<?xml version="1.0" encoding="UTF-8" ?>
  <rss version="2.0">
    <channel>
      <title>NR2F1 Blog</title>
      <link>https://www.nr2f1.org</link>
      <description>Últimos artigos sobre NR2F1 e síndrome de atrofia óptica Bosch-Boonstra-Schaaf</description>
      <language>pt-BR</language>
      <lastBuildDate>Mon, 05 Oct 2026 15:17:36 GMT</lastBuildDate>
      <pubDate>Mon, 05 Oct 2026 15:17:36 GMT</pubDate>
      <image>
        <url>https://www.nr2f1.org/pt-BR/icon.svg</url>
        <width>502.93</width>
        <height>463.04</height>
      </image>
      <item>
        <title><![CDATA[Atualização do Estudo Observacional de Reposicionamento de Medicamentos]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/drug-repurposing-observational-study-aug2026-update</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/drug-repurposing-observational-study-aug2026-update</guid>
        <pubDate>Wed, 02 Sep 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Atualização sobre o Estudo Observacional de Reposicionamento de Medicamentos

Estamos muito felizes em compartilhar uma importante atualização sobre nosso Estudo Observacional de Reposicionamento de Medicamentos!

Agradecemos a todos pela paciência. O início do estudo está levando um pouco mais de tempo do que esperávamos, mas acreditamos que esta pesquisa representa um passo importante em nossa missão de encontrar novas opções de tratamento para pessoas que vivem com BBSOAS.

Como compartilhamos em nossa conferência em abril, com o apoio de uma bolsa da NR2F1 Foundation, o Dr. Chow e sua incrível equipe analisaram mais de 1.600 medicamentos já existentes e aprovados para uso nos Estados Unidos e na Europa. Nesse amplo processo de triagem, mais de 30 compostos apresentaram resultados promissores em nossos modelos de moscas-das-frutas de BBSOAS. Após uma avaliação cuidadosa de fatores como segurança, disponibilidade e as necessidades específicas da nossa comunidade, a equipe chegou a DOIS medicamentos candidatos.

Ainda temos cerca de 6 a 8 semanas de trabalho pela frente antes de podermos compartilhar mais detalhes. Mas queremos que vocês saibam que este projeto é uma das principais prioridades da NR2F1 Foundation e estamos fazendo todo o possível para iniciar o estudo o quanto antes.]]></description>
      </item>
<item>
        <title><![CDATA[Bem-vinda, Sarah Rogillio — nossa nova estagiária de aconselhamento genético!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/sarah-rogillio</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/sarah-rogillio</guid>
        <pubDate>Sun, 16 Aug 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Bem-vinda, Sarah Rogillio — nossa nova estagiária de aconselhamento genético!]]></description>
      </item>
<item>
        <title><![CDATA[Apresentando nossa nova integrante do Conselho Diretor no Reino Unido]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/introducing-molly-carrow</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/introducing-molly-carrow</guid>
        <pubDate>Thu, 04 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Apresentando nossa nova integrante do Conselho Diretor no Reino Unido, Molly Carrow]]></description>
      </item>
<item>
        <title><![CDATA[A NR2F1 Foundation financia nova posição de pós-doutorado de dois anos na Universidade de Turim]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/two-year-post-doc</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/two-year-post-doc</guid>
        <pubDate>Tue, 02 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[A NR2F1 Foundation concedeu financiamento para uma posição de pesquisador(a) de pós-doutorado com duração de dois anos na Universidade de Turim, na Itália, sob a liderança da Dra. Silvia De Marchis]]></description>
      </item>
<item>
        <title><![CDATA[Atualização da nossa pesquisadora BBSOAS em tempo integral, Dr. Elsa Wassmer]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2026-Feb-Research-Update-Elsa</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/2026-Feb-Research-Update-Elsa</guid>
        <pubDate>Fri, 20 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Atualização da nossa pesquisadora BBSOAS em tempo integral, Dr. Elsa Wassmer]]></description>
      </item>
<item>
        <title><![CDATA[Participe da pesquisa sobre BBSOAS – Datas 2026]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/BBSOAS-research-2026-collection-dates</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/BBSOAS-research-2026-collection-dates</guid>
        <pubDate>Wed, 18 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Nos últimos 3 anos, fizemos parceria com a COMBINEDBrain para coletar amostras biológicas de BBSOAS (por exemplo, sangue) para uso em projetos de pesquisa.

Como fundação, nosso objetivo é coletar o maior número possível de amostras de BBSOAS da nossa comunidade. Quanto mais amostras coletarmos, maiores serão as chances de aprender mais sobre a BBSOAS.]]></description>
      </item>
<item>
        <title><![CDATA[Want to know the latest on the Fruit Fly Drug Repurposing project?]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/fruit-fly-drug-repurposing-update</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/fruit-fly-drug-repurposing-update</guid>
        <pubDate>Fri, 19 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Listen as Melissa Thelen, NR2F1 Foundation Research Chair, and Jennifer Coughlin, NR2F1 Foundation President, discuss exciting updates about the Fruit Fly Drug Repurposing Project and how you can help the future of BBSOAS Research!]]></description>
      </item>
<item>
        <title><![CDATA[O dia 7 de dezembro de 2025 é o Dia de Conscientização da BBSOAS, mas você sabia que esse dia também é o aniversário de Peggy, a Paciente nº 1?]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/peggy-patient-1-birthday</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/peggy-patient-1-birthday</guid>
        <pubDate>Sun, 07 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[7 de dezembro de 2025 é o Dia de Conscientização sobre BBSOAS, mas você sabia que também é o aniversário da Peggy, paciente nº 1?]]></description>
      </item>
<item>
        <title><![CDATA[Atualização do Número de Pacientes – 25 de novembro de 2025]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/patient-count-update-Nov-2025</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/patient-count-update-Nov-2025</guid>
        <pubDate>Tue, 25 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Pela primeira vez desde o lançamento da Fundação (2018), temos uma contagem oficial de pacientes! Este é o nosso segundo censo do ano. Saber quantas pessoas foram diagnosticadas nos ajuda a compartilhar dados importantes com nossa comunidade de cientistas, pesquisadores e famílias como a sua.]]></description>
      </item>
<item>
        <title><![CDATA[Atualização de Pesquisa: veja o que vem a seguir nas descobertas sobre BBSOAS]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/research-update-2025</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/research-update-2025</guid>
        <pubDate>Tue, 11 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Ouça as novidades sobre nosso projeto de reaproveitamento de medicamentos e conheça as principais prioridades de pesquisa para 2026 — avanços possíveis graças às nossas famílias e apoiadores.]]></description>
      </item>
<item>
        <title><![CDATA[Atualizações de Liderança]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/leadership-updates</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/leadership-updates</guid>
        <pubDate>Tue, 30 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Carlie foi presidente até abril de 2024, depois passou a vice-presidente e desde então tem trabalhado em um plano de sucessão para poder ter mais tempo livre. Agora chegou o momento de Carlie passar o cargo de vice-presidente, e temos o prazer de anunciar que Ashlee Manjon-Stierstorfer assumirá a função a partir de 1º de outubro.]]></description>
      </item>
<item>
        <title><![CDATA[Celebrando a contribuição da Contentful para o nosso novo site]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/Celebrating-Contentful-Contribution-to-New-Website</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/Celebrating-Contentful-Contribution-to-New-Website</guid>
        <pubDate>Mon, 15 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Temos orgulho em anunciar o lançamento do novo site da NR2F1 Foundation — um projeto criado e desenvolvido por nossos parceiros da Red Badger. Além do incrível trabalho deles, essa transformação só foi possível graças ao generoso apoio da Contentful.]]></description>
      </item>
<item>
        <title><![CDATA[Todo diagnóstico conta]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/every-diagnosis-matters</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/every-diagnosis-matters</guid>
        <pubDate>Fri, 15 Aug 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Pela primeira vez desde o lançamento da Fundação (2018), temos uma contagem de pacientes! Nos últimos meses, temos trabalhado incansavelmente para obter a contagem mais precisa de casos de BBSOAS em todo o mundo.]]></description>
      </item>
<item>
        <title><![CDATA[“Não se preocupe por não saber tudo sobre isso, você saberá”]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/dont-worry-that-you-dont-know-you-will</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/dont-worry-that-you-dont-know-you-will</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Este mês, estamos apresentando BBSOAStrong, Andrew, de 9 anos, da Escócia, Reino Unido. A mãe, Karen, compartilha sua história de vida com seu filho incrível.]]></description>
      </item>
<item>
        <title><![CDATA[Apresentando o Conselho Consultivo de Pesquisa NR2F1]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/introducing-the-nr2f1-research-advisory-council</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/introducing-the-nr2f1-research-advisory-council</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Temos o prazer de anunciar a formação de um novo Conselho Consultivo de Pesquisa. O conselho fornecerá orientação especializada e visão estratégica para ajudar a direcionar as prioridades e iniciativas de pesquisa da fundação.]]></description>
      </item>
<item>
        <title><![CDATA[Tri4Albert arrecada US$ 23 mil para a Fundação NR2F1!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Apoiar a fundação NR2F1 é muito importante porque, sem ela, nos sentiríamos muito sozinhos em nossa luta por respostas e tratamentos. Sim, poderíamos ter arrecadado dinheiro apenas para o Albert pagar tratamentos/terapias particulares, mas sentimos que a melhor maneira de causar um impacto positivo em nossos filhos é nos unindo e ajudando uns aos outros. Não temos dinheiro suficiente para pagar pesquisas ou testes de medicamentos nós mesmos!]]></description>
      </item>
<item>
        <title><![CDATA[Participate in BBSOAS Research! 2025 BioRepository Dates and Locations]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2025-BioRepository-Dates-and-Locations</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA["Minha filha de 56 anos acaba de ser diagnosticada"]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Jennifer, presidente da Fundação NR2F1, e Carlie, vice-presidente e cofundadora, conversaram com Icle e Bobby, pais da Geórgia, sobre sua filha Susan, de 56 anos, que foi recentemente diagnosticada com BBSOAS. Os pais compartilharam sua incrível jornada com Susan, desde a infância até agora.]]></description>
      </item>
<item>
        <title><![CDATA[Inspire a mudança: organize sua própria arrecadação de fundos para a Fundação NR2F1]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/host-fundraiser-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/host-fundraiser-for-the-nr2f1-foundation</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Kaileigh, uma mãe da Carolina do Norte, compartilha sua história inspiradora sobre como organizou uma caminhada comunitária para arrecadar fundos para a BBSOAS. Do planejamento do evento à superação dos desafios, a experiência de Kaileigh mostra que organizar uma caminhada para arrecadar fundos pode ser gratificante e ter um grande impacto.]]></description>
      </item>
<item>
        <title><![CDATA[Conheça a estudante voluntária Abigayle Nafus]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/meet-student-volunteer-abigayle-nafus</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/meet-student-volunteer-abigayle-nafus</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Abigayle Nafus, do Programa de Pós-Graduação em Aconselhamento Genético da Universidade Kean, se voluntariou para trabalhar na Fundação NR2F1. Ela está auxiliando o presidente da Fundação NR2F1 na contagem mundial de pacientes com BBSOAS.]]></description>
      </item>
<item>
        <title><![CDATA[Luto, Resiliência e Maravilhamento da BBSOAS]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/bbsoas-grief-resilience-and-wonderment</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/bbsoas-grief-resilience-and-wonderment</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[A mãe e membro do conselho da Fundação NR2F1, Ashlee Manjon-Stierstorfer, compartilha sobre seus sentimentos de tristeza e incerteza quando Emma (agora com 7 anos) foi diagnosticada pela primeira vez e como esse sentimento nunca vai embora, mas você encontra maneiras de conviver com ele.]]></description>
      </item>
<item>
        <title><![CDATA[A perspectiva de um irmão sobre doenças raras]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/a-siblings-perspective-on-rare-disease</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/a-siblings-perspective-on-rare-disease</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[10 de abril é o Dia Nacional dos Irmãos. Por isso, estamos transformando abril no "Mês dos Irmãos". Para comemorar, Brian Read, Tesoureiro da Fundação NR2F1, gentilmente concordou em compartilhar sua história pessoal de irmão para sua maravilhosa irmã, Stephanie, que tinha Síndrome de Ohtahara.]]></description>
      </item>
<item>
        <title><![CDATA[Atualização de Descoberta de Análise de Bioinformática e BBSOAS]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[A Dra. Magdalena Laugsch e sua equipe no Instituto de Genética Humana da Universidade de Heidelberg, Alemanha, deram um passo importante na descoberta de biomarcadores para a síndrome de atrofia óptica de Bosch-Boonstra-Schaaf (BBSOAS). Eles conduziram uma análise abrangente e identificaram 13 biomarcadores candidatos promissores.]]></description>
      </item>
<item>
        <title><![CDATA[Atualização do nosso pesquisador em tempo integral do BBSOAS, Dr. Wassmer]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[A Dra. Wassmer compartilha os últimos desenvolvimentos do trabalho que ela está fazendo para o BBSOAS no laboratório do Dr. Schaaf na Universidade de Heidelberg.]]></description>
      </item>
<item>
        <title><![CDATA[Pesquisa BBSOAS - Projeto de Reaproveitamento de Medicamentos para Moscas-das-Frutas]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/fruit-fly-drug-repurposing-project</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/fruit-fly-drug-repurposing-project</guid>
        <pubDate>Wed, 12 Mar 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[A presidente da Fundação NR2F1, Jennifer Coughlin, conversa com o Dr. Clement Chow, professor de Genética Humana na Universidade de Utah. Ele compartilhou alguns insights fascinantes sobre nossa pesquisa de reaproveitamento de medicamentos para moscas-das-frutas.]]></description>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Issues Bioinformatics Analysis Grant to Dr Laugsch]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 President Heads to D.C. for 2024 NORD Conference]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Awards Conference Grant to Dr. Magdalena Laugsch]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-grant-for-research</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Meet Jennifer Coughlin, New NR2f1 Foundation Board President]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</guid>
        <pubDate>Thu, 16 May 2024 09:10:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin has been appointed the new President of the Board of Directors of the NR2F1 Foundation. Carlie Monnier, who has held the position since the beginning, is taking over the role of vice-president. To introduce Jennifer to the BBSOAS family and community, here is Jennifer in her own words.]]></description>
      </item>
<item>
        <title><![CDATA[2024 Family and Scientific Conference was a Resounding Success]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2024-family-scientific-conference-a-resounding-success</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[2023 – The Year in Review for NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2023-the-year-in-review-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Research Strategy Goals]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/research-strategy-goals</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Desenvolvimento de uma estratégia de pesquisa para NR2F1, 2023-2025]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</guid>
        <pubDate>Wed, 20 Sep 2023 17:55:38 GMT</pubDate>
        <description><![CDATA[A Fundação NR2F1 realizará uma reunião de desenvolvimento de pesquisa no próximo mês na Universidade de Denver, no Colorado, durante todo o sábado, 7 de outubro de 2023. Os participantes incluirão membros do Conselho da Fundação NR2F1, consultores científicos e famílias locais da BBSOAS que vivem na área.]]></description>
      </item>
<item>
        <title><![CDATA[10th Annual Million Dollar Bike Ride Was a Success!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Baking a Big Impact]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/baking-a-big-impact</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Celebrating the Launch of the BBSOAS Clinic]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/celebrating-launch-of-bbsoas-clinic</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[2023 Million Dollar Bike Ride Fundraising for NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Launch of the First BBSOAS CVI Clinic]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/first-bbsoas-cvi-clinic</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Strategic Planning Meeting]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-strategic-planning-meeting</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Looks Back at 2022]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-looks-back-at-2022</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Research Fundraising Campaign]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-research-fundraising-campaign</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Chicago Marathon Fundraising Results]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[2022 Report on Rare Disease Genetic Testing]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2022-report-on-rare-disease-genetic-testing</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Irish Para-Athlete Diagnosed with BBSOAS]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/irish-para-athlete-diagnosed-with-bbsoas</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Chicago Marathon Fundraiser for NR2F1 Foundation Research]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Edith: One Family’s Story with BBSOAS]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/edith-one-familys-story-with-bbsoas</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Receives Matching Grant]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-receives-matching-grant</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Welcomes Five New Members to the Board of Directors]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/new-members-to-the-board-of-directors</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Scientific Conference for Families Was a Success!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-scientific-conference-for-families-was-a-success</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation is a New Member of the Rare Epilepsy Network]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Holiday Guides for BBSOAS Families and Their Supporters]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</guid>
        <pubDate>Thu, 18 Nov 2021 16:29:26 GMT</pubDate>
        <description><![CDATA[]]></description>
      </item>
<item>
        <title><![CDATA[BBSOAS Grandparent Support Group]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/bbsoas-grandparent-support-group</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/bbsoas-grandparent-support-group</guid>
        <pubDate>Thu, 18 Nov 2021 16:24:02 GMT</pubDate>
        <description><![CDATA[]]></description>
      </item>
<item>
        <title><![CDATA[Meet Zeb! An exclusive interview]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/exclusive-interview-with-zeb</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[2021 BBSOAS Research Update]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/2021-research-update</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Meet Simon from Chile!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/meet-simon-from-chile</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Meet 4 yr old Emma!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/emma</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Meet Charly from Lyon, France!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/charly</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Meet 4 yr old Ebony from Australia!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/ebony</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[Meet 3 yr old Aydn!-  NR2F1 Foundation]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/meet-3-yr-old-aydn</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[A Day in the Life of Henry (Click to read each slide)]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/henry</link>
        <guid>https://www.nr2f1.org/pt-BR/news/blog/henry</guid>
        <pubDate>Thu, 18 Nov 2021 13:35:21 GMT</pubDate>
        <description><![CDATA[]]></description>
      </item>
<item>
        <title><![CDATA[Sassy – Intuitive – DETERMINED…Meet 6 yr old Brooklyn from Florida!]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
<item>
        <title><![CDATA[First International BBSOAS Awareness Day]]></title>
        <link>https://www.nr2f1.org/pt-BR/news/blog/first-international-bbsoas-awareness-day</link>
        <guid>https://www.nr2f1.org/pt-BR/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>
      </item>
    </channel>
  </rss>