        <pubDate>Wed, 20 Sep 2023 17:55:38 GMT</pubDate>
        <description><![CDATA[Die NR2F1 Foundation veranstaltet nächsten Monat am Samstag, den 7. Oktober 2023, den ganzen Tag über ein Forschungsentwicklungstreffen an der University of Denver in Colorado. Zu den Teilnehmern zählen Vorstandsmitglieder der NR2F1 Foundation, wissenschaftliche Berater und in der Gegend lebende BBSOAS-Familien.]]></description>
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        <title><![CDATA[10th Annual Million Dollar Bike Ride Was a Success!]]></title>
        <link>https://www.nr2f1.org/de/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/baking-a-big-impact</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/celebrating-launch-of-bbsoas-clinic</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/first-bbsoas-cvi-clinic</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-foundation-strategic-planning-meeting</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-foundation-looks-back-at-2022</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-research-fundraising-campaign</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/2022-report-on-rare-disease-genetic-testing</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/irish-para-athlete-diagnosed-with-bbsoas</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/edith-one-familys-story-with-bbsoas</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-foundation-receives-matching-grant</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/new-members-to-the-board-of-directors</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-scientific-conference-for-families-was-a-success</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/bbsoas-grandparent-support-group</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/exclusive-interview-with-zeb</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/2021-research-update</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/meet-simon-from-chile</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/emma</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/charly</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/ebony</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/meet-3-yr-old-aydn</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/henry</link>
        <guid>https://www.nr2f1.org/de/news/blog/henry</guid>
        <pubDate>Thu, 18 Nov 2021 13:35:21 GMT</pubDate>
        <description><![CDATA[]]></description>
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        <title><![CDATA[Sassy – Intuitive – DETERMINED…Meet 6 yr old Brooklyn from Florida!]]></title>
        <link>https://www.nr2f1.org/de/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</link>
        <guid>https://www.nr2f1.org/de/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/de/news/blog/first-international-bbsoas-awareness-day</link>
        <guid>https://www.nr2f1.org/de/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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