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      <title>NR2F1 Blog</title>
      <link>https://www.nr2f1.org</link>
      <description>Últimos artículos sobre NR2F1 y síndrome de atrofia óptica Bosch-Boonstra-Schaaf</description>
      <language>es</language>
      <lastBuildDate>Mon, 05 Oct 2026 15:13:15 GMT</lastBuildDate>
      <pubDate>Mon, 05 Oct 2026 15:13:15 GMT</pubDate>
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      <item>
        <title><![CDATA[Actualización del Estudio Observacional de Reutilización de Medicamentos]]></title>
        <link>https://www.nr2f1.org/es/news/blog/drug-repurposing-observational-study-aug2026-update</link>
        <guid>https://www.nr2f1.org/es/news/blog/drug-repurposing-observational-study-aug2026-update</guid>
        <pubDate>Wed, 02 Sep 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Actualización del Estudio Observacional de Reutilización de Medicamentos

¡Nos entusiasma compartir con ustedes una importante actualización sobre nuestro Estudio Observacional de Reutilización de Medicamentos!

Gracias por su paciencia. El inicio de este estudio está tomando un poco más de tiempo de lo previsto, pero estamos convencidos de que esta investigación representa un paso muy importante en nuestra misión de encontrar nuevas opciones de tratamiento para las personas que viven con BBSOAS.

Como compartimos durante nuestra conferencia de abril, gracias a una subvención de la NR2F1 Foundation, el Dr. Chow y su extraordinario equipo analizaron más de 1.600 medicamentos existentes que ya están aprobados para su uso en Estados Unidos y Europa. En este amplio proceso de evaluación, más de 30 compuestos mostraron resultados prometedores en nuestros modelos de mosca de la fruta de BBSOAS. Después de evaluar cuidadosamente factores como la seguridad, la disponibilidad y las necesidades específicas de nuestra comunidad, el equipo redujo la selección a DOS medicamentos candidatos.

Todavía quedan unas 6–8 semanas de trabajo antes de que podamos compartir más detalles, pero queremos que sepan que este proyecto es una de las principales prioridades de la NR2F1 Foundation. Estamos haciendo todo lo posible para poner en marcha el estudio lo antes posible.]]></description>
      </item>
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        <title><![CDATA[¡Bienvenida, Sarah Rogillio — nuestra nueva pasante de asesoramiento genético!]]></title>
        <link>https://www.nr2f1.org/es/news/blog/sarah-rogillio</link>
        <guid>https://www.nr2f1.org/es/news/blog/sarah-rogillio</guid>
        <pubDate>Sun, 16 Aug 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[¡Bienvenida, Sarah Rogillio — nuestra nueva pasante de asesoramiento genético!]]></description>
      </item>
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        <title><![CDATA[Presentamos a nuestra nueva integrante de la Junta Directiva en el Reino Unido]]></title>
        <link>https://www.nr2f1.org/es/news/blog/introducing-molly-carrow</link>
        <guid>https://www.nr2f1.org/es/news/blog/introducing-molly-carrow</guid>
        <pubDate>Thu, 04 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Presentamos a nuestra nueva integrante de la Junta Directiva en el Reino Unido, Molly Carrow]]></description>
      </item>
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        <title><![CDATA[La NR2F1 Foundation financia una nueva plaza de investigación posdoctoral de dos años en la Universidad de Turín]]></title>
        <link>https://www.nr2f1.org/es/news/blog/two-year-post-doc</link>
        <guid>https://www.nr2f1.org/es/news/blog/two-year-post-doc</guid>
        <pubDate>Tue, 02 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[La NR2F1 Foundation ha otorgado financiación para una plaza de investigador/a posdoctoral de dos años en la Universidad de Turín, Italia, bajo la dirección de la Dra. Silvia De Marchis]]></description>
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        <title><![CDATA[Actualización de nuestra investigadora BBSOAS a tiempo completo, Dr. Elsa Wassmer]]></title>
        <link>https://www.nr2f1.org/es/news/blog/2026-Feb-Research-Update-Elsa</link>
        <guid>https://www.nr2f1.org/es/news/blog/2026-Feb-Research-Update-Elsa</guid>
        <pubDate>Fri, 20 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Actualización de nuestra investigadora BBSOAS a tiempo completo, Dr. Elsa Wassmer]]></description>
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        <title><![CDATA[Participa en la investigación de BBSOAS – Fechas 2026]]></title>
        <link>https://www.nr2f1.org/es/news/blog/BBSOAS-research-2026-collection-dates</link>
        <guid>https://www.nr2f1.org/es/news/blog/BBSOAS-research-2026-collection-dates</guid>
        <pubDate>Wed, 18 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Durante los últimos 3 años, hemos colaborado con COMBINEDBrain para recopilar muestras biológicas de BBSOAS (por ejemplo, muestras de sangre) destinadas a proyectos de investigación.

Como fundación, nuestro objetivo es recopilar la mayor cantidad posible de muestras de BBSOAS de nuestra comunidad. Cuantas más muestras recolectemos, mayores serán nuestras oportunidades de aprender más sobre la BBSOAS.]]></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/es/news/blog/fruit-fly-drug-repurposing-update</link>
        <guid>https://www.nr2f1.org/es/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[El 7 de diciembre de 2025 se celebra el Día de Concienciación sobre el BBSOAS, pero ¿sabías que ese día también es el cumpleaños de Peggy, la paciente número 1?]]></title>
        <link>https://www.nr2f1.org/es/news/blog/peggy-patient-1-birthday</link>
        <guid>https://www.nr2f1.org/es/news/blog/peggy-patient-1-birthday</guid>
        <pubDate>Sun, 07 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[El 7 de diciembre de 2025 es el Día de Concientización sobre BBSOAS, pero ¿sabías que también es el cumpleaños de Peggy, paciente n.º 1?]]></description>
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        <title><![CDATA[Actualización del conteo de pacientes – 25 de noviembre de 2025]]></title>
        <link>https://www.nr2f1.org/es/news/blog/patient-count-update-Nov-2025</link>
        <guid>https://www.nr2f1.org/es/news/blog/patient-count-update-Nov-2025</guid>
        <pubDate>Tue, 25 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Por primera vez desde el lanzamiento de la Fundación (2018), ¡tenemos un conteo oficial de pacientes! Este es nuestro segundo censo del año. Conocer cuántas personas están diagnosticadas nos ayuda a compartir datos importantes con científicos, investigadores y familias como la tuya.]]></description>
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        <title><![CDATA[Actualización de Investigación: descubre lo que viene para los avances en BBSOAS]]></title>
        <link>https://www.nr2f1.org/es/news/blog/research-update-2025</link>
        <guid>https://www.nr2f1.org/es/news/blog/research-update-2025</guid>
        <pubDate>Tue, 11 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Escucha las últimas novedades sobre nuestro Proyecto de Reutilización de Medicamentos y obtén un adelanto de nuestras principales prioridades de investigación para 2026 — avances posibles gracias a nuestras familias y seguidores.]]></description>
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        <title><![CDATA[Actualizaciones de Liderazgo]]></title>
        <link>https://www.nr2f1.org/es/news/blog/leadership-updates</link>
        <guid>https://www.nr2f1.org/es/news/blog/leadership-updates</guid>
        <pubDate>Tue, 30 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Carlie fue presidenta hasta abril de 2024, luego pasó a ser vicepresidenta y desde entonces ha estado trabajando en un plan de sucesión para tener más disponibilidad. Finalmente ha llegado el momento de que Carlie entregue su cargo de vicepresidenta, y nos complace anunciar que Ashlee Manjon-Stierstorfer asumirá el puesto a partir del 1 de octubre.]]></description>
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        <title><![CDATA[Celebrando la contribución de Contentful a nuestro nuevo sitio web]]></title>
        <link>https://www.nr2f1.org/es/news/blog/Celebrating-Contentful-Contribution-to-New-Website</link>
        <guid>https://www.nr2f1.org/es/news/blog/Celebrating-Contentful-Contribution-to-New-Website</guid>
        <pubDate>Mon, 15 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Nos enorgullece anunciar el lanzamiento del nuevo sitio web de la NR2F1 Foundation — un proyecto diseñado y desarrollado por nuestros socios de Red Badger. Junto con su increíble trabajo, esta transformación fue posible gracias al generoso apoyo de Contentful.]]></description>
      </item>
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        <title><![CDATA[Cada diagnóstico cuenta]]></title>
        <link>https://www.nr2f1.org/es/news/blog/every-diagnosis-matters</link>
        <guid>https://www.nr2f1.org/es/news/blog/every-diagnosis-matters</guid>
        <pubDate>Fri, 15 Aug 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Por primera vez desde el lanzamiento de la Fundación (2018), ¡contamos con los pacientes! Durante los últimos meses, hemos trabajado incansablemente para obtener el recuento más preciso de casos de BBSOAS en todo el mundo.]]></description>
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        <title><![CDATA[“No te preocupes por no saberlo todo, lo sabrás”]]></title>
        <link>https://www.nr2f1.org/es/news/blog/dont-worry-that-you-dont-know-you-will</link>
        <guid>https://www.nr2f1.org/es/news/blog/dont-worry-that-you-dont-know-you-will</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Este mes presentamos a Andrew, de 9 años y originario de Escocia, Reino Unido, y su madre, Karen, comparte su historia de vida con su increíble hijo.]]></description>
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        <title><![CDATA[Presentamos el Consejo Asesor de Investigación NR2F1]]></title>
        <link>https://www.nr2f1.org/es/news/blog/introducing-the-nr2f1-research-advisory-council</link>
        <guid>https://www.nr2f1.org/es/news/blog/introducing-the-nr2f1-research-advisory-council</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Nos complace anunciar la formación de un nuevo Consejo Asesor de Investigación. El consejo proporcionará orientación experta y conocimiento estratégico para ayudar a dirigir las prioridades e iniciativas de investigación de la fundación.]]></description>
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        <title><![CDATA[¡Tri4Albert recauda $23.000 para la Fundación NR2F1!]]></title>
        <link>https://www.nr2f1.org/es/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/es/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Apoyar a la fundación NR2F1 es fundamental, ya que sin ella nos sentiríamos muy solos en nuestra lucha por encontrar respuestas y tratamientos. Podríamos haber recaudado fondos solo para Albert para pagar tratamientos y terapias privadas, pero consideramos que la mejor manera de tener un impacto positivo en nuestros hijos es uniéndonos y ayudándonos mutuamente. ¡No tenemos suficiente dinero para financiar la investigación ni los ensayos clínicos!]]></description>
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        <title><![CDATA[Participate in BBSOAS Research! 2025 BioRepository Dates and Locations]]></title>
        <link>https://www.nr2f1.org/es/news/blog/2025-BioRepository-Dates-and-Locations</link>
        <guid>https://www.nr2f1.org/es/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 mi hija de 56 años le acaban de diagnosticar"]]></title>
        <link>https://www.nr2f1.org/es/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</link>
        <guid>https://www.nr2f1.org/es/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, presidenta de la Fundación NR2F1, y Carlie, vicepresidenta y cofundadora, conversaron con Icle y Bobby, padres de Georgia, sobre su hija Susan, de 56 años, a quien recientemente le diagnosticaron BBSOAS. Los padres compartieron su increíble experiencia con Susan, desde su infancia hasta la actualidad.]]></description>
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        <title><![CDATA[Inspira el cambio: organiza tu propia recaudación de fondos para la Fundación NR2F1]]></title>
        <link>https://www.nr2f1.org/es/news/blog/host-fundraiser-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/es/news/blog/host-fundraiser-for-the-nr2f1-foundation</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Kaileigh, una madre de Carolina del Norte, comparte su inspiradora historia sobre cómo organizó una caminata comunitaria para recaudar fondos para BBSOAS. Desde la planificación del evento hasta la superación de los desafíos, la experiencia de Kaileigh demuestra que organizar una caminata para recaudar fondos puede ser gratificante y tener un gran impacto.]]></description>
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        <title><![CDATA[Conoce a la estudiante voluntaria Abigayle Nafus]]></title>
        <link>https://www.nr2f1.org/es/news/blog/meet-student-volunteer-abigayle-nafus</link>
        <guid>https://www.nr2f1.org/es/news/blog/meet-student-volunteer-abigayle-nafus</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Abigayle Nafus, del Programa de Posgrado en Asesoramiento Genético de la Universidad de Kean, se ha ofrecido como voluntaria con la Fundación NR2F1. Está ayudando a la presidenta de la Fundación NR2F1 con el recuento mundial de pacientes de BBSOAS.]]></description>
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        <title><![CDATA[Duelo, Resiliencia y Asombro de BBSOAS]]></title>
        <link>https://www.nr2f1.org/es/news/blog/bbsoas-grief-resilience-and-wonderment</link>
        <guid>https://www.nr2f1.org/es/news/blog/bbsoas-grief-resilience-and-wonderment</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Ashlee Manjon-Stierstorfer, madre y miembro de la junta directiva de la Fundación NR2F1, comparte sus sentimientos de dolor e incertidumbre cuando Emma (ahora de 7 años) fue diagnosticada por primera vez y cómo ese sentimiento nunca desaparece por completo, pero encuentras formas de vivir con él.]]></description>
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        <title><![CDATA[La perspectiva de un hermano sobre las enfermedades raras]]></title>
        <link>https://www.nr2f1.org/es/news/blog/a-siblings-perspective-on-rare-disease</link>
        <guid>https://www.nr2f1.org/es/news/blog/a-siblings-perspective-on-rare-disease</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[El 10 de abril es el Día Nacional del Hermano. Así que convertimos abril en el "Mes del Hermano". Para celebrarlo, Brian Read, tesorero de la Fundación NR2F1, tuvo la amabilidad de compartir su historia personal sobre ser hermano de su maravillosa hermana, Stephanie, quien padecía el síndrome de Ohtahara.]]></description>
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        <title><![CDATA[Actualización sobre descubrimientos en BBSOAS y análisis bioinformático]]></title>
        <link>https://www.nr2f1.org/es/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</link>
        <guid>https://www.nr2f1.org/es/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[La Dra. Magdalena Laugsch y su equipo del Instituto de Genética Humana de la Universidad de Heidelberg (Alemania) han dado un paso importante en el descubrimiento de biomarcadores para el síndrome de atrofia óptica de Bosch-Boonstra-Schaaf (BBSOAS). Realizaron un análisis exhaustivo e identificaron 13 biomarcadores candidatos prometedores.]]></description>
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        <title><![CDATA[Actualización de nuestra investigadora de tiempo completo de BBSOAS Dr. Wassmer]]></title>
        <link>https://www.nr2f1.org/es/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</link>
        <guid>https://www.nr2f1.org/es/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 Dra. Wassmer comparte los últimos avances del trabajo que está realizando para BBSOAS en el laboratorio del Dr. Schaaf en la Universidad de Heidelberg.]]></description>
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        <title><![CDATA[Investigación de BBSOAS - Proyecto de reutilización de fármacos contra la mosca de la fruta]]></title>
        <link>https://www.nr2f1.org/es/news/blog/fruit-fly-drug-repurposing-project</link>
        <guid>https://www.nr2f1.org/es/news/blog/fruit-fly-drug-repurposing-project</guid>
        <pubDate>Wed, 12 Mar 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin, presidenta de la Fundación NR2F1, conversa con el Dr. Clement Chow, profesor de Genética Humana de la Universidad de Utah. Chow compartió ideas fascinantes sobre nuestra investigación sobre la reutilización de fármacos para la mosca de la fruta.]]></description>
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        <title><![CDATA[NR2F1 Foundation Issues Bioinformatics Analysis Grant to Dr Laugsch]]></title>
        <link>https://www.nr2f1.org/es/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-foundation-grant-for-research</link>
        <guid>https://www.nr2f1.org/es/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[Conozca a Jennifer Coughlin, nueva presidenta de la junta directiva de la Fundación NR2f1]]></title>
        <link>https://www.nr2f1.org/es/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</link>
        <guid>https://www.nr2f1.org/es/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</guid>
        <pubDate>Thu, 16 May 2024 09:10:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin ha sido nombrada nueva presidenta de la junta directiva de la Fundación NR2F1. Carlie Monnier, que ocupa el cargo desde el principio, asumirá el cargo de vicepresidenta. Para presentarle a Jennifer a la familia y la comunidad de BBSOAS, aquí está Jennifer en sus propias palabras.]]></description>
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        <title><![CDATA[2024 Family and Scientific Conference was a Resounding Success]]></title>
        <link>https://www.nr2f1.org/es/news/blog/2024-family-scientific-conference-a-resounding-success</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/2023-the-year-in-review-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/research-strategy-goals</link>
        <guid>https://www.nr2f1.org/es/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[Desarrollo de una estrategia de investigación y una hoja de ruta para NR2F1 ]]></title>
        <link>https://www.nr2f1.org/es/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</link>
        <guid>https://www.nr2f1.org/es/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</guid>
        <pubDate>Wed, 20 Sep 2023 17:55:38 GMT</pubDate>
        <description><![CDATA[La Fundación NR2F1 organizará una reunión de desarrollo de investigación el próximo mes en la Universidad de Denver en Colorado, durante todo el día sábado 7 de octubre de 2023. Los participantes incluirán miembros de la Junta de la Fundación NR2F1, asesores científicos y familias locales de BBSOAS que viven en el área.]]></description>
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        <title><![CDATA[10th Annual Million Dollar Bike Ride Was a Success!]]></title>
        <link>https://www.nr2f1.org/es/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/baking-a-big-impact</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/celebrating-launch-of-bbsoas-clinic</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/first-bbsoas-cvi-clinic</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-foundation-strategic-planning-meeting</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-foundation-looks-back-at-2022</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-research-fundraising-campaign</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/2022-report-on-rare-disease-genetic-testing</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/irish-para-athlete-diagnosed-with-bbsoas</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/edith-one-familys-story-with-bbsoas</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-foundation-receives-matching-grant</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/new-members-to-the-board-of-directors</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-scientific-conference-for-families-was-a-success</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/bbsoas-grandparent-support-group</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/exclusive-interview-with-zeb</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/2021-research-update</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/meet-simon-from-chile</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/emma</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/charly</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/ebony</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/meet-3-yr-old-aydn</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/henry</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</link>
        <guid>https://www.nr2f1.org/es/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/es/news/blog/first-international-bbsoas-awareness-day</link>
        <guid>https://www.nr2f1.org/es/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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