<?xml version="1.0" encoding="UTF-8" ?>
  <rss version="2.0">
    <channel>
      <title>NR2F1 Blog</title>
      <link>https://www.nr2f1.org</link>
      <description>最新博客文章关于NR2F1和Bosch-Boonstra-Schaaf光学萎缩综合征</description>
      <language>zh-CN</language>
      <lastBuildDate>Mon, 05 Oct 2026 15:12:44 GMT</lastBuildDate>
      <pubDate>Mon, 05 Oct 2026 15:12:44 GMT</pubDate>
      <image>
        <url>https://www.nr2f1.org/zh-CN/icon.svg</url>
        <width>502.93</width>
        <height>463.04</height>
      </image>
      <item>
        <title><![CDATA[药物再利用观察性研究更新]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/drug-repurposing-observational-study-aug2026-update</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/drug-repurposing-observational-study-aug2026-update</guid>
        <pubDate>Wed, 02 Sep 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[药物再利用观察性研究最新进展

我们很高兴与大家分享药物再利用观察性研究的最新进展！

感谢大家一直以来的耐心等待。虽然研究启动的时间比我们最初预计的要晚一些，但这项研究的开展将是我们为 BBSOAS 患者寻找治疗方案道路上的重要一步。

正如我们在四月份的会议上所分享的，在 NR2F1 基金会的资助下，Chow 博士及其团队对超过 1,600 种已经获准在美国和欧洲使用的现有药物进行了筛选。在这一大规模筛选过程中，超过 30 种化合物在我们的 BBSOAS 果蝇模型中显示出了令人鼓舞的效果。经过对安全性、可及性以及患者群体具体需求等因素的综合评估，目前已经将候选药物进一步缩小至 两种。

虽然我们还需要大约 6–8 周的时间才能分享更多具体细节，但请大家放心，这项研究是 NR2F1 基金会目前最重要的工作之一。我们正在全力以赴，争取尽快启动这项研究。]]></description>
      </item>
<item>
        <title><![CDATA[欢迎 Sarah Rogillio——我们的新遗传咨询实习生！]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/sarah-rogillio</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/sarah-rogillio</guid>
        <pubDate>Sun, 16 Aug 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[欢迎 Sarah Rogillio——我们的新遗传咨询实习生！]]></description>
      </item>
<item>
        <title><![CDATA[欢迎我们的新任英国董事会成员]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/introducing-molly-carrow</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/introducing-molly-carrow</guid>
        <pubDate>Thu, 04 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[欢迎我们的新任英国董事会成员, Molly Carrow  ]]></description>
      </item>
<item>
        <title><![CDATA[NR2F1基金会资助都灵大学新的两年期博士后研究员职位]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/two-year-post-doc</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/two-year-post-doc</guid>
        <pubDate>Tue, 02 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[NR2F1基金会已批准资助意大利都灵大学一项为期两年的博士后研究员职位，该项目由Silvia De Marchis博士领导]]></description>
      </item>
<item>
        <title><![CDATA[来自 BBSOAS 全职研究员 Dr. Elsa Wassmer 的最新进展]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/2026-Feb-Research-Update-Elsa</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/2026-Feb-Research-Update-Elsa</guid>
        <pubDate>Fri, 20 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[来自 BBSOAS 全职研究员 Dr. Elsa Wassmer 的最新进展]]></description>
      </item>
<item>
        <title><![CDATA[参与 BBSOAS 研究 — 2026 年日期]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/BBSOAS-research-2026-collection-dates</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/BBSOAS-research-2026-collection-dates</guid>
        <pubDate>Wed, 18 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[在过去的 3 年中，我们与 COMBINEDBrain 合作，收集 BBSOAS 的生物样本（例如血液），用于研究项目。作为一个基金会，我们的目标是从社区中尽可能多地收集 BBSOAS 样本。
收集的样本越多，我们就越有机会深入了解 BBSOAS。]]></description>
      </item>
<item>
        <title><![CDATA[Want to know the latest on the Fruit Fly Drug Repurposing project?]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/fruit-fly-drug-repurposing-update</link>
        <guid>https://www.nr2f1.org/zh-CN/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[2025年12月7日是 BBSOAS 宣传日，但你知道这一天也是 Peggy——1号患者——的生日吗？]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/peggy-patient-1-birthday</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/peggy-patient-1-birthday</guid>
        <pubDate>Sun, 07 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[2025年12月7日是 BBSOAS 认知日，但你知道这天也是 Peggy（患者1号）的生日吗？]]></description>
      </item>
<item>
        <title><![CDATA[患者数量更新 – 2025年11月25日]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/patient-count-update-Nov-2025</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/patient-count-update-Nov-2025</guid>
        <pubDate>Tue, 25 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[自基金会于2018年成立以来，这是我们首次拥有患者数量统计！这是我们今年的第二次统计。了解确诊人数有助于我们与科学家、研究人员以及像您一样的家庭共享有意义的数据。]]></description>
      </item>
<item>
        <title><![CDATA[研究更新：了解 BBSOAS 发现的最新进展]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/research-update-2025</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/research-update-2025</guid>
        <pubDate>Tue, 11 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[聆听我们关于药物再利用项目的最新消息，并抢先了解 2026 年的重点研究方向——这一切的成果都离不开我们的家庭和支持者。]]></description>
      </item>
<item>
        <title><![CDATA[领导层更新]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/leadership-updates</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/leadership-updates</guid>
        <pubDate>Tue, 30 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[卡莉担任总裁直至2024年4月，之后退任副总裁，并一直在制定继任计划，以便腾出更多时间。卡莉终于可以卸任副总裁一职了，我们很高兴地宣布，阿什莉·曼琼-施蒂尔斯托弗 (Ashlee Manjon-Stierstorfer) 将于10月1日起接任副总裁一职。]]></description>
      </item>
<item>
        <title><![CDATA[庆祝 Contentful 对我们新网站的贡献]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/Celebrating-Contentful-Contribution-to-New-Website</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/Celebrating-Contentful-Contribution-to-New-Website</guid>
        <pubDate>Mon, 15 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[我们自豪地宣布 NR2F1 基金会全新网站的上线 —— 这是由我们的合作伙伴 Red Badger 设计和开发的项目。在他们出色工作的同时，这一转型也得益于 Contentful 的慷慨支持。]]></description>
      </item>
<item>
        <title><![CDATA[每一个诊断都很重要]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/every-diagnosis-matters</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/every-diagnosis-matters</guid>
        <pubDate>Fri, 15 Aug 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[自基金会成立（2018年）以来，我们首次实现了患者人数统计！过去几个月，我们一直不懈努力，力求在全球范围内获得最准确的BBSOAS病例统计。]]></description>
      </item>
<item>
        <title><![CDATA[“别担心你不知道所有事情，你会知道的”]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/dont-worry-that-you-dont-know-you-will</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/dont-worry-that-you-dont-know-you-will</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[本月，我们将为您介绍来自英国苏格兰的9岁男孩安德鲁，他就是BBSOAStrong。妈妈凯伦分享了她与这位神奇儿子的生活故事。]]></description>
      </item>
<item>
        <title><![CDATA[NR2F1 研究咨询委员会简介]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/introducing-the-nr2f1-research-advisory-council</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/introducing-the-nr2f1-research-advisory-council</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[我们很高兴地宣布成立新的研究咨询委员会。该委员会将提供专家指导和战略见解，以帮助指导基金会的研究重点和计划。]]></description>
      </item>
<item>
        <title><![CDATA[Tri4Albert 为 NR2F1 基金会筹集 23,000 美元！]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[支持NR2F1基金会至关重要，因为如果没有它，我们在寻求答案和治疗的道路上会感到无比孤独。没错，我们本可以为Albert筹集资金，让他支付私人治疗/疗法的费用，但我们认为，对孩子们产生积极影响的最大方式是团结起来，互相帮助。我们自己没有足够的钱来支付研究或药物试验的费用！]]></description>
      </item>
<item>
        <title><![CDATA[Participate in BBSOAS Research! 2025 BioRepository Dates and Locations]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/2025-BioRepository-Dates-and-Locations</link>
        <guid>https://www.nr2f1.org/zh-CN/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[“我56岁的女儿刚刚被诊断出患有癌症”]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[NR2F1基金会主席Jennifer和副总裁兼联合创始人Carlie与来自佐治亚州的父母Icle和Bobby畅谈了她56岁的女儿Susan，Susan最近被诊断出患有BBSOAS。两位父母分享了他们与Susan从婴儿时期到现在的奇妙成长历程。]]></description>
      </item>
<item>
        <title><![CDATA[激发变革：为 NR2F1 基金会举办自己的筹款活动]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/host-fundraiser-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/host-fundraiser-for-the-nr2f1-foundation</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[来自北卡罗来纳州的母亲凯莉分享了她组织社区徒步为BBSOAS筹款的励志故事。从活动策划到克服重重挑战，凯莉的经历表明，组织一场筹款徒步活动可以带来丰厚的回报，并产生巨大的影响。]]></description>
      </item>
<item>
        <title><![CDATA[认识学生志愿者 Abigayle Nafus]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/meet-student-volunteer-abigayle-nafus</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/meet-student-volunteer-abigayle-nafus</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[来自基恩大学遗传咨询研究生项目的阿比盖尔·纳弗斯 (Abigayle Nafus) 已加入 NR2F1 基金会，担任志愿者。她正在协助 NR2F1 基金会主席统计全球 BBSOAS 患者数量。]]></description>
      </item>
<item>
        <title><![CDATA[BBSOAS 悲伤、韧性和惊奇]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/bbsoas-grief-resilience-and-wonderment</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/bbsoas-grief-resilience-and-wonderment</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[母亲兼 NR2F1 基金会董事会成员 Ashlee Manjon-Stierstorfer 分享了当 Emma（现年 7 岁）第一次被诊断出患有癌症时她的悲伤和不确定的感受，以及这种感觉如何永远不会消失，但你会找到与之共存的方法。]]></description>
      </item>
<item>
        <title><![CDATA[兄弟姐妹对罕见病的看法]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/a-siblings-perspective-on-rare-disease</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/a-siblings-perspective-on-rare-disease</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[4月10日是全国兄弟姐妹日。因此，我们将四月定为“兄弟姐妹月”。为了纪念这一天，NR2F1基金会财务主管Brian Read慷慨地答应分享他作为姐姐Stephanie（患有大田原综合征）的哥哥的亲身经历。]]></description>
      </item>
<item>
        <title><![CDATA[BBSOAS 和生物信息学分析发现更新]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[德国海德堡大学人类遗传学研究所的 Magdalena Laugsch 博士和她的团队在 Bosch-Boonstra-Schaaf 视神经萎缩综合征 (BBSOAS) 的生物标志物发现方面迈出了重要一步。他们进行了全面的分析并确定了 13 种有希望的候选生物标志物。]]></description>
      </item>
<item>
        <title><![CDATA[来自我们BBSOAS全职研究员Wassmer博士的最新消息]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Wassmer 博士分享了她在海德堡大学 Schaaf 博士实验室为 BBSOAS 所做工作的最新进展。]]></description>
      </item>
<item>
        <title><![CDATA[BBSOAS 研究 - 果蝇药物再利用项目]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/fruit-fly-drug-repurposing-project</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/fruit-fly-drug-repurposing-project</guid>
        <pubDate>Wed, 12 Mar 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[NR2F1基金会主席Jennifer Coughlin与犹他大学人类遗传学教授Clement Chow博士进行了交谈。他分享了我们果蝇药物再利用研究的一些精彩见解。]]></description>
      </item>
<item>
        <title><![CDATA[NR2F1 Foundation Issues Bioinformatics Analysis Grant to Dr Laugsch]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-foundation-grant-for-research</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/2024-family-scientific-conference-a-resounding-success</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/2023-the-year-in-review-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/research-strategy-goals</link>
        <guid>https://www.nr2f1.org/zh-CN/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[制定 NR2F1 研究战略（2023-2025 年）]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</link>
        <guid>https://www.nr2f1.org/zh-CN/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</guid>
        <pubDate>Wed, 20 Sep 2023 17:55:38 GMT</pubDate>
        <description><![CDATA[NR2F1 基金会将于下个月在科罗拉多州丹佛大学举办一场研究发展会议，时间为 2023 年 10 月 7 日星期六全天。与会者包括 NR2F1 基金会董事会成员、科学顾问以及居住在该地区的当地 BBSOAS 家庭。]]></description>
      </item>
<item>
        <title><![CDATA[10th Annual Million Dollar Bike Ride Was a Success!]]></title>
        <link>https://www.nr2f1.org/zh-CN/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/baking-a-big-impact</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/celebrating-launch-of-bbsoas-clinic</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/first-bbsoas-cvi-clinic</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-foundation-strategic-planning-meeting</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-foundation-looks-back-at-2022</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-research-fundraising-campaign</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/2022-report-on-rare-disease-genetic-testing</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/irish-para-athlete-diagnosed-with-bbsoas</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/edith-one-familys-story-with-bbsoas</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-foundation-receives-matching-grant</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/new-members-to-the-board-of-directors</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-scientific-conference-for-families-was-a-success</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/bbsoas-grandparent-support-group</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/exclusive-interview-with-zeb</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/2021-research-update</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/meet-simon-from-chile</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/emma</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/charly</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/ebony</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/meet-3-yr-old-aydn</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/henry</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</link>
        <guid>https://www.nr2f1.org/zh-CN/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/zh-CN/news/blog/first-international-bbsoas-awareness-day</link>
        <guid>https://www.nr2f1.org/zh-CN/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>