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      <title>NR2F1 Blog</title>
      <link>https://www.nr2f1.org</link>
      <description>Latest blog posts about NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome</description>
      <language>en</language>
      <lastBuildDate>Mon, 05 Oct 2026 14:39:44 GMT</lastBuildDate>
      <pubDate>Mon, 05 Oct 2026 14:39:44 GMT</pubDate>
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      <item>
        <title><![CDATA[ Drug Repurposing Observational Study Update]]></title>
        <link>https://www.nr2f1.org/en/news/blog/drug-repurposing-observational-study-aug2026-update</link>
        <guid>https://www.nr2f1.org/en/news/blog/drug-repurposing-observational-study-aug2026-update</guid>
        <pubDate>Wed, 02 Sep 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation’s Drug Repurposing Observational Study is moving closer to launch. Dr. Chow and his team screened more than 1,600 existing medications already approved in the U.S. and Europe. More than 30 compounds showed promising results in BBSOAS fruit fly models, and after evaluating safety, accessibility, and community needs, the team has narrowed the list to two potential drugs.

The Foundation expects the study to launch in approximately 6–8 weeks and is making it a top priority.

To prepare for participation, families should make sure they are enrolled in the NR2F1 Patient Registry (Matrix), have completed all required surveys, and have uploaded their child’s genetic report. Families who are already registered should simply log in and complete their annual surveys.

The Foundation will continue to provide updates as the study reaches important milestones and thanks the BBSOAS community for its ongoing support and partnership.]]></description>
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        <title><![CDATA[Welcome, Sarah Rogillio—Our new genetic counseling intern!]]></title>
        <link>https://www.nr2f1.org/en/news/blog/sarah-rogillio</link>
        <guid>https://www.nr2f1.org/en/news/blog/sarah-rogillio</guid>
        <pubDate>Sun, 16 Aug 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Welcome, Sarah Rogillio—Our new genetic counseling intern!]]></description>
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        <title><![CDATA[Introducing our New UK Board Member]]></title>
        <link>https://www.nr2f1.org/en/news/blog/introducing-molly-carrow</link>
        <guid>https://www.nr2f1.org/en/news/blog/introducing-molly-carrow</guid>
        <pubDate>Thu, 04 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Introducing our New UK Board Member, Molly Carrow]]></description>
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        <title><![CDATA[NR2F1 Foundation Funds New Two-Year Postdoctoral Researcher at the University of Turin]]></title>
        <link>https://www.nr2f1.org/en/news/blog/two-year-post-doc</link>
        <guid>https://www.nr2f1.org/en/news/blog/two-year-post-doc</guid>
        <pubDate>Tue, 02 Jun 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation has awarded funding for a two-year postdoctoral researcher position at the University of Turin, Italy, under the leadership of Dr. Silvia De Marchis]]></description>
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        <title><![CDATA[Update From Our BBSOAS Full-Time Researcher Dr. Wassmer]]></title>
        <link>https://www.nr2f1.org/en/news/blog/2026-Feb-Research-Update-Elsa</link>
        <guid>https://www.nr2f1.org/en/news/blog/2026-Feb-Research-Update-Elsa</guid>
        <pubDate>Fri, 20 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Update From Our BBSOAS Full-Time Researcher Dr. Wassmer]]></description>
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        <title><![CDATA[Participate in BBSOAS research—2026 dates]]></title>
        <link>https://www.nr2f1.org/en/news/blog/BBSOAS-research-2026-collection-dates</link>
        <guid>https://www.nr2f1.org/en/news/blog/BBSOAS-research-2026-collection-dates</guid>
        <pubDate>Wed, 18 Feb 2026 00:00:00 GMT</pubDate>
        <description><![CDATA[Over the past 3 years we have partnered with COMBINEDBrain to collect BBSOAS bio samples (e.g. blood), to be used for research projects. Our goal as a foundation is to collect as many BBSOAS samples from our community as possible. The more we collect, the better our chances to learn more about 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/en/news/blog/fruit-fly-drug-repurposing-update</link>
        <guid>https://www.nr2f1.org/en/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[December 7 2025 is BBSOAS Awareness Day, but do you also knows it’s Peggy's *Patient 1* birthday?]]></title>
        <link>https://www.nr2f1.org/en/news/blog/peggy-patient-1-birthday</link>
        <guid>https://www.nr2f1.org/en/news/blog/peggy-patient-1-birthday</guid>
        <pubDate>Sun, 07 Dec 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[December 7 2025 is BBSOAS Awareness Day, but do you also knows it’s Peggy *Patient 1* birthday?]]></description>
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        <title><![CDATA[Patient Count Update—Nov 25, 2025]]></title>
        <link>https://www.nr2f1.org/en/news/blog/patient-count-update-Nov-2025</link>
        <guid>https://www.nr2f1.org/en/news/blog/patient-count-update-Nov-2025</guid>
        <pubDate>Tue, 25 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[For the first time since the Foundation launched (2018) we now have a patient count! Here is our second census this year. Knowing how many individuals are diagnosed helps us share meaningful data with our community of scientists, researchers, and families like yours.]]></description>
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        <title><![CDATA[Research Update: See What’s Next for BBSOAS Discovery]]></title>
        <link>https://www.nr2f1.org/en/news/blog/research-update-2025</link>
        <guid>https://www.nr2f1.org/en/news/blog/research-update-2025</guid>
        <pubDate>Tue, 11 Nov 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Hear the latest on our Drug Repurposing Project and get a preview of our top research priorities for 2026 — progress made possible by our families and supporters.]]></description>
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        <title><![CDATA[ Leadership Updates]]></title>
        <link>https://www.nr2f1.org/en/news/blog/leadership-updates</link>
        <guid>https://www.nr2f1.org/en/news/blog/leadership-updates</guid>
        <pubDate>Tue, 30 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Carlie was President until April 2024, then stepped back to Vice President and since then has been working on a succession plan to free herself up more. The time has finally come for Carlie to pass her role of Vice President on, and we are delighted to announce that Ashlee Manjon-Stierstorfer will assume the role of VP effective October 1.]]></description>
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        <title><![CDATA[Celebrating Contentful’s Contribution to Our New Website]]></title>
        <link>https://www.nr2f1.org/en/news/blog/Celebrating-Contentful-Contribution-to-New-Website</link>
        <guid>https://www.nr2f1.org/en/news/blog/Celebrating-Contentful-Contribution-to-New-Website</guid>
        <pubDate>Mon, 15 Sep 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[We are proud to share the launch of the NR2F1 Foundation’s brand-new website — a project designed and built by our partners at Red Badger. Alongside their incredible work, this transformation was made possible by the generous support of Contentful.]]></description>
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        <title><![CDATA[Every Diagnosis Counts]]></title>
        <link>https://www.nr2f1.org/en/news/blog/every-diagnosis-matters</link>
        <guid>https://www.nr2f1.org/en/news/blog/every-diagnosis-matters</guid>
        <pubDate>Fri, 15 Aug 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[For the first time since the Foundation launched (2018) we have a patient count! Over the past few months, we’ve been working tirelessly to get the most accurate count of BBSOAS cases worldwide.]]></description>
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        <title><![CDATA[“Don't worry that you don't know all about it, you will”]]></title>
        <link>https://www.nr2f1.org/en/news/blog/dont-worry-that-you-dont-know-you-will</link>
        <guid>https://www.nr2f1.org/en/news/blog/dont-worry-that-you-dont-know-you-will</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[This month we are profiling BBSOAStrong, 9-year-old Andrew, from Scotland, UK.  Mum, Karen, shares her story of living life with her incredible son. ]]></description>
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        <title><![CDATA[Introducing the NR2F1 Research Advisory Council ]]></title>
        <link>https://www.nr2f1.org/en/news/blog/introducing-the-nr2f1-research-advisory-council</link>
        <guid>https://www.nr2f1.org/en/news/blog/introducing-the-nr2f1-research-advisory-council</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[We are delighted to announce the formation of a new Research Advisory Council.  The council will provide expert guidance and strategic insight to help steer the foundation’s research priorities and initiatives.]]></description>
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        <title><![CDATA[Tri4Albert Raises $23k for the NR2F1 Foundation!]]></title>
        <link>https://www.nr2f1.org/en/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/en/news/blog/tri4albert-raises-23k-for-the-nr2f1-foundation</guid>
        <pubDate>Thu, 31 Jul 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Supporting the NR2F1 foundation is so important because without it we would feel so alone in our fight for answers and treatments. Yes, we could have raised money for just Albert to pay for private treatments/therapy, but we felt the biggest way we can have a positive impact on our children is by coming together and helping each other out. We don’t have enough money to pay for research or drug trials ourselves!]]></description>
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        <title><![CDATA[Participate in BBSOAS Research! 2025 BioRepository Dates and Locations]]></title>
        <link>https://www.nr2f1.org/en/news/blog/2025-BioRepository-Dates-and-Locations</link>
        <guid>https://www.nr2f1.org/en/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 Sibling’s Perspective on Rare Disease]]></title>
        <link>https://www.nr2f1.org/en/news/blog/a-siblings-perspective-on-rare-disease</link>
        <guid>https://www.nr2f1.org/en/news/blog/a-siblings-perspective-on-rare-disease</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[April 10 is National Sibling Day. So we are turning April into ‘Sibling Month’. To mark this, Brian Read, NR2F1 Foundation Treasurer has graciously agreed to share his very personal story of being a brother to his wonderful sister, Stephanie, who had Ohtahara Syndrome. ]]></description>
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        <title><![CDATA[Update From Our BBSOAS Full-Time Researcher Dr. Wassmer]]></title>
        <link>https://www.nr2f1.org/en/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</link>
        <guid>https://www.nr2f1.org/en/news/blog/update-from-our-bbsosas-full-time-researcher-dr-wassmer</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Dr. Wassmer shares the latest developments of the work she is doing for BBSOAS in Dr. Schaaf's lab at Heidelberg University.]]></description>
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        <title><![CDATA["My 56-year-old Daughter Has Just Been Diagnosed"]]></title>
        <link>https://www.nr2f1.org/en/news/blog/my-56-year-old-Daughter-Has-Just-Been-Diagnosed</link>
        <guid>https://www.nr2f1.org/en/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, NR2F1 Foundation President and Carlie, Vice President and Co-Founder had a conversation with Icle and Bobby, parents from Georgia about her 56 year old daughter Susan who was recently diagnosed with BBSOAS. The parents shared their amazing journey with Susan from infancy to now.]]></description>
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        <title><![CDATA[Meet Student Volunteer Abigayle Nafus]]></title>
        <link>https://www.nr2f1.org/en/news/blog/meet-student-volunteer-abigayle-nafus</link>
        <guid>https://www.nr2f1.org/en/news/blog/meet-student-volunteer-abigayle-nafus</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Abigayle Nafus, from Kean University's Genetic Counseling Graduate Program has stepped up to volunteer with the NR2F1 Foundation. She is assisting the NR2F1 Foundation President with the worldwide BBSOAS patient count.]]></description>
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        <title><![CDATA[BBSOAS Grief, Resilience and Wonderment]]></title>
        <link>https://www.nr2f1.org/en/news/blog/bbsoas-grief-resilience-and-wonderment</link>
        <guid>https://www.nr2f1.org/en/news/blog/bbsoas-grief-resilience-and-wonderment</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Mom and NR2F1 Foundation board member, Ashlee Manjon-Stierstorfer shares about her feelings of grief and uncertainty, when Emma (now 7 years old) was first diagnosed and how that feeling never quite leaves, but you find ways to live with it. ]]></description>
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        <title><![CDATA[BBSOAS and Bioinformatics Analysis Discovery Update]]></title>
        <link>https://www.nr2f1.org/en/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</link>
        <guid>https://www.nr2f1.org/en/news/blog/bbsoas-and-bioinformatics-analysis-discovery-update</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Dr. Magdalena Laugsch and her team at the Institute of Human Genetics, Heidelberg University, Germany, have made an important step in biomarker discovery for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS).They conducted a comprehensive analysis and identified 13 promising candidate biomarkers.]]></description>
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        <title><![CDATA[Inspire Change: Host Your Own Fundraiser for the NR2F1 Foundation ]]></title>
        <link>https://www.nr2f1.org/en/news/blog/host-fundraiser-for-the-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/en/news/blog/host-fundraiser-for-the-nr2f1-foundation</guid>
        <pubDate>Tue, 15 Apr 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[Kaileigh, a mother from North Carolina, shares her inspiring story about how she organized a community walk to raise funds for BBSOAS. From planning the event until overcoming the challenges, Kaileigh's experience shows that organizing a fundraising walk can be rewarding and have a great impact.]]></description>
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        <title><![CDATA[BBSOAS Research - Fruit Fly Drug Repurposing Project]]></title>
        <link>https://www.nr2f1.org/en/news/blog/fruit-fly-drug-repurposing-project</link>
        <guid>https://www.nr2f1.org/en/news/blog/fruit-fly-drug-repurposing-project</guid>
        <pubDate>Wed, 12 Mar 2025 00:00:00 GMT</pubDate>
        <description><![CDATA[NR2F1 Foundation President, Jennifer Coughlin speaks with Dr. Clement Chow, Professor of Human Genetics at the University of Utah. He shared some fascinating insights on our fruit fly drug repurposing research.]]></description>
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        <title><![CDATA[NR2F1 Foundation Issues Bioinformatics Analysis Grant to Dr Laugsch]]></title>
        <link>https://www.nr2f1.org/en/news/blog/nr2f1-foundation-issues-bioinformatics-analysis-grant-to-dr-laugsch</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-president-heads-to-d-c-for-2024-nord-conference</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-foundation-grant-for-research</link>
        <guid>https://www.nr2f1.org/en/news/blog/nr2f1-foundation-grant-for-research</guid>
        <pubDate>Mon, 29 Jul 2024 14:30:46 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation issued a grant to Dr. Magdalena Laugsch to support her attending the The European Society of Human Genetics 2024 conference. Dr. Laugsch is the team leader for a lab at the Institute of Human Genetics at Heidelberg University Hospital that studies neurodevelopmental disorders related to the neural crest. The conference provided an opportunity for two members]]></description>
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        <title><![CDATA[Meet Jennifer Coughlin, New NR2f1 Foundation Board President]]></title>
        <link>https://www.nr2f1.org/en/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</link>
        <guid>https://www.nr2f1.org/en/news/blog/jennifer-coughlin-new-nr2f1-foundation-board-president</guid>
        <pubDate>Thu, 16 May 2024 09:10:00 GMT</pubDate>
        <description><![CDATA[Jennifer Coughlin has been appointed the new President of the Board of Directors of the NR2F1 Foundation. Carlie Monnier, who has held the position since the beginning, is taking over the role of vice-president. To introduce Jennifer to the BBSOAS family and community, here is Jennifer in her own words.]]></description>
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        <title><![CDATA[2024 Family and Scientific Conference was a Resounding Success]]></title>
        <link>https://www.nr2f1.org/en/news/blog/2024-family-scientific-conference-a-resounding-success</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/2023-the-year-in-review-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/research-strategy-goals</link>
        <guid>https://www.nr2f1.org/en/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[Development of a Research Strategy for NR2F1, 2023-2025]]></title>
        <link>https://www.nr2f1.org/en/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</link>
        <guid>https://www.nr2f1.org/en/news/blog/nr2f1-to-host-strategic-research-mtg-oct-2025</guid>
        <pubDate>Wed, 20 Sep 2023 17:55:38 GMT</pubDate>
        <description><![CDATA[The NR2F1 Foundation will be hosting a research development meeting next month at the University of Denver in Colorado, all day Saturday October 7, 2023. Participants will include NR2F1 Foundation Board Members, Scientific Advisors, and local BBSOAS families who live in the area.]]></description>
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        <title><![CDATA[10th Annual Million Dollar Bike Ride Was a Success!]]></title>
        <link>https://www.nr2f1.org/en/news/blog/10th-annual-million-dollar-bike-ride-was-a-success</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/baking-a-big-impact</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/celebrating-launch-of-bbsoas-clinic</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/2023-million-dollar-bike-ride-fundraising-nr2f1-foundation</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/first-bbsoas-cvi-clinic</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-foundation-strategic-planning-meeting</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-foundation-looks-back-at-2022</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-research-fundraising-campaign</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-foundation-chicago-marathon-fundraising-results</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/2022-report-on-rare-disease-genetic-testing</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/irish-para-athlete-diagnosed-with-bbsoas</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/chicago-marathon-fundraiser-for-nr2f1-foundation-research</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/edith-one-familys-story-with-bbsoas</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-foundation-receives-matching-grant</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/new-members-to-the-board-of-directors</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-scientific-conference-for-families-was-a-success</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/nr2f1-foundation-is-a-new-member-of-the-rare-epilepsy-network</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/holiday-guides-for-bbsoas-families-and-their-supporters</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/bbsoas-grandparent-support-group</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/exclusive-interview-with-zeb</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/2021-research-update</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/meet-simon-from-chile</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/emma</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/charly</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/ebony</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/meet-3-yr-old-aydn</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/henry</link>
        <guid>https://www.nr2f1.org/en/news/blog/henry</guid>
        <pubDate>Thu, 18 Nov 2021 13:35:21 GMT</pubDate>
        <description><![CDATA[]]></description>
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        <title><![CDATA[Sassy – Intuitive – DETERMINED…Meet 6 yr old Brooklyn from Florida!]]></title>
        <link>https://www.nr2f1.org/en/news/blog/sassy-intuitive-determined-meet-6-yr-old-brooklyn-from-florida</link>
        <guid>https://www.nr2f1.org/en/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/en/news/blog/first-international-bbsoas-awareness-day</link>
        <guid>https://www.nr2f1.org/en/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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