<?xml version="1.0" encoding="UTF-8"?><rss xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:content="http://purl.org/rss/1.0/modules/content/" xmlns:atom="http://www.w3.org/2005/Atom" version="2.0"><channel><title><![CDATA[Rare Birds Foundation]]></title><description><![CDATA[Rare Birds Foundation]]></description><link>https://www.rarebirdsfoundation.org/blog</link><generator>RSS for Node</generator><lastBuildDate>Sat, 11 Apr 2026 13:52:46 GMT</lastBuildDate><atom:link href="https://www.rarebirdsfoundation.org/nl/blog-feed.xml" rel="self" type="application/rss+xml"/><item><title><![CDATA[Rediscovering ADSLD, Recording 7, Dr. Matteo Bordi]]></title><description><![CDATA[Dr. Matteo Bordi presents recent research on mitochondrial metabolism in ADSL deficiency, highlighting the complexity of ADSL Deficiency and the need for further research to understand its underlying mechanisms and potential treatments. He explained how mitochondrial morphology and activity are affected in ADSL-deficient cells, with more severe defects in cells from patients with more severe disease. The research team used various models, including human cells, fruit flies, and mice, to study...]]></description><link>https://www.rarebirdsfoundation.org/post/rediscovering-adsld-recording-7-dr-matteo-bordi</link><guid isPermaLink="false">690bd7e8988cdeb684f995c3</guid><pubDate>Wed, 05 Nov 2025 23:05:46 GMT</pubDate><enclosure url="http://youtu.be/nGYRBFxQMiY" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Rediscovering ADSLD, Recording 6, Dr. Manoj Pandey]]></title><description><![CDATA[Dr. Pandey discusses how genetic enzyme deficiencies can act as critical drivers of complement activation  and inflammation in distinct metabolic disorders. In Gaucher disease, deficiency of the lysosomal enzyme glucocerebrosidase leads to pathological accumulation of glucosylceramide, which triggers complement activation and drives both visceral and neuroinflammatory responses. Similarly, in ADSL deficiency disorder (ADSLDD), loss of adenylosuccinate lyase (ADSL) function results in...]]></description><link>https://www.rarebirdsfoundation.org/post/rediscovering-adsld-recording-6-dr-manoj-pandey</link><guid isPermaLink="false">690a14faaa0a315edf69d668</guid><pubDate>Tue, 04 Nov 2025 15:03:27 GMT</pubDate><enclosure url="http://youtu.be/7Km556WFG-E" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Rediscovering ADSLD, Recording 5, Dr. Wendy Hanna-Rose]]></title><description><![CDATA[AN "EASIER TO UNDERSTAND" PRESENTATION GEARED TOWARDS RARE BIRDS FAMILIES AND SCIENTISTS ALIKE! Dr. Hanna-Rose presents her research using C. elegans worms to study the treatment of ADSL deficiency, focusing on three main phenotypes: uncoordinated movement, learning defects, and neuromuscular junction problems. She explained how these phenotypes are linked to SAICAR toxicity and potential interference with production of tyramine and dopamine, which are both synthesized from tyrosine. Wendy's...]]></description><link>https://www.rarebirdsfoundation.org/post/rediscovering-adsld-recording-5-dr-wendy-hanna-rose</link><guid isPermaLink="false">6904dc81bb9a5281a8a88c83</guid><pubDate>Fri, 31 Oct 2025 16:09:07 GMT</pubDate><enclosure url="http://youtu.be/DtyU91t9hic" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Rediscovering ADSLD, Recording 4, Dr. Marie Zikánová]]></title><description><![CDATA[Dr. Zikánová presents a case report on a new nonsense variant in the ADSL gene that led to a severe prenatal form of ADSL deficiency in a non-viable fetus. Despite normal initial genetic tests, functional studies revealed that the mother's seemingly benign synonymous variant was, in fact, pathogenic. This discovery, which was uploaded to a public variant database, allows for potential prenatal and preimplantation genetic diagnosis in families with this variant, demonstrating the importance of...]]></description><link>https://www.rarebirdsfoundation.org/post/rediscovering-adsld-recording-4-dr-marie-zik%C3%A1nov%C3%A1</link><guid isPermaLink="false">6903d59a20b7c87bc086e72e</guid><pubDate>Thu, 30 Oct 2025 21:16:48 GMT</pubDate><enclosure url="http://youtu.be/t9Hfj88cC88" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Rediscovering ADSLD, Recording 3, Dr. Sylvia Sanquer]]></title><description><![CDATA[Dr. Sanquer presents findings from a study on the treatment of ADSL Deficiency with Allopurinol, highlighting improvements in younger and less severely impacted patients. The study showed a positive clinical and biological response to allopurinol in some patients, with reduced agitation and hyperactivity noted. Participants discussed the potential benefits and side effects of allopurinol for young children with mild ADSLD. Neither this post nor the above video constitutes medical advice....]]></description><link>https://www.rarebirdsfoundation.org/post/rediscovering-adsld-recording-3-dr-sylvia-sanguer</link><guid isPermaLink="false">6902760dadf13dd214c9b5df</guid><pubDate>Wed, 29 Oct 2025 20:17:37 GMT</pubDate><enclosure url="http://youtu.be/95dgo5xjluA" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Rediscovering ADSLD, Recording 2,         A Conversation with Natalie K. Watson]]></title><description><![CDATA[Natalie Watson shares her experience as a Rare Bird mom from Australia in a discussion about loving, losing and honoring the legacy of her late sons, William and Hamish, who were diagnosed with ADSL Deficiency in 2010. Interspersed with Rare Birds community poll results, the conversation delves into topics including early signs of the disorder, the creation of the Facebook Support Group “Our Journey with ADSL Deficiency” and how it has advanced research into the disorder, paving the way for...]]></description><link>https://www.rarebirdsfoundation.org/post/rediscovering-adsld-recording-2-a-conversation-with-natalie-k-watson</link><guid isPermaLink="false">6900ec4015073ecb94308c19</guid><pubDate>Tue, 28 Oct 2025 18:03:32 GMT</pubDate><enclosure url="http://youtu.be/gSGvM2PbH9I" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Rediscovering ADSLD, Recording 1, A Year in Review ]]></title><description><![CDATA[In this video, Nicole Lytle provides an impact report for Rare Birds Foundation's second year, highlighting their mission to support families with ADSLD and related purine disorders. She discusses hitting a milestone of 200 documented patients, introduces board members, and highlights various initiatives including research partnerships, the development of a Clinical Care Guide, and educational resources to “Explain ADSLD to a Kid.” Nicole also announces plans for a dedicated RBF online...]]></description><link>https://www.rarebirdsfoundation.org/post/recording-1-from-rediscovering-adsld</link><guid isPermaLink="false">68fff2c60b31cbff20fc68b5</guid><pubDate>Mon, 27 Oct 2025 22:35:55 GMT</pubDate><enclosure url="http://youtu.be/V8TFkqR3yQQ" length="0" type="video"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[We've added another member to our family!]]></title><description><![CDATA[The family of course, is Disorders of Purine Metabolism or DPM. Dr. Marie Zikanova, a Scientific Advisor for Rare Birds Foundation, and...]]></description><link>https://www.rarebirdsfoundation.org/post/we-ve-added-another-member-to-our-family</link><guid isPermaLink="false">68378a1a2bb50bcaebb999f3</guid><pubDate>Wed, 28 May 2025 23:28:27 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_230c89ea856246b092d372a996723192~mv2.png/v1/fit/w_1000,h_907,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Taking an "Andrew Moment" ]]></title><description><![CDATA[May 4th is recognized as Bereaved Mother's Day. Today, I'd like to share words from Rare Bird Mom Karen Peet, who lost her son Andrew one...]]></description><link>https://www.rarebirdsfoundation.org/post/taking-an-andrew-moment</link><guid isPermaLink="false">681900b1e1e7656c54fc57db</guid><pubDate>Mon, 05 May 2025 18:26:58 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_96e88825e5b1481e896a36cc81c97fc9~mv2.png/v1/fit/w_834,h_1000,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Spark Curiosity 2024 - Our First RESEARCH SYMPOSIUM for ADSL Deficiency]]></title><description><![CDATA[Oct. 16, 2024 - RBF brought together 5 pre-eminent scientists and 1 Mom for "Spark Curiosity"  our Virtual Research Symposium]]></description><link>https://www.rarebirdsfoundation.org/post/spark-curiosity-2024-our-first-research-symposium</link><guid isPermaLink="false">6716dce17e226ea8ddd7af8b</guid><category><![CDATA[Research]]></category><pubDate>Tue, 22 Oct 2024 04:17:01 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_a7a4390639d242f0bc6cbc50123960ca~mv2.png/v1/fit/w_1000,h_1000,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>Nicole Lytle</dc:creator></item><item><title><![CDATA[Extra! Extra! News from the Birds]]></title><description><![CDATA[Last week we joined Ethan Perlstein and his team from Perlara to learn what compounds may potentially treat ADSLD. ]]></description><link>https://www.rarebirdsfoundation.org/post/extra-extra-news-from-the-birds</link><guid isPermaLink="false">669bfbc904b03a958bd2d943</guid><category><![CDATA[Research]]></category><pubDate>Sat, 20 Jul 2024 20:47:05 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_8c2bbcbf70bc4c3fa4aec25a72e4bb36~mv2.png/v1/fit/w_1000,h_777,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>Nicole Lytle</dc:creator></item><item><title><![CDATA[Blame it On Shakespeare : Part Two]]></title><description><![CDATA[I have to admit, I spent years after my children were diagnosed unable to explain what ADSLD was and how it affected their bodies. I...]]></description><link>https://www.rarebirdsfoundation.org/post/blame-it-on-shakespeare-part-two</link><guid isPermaLink="false">661dbbf2628ef1a18be09f0d</guid><pubDate>Wed, 24 Apr 2024 20:34:43 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_8b049c13116842e2b22a54428b646e84~mv2.png/v1/fit/w_463,h_594,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Blame it on Shakespeare : Part One]]></title><description><![CDATA[ADSLD is considered an autosomal recessive disorder. What the hell does that mean? Let’s figure it out… 'Autosomal' refers to the type of...]]></description><link>https://www.rarebirdsfoundation.org/post/blame-it-on-shakespeare-part-one</link><guid isPermaLink="false">661af3ac72908214f206bad7</guid><pubDate>Sat, 13 Apr 2024 22:17:00 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_3cfaaff3a62e4d7bbec96cdb82a9e35b~mv2.jpg/v1/fit/w_1000,h_1000,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[Worms!]]></title><description><![CDATA[This is a Caenorhabditis elegans worm. Commonly known as c. elegans, this worm is very important to children with ADSLD. Coming in at...]]></description><link>https://www.rarebirdsfoundation.org/post/worms</link><guid isPermaLink="false">65f09c91a9a47ac0a7479628</guid><pubDate>Tue, 12 Mar 2024 18:43:43 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_00ad64fd05234ddd895541128b7b86db~mv2.png/v1/fit/w_653,h_242,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[What's New with The Birds?]]></title><description><![CDATA[It's been a tough month for us Lytles. A hospital stay for Jonah (not uncommon for an ADSLD Warrior) and an epic fail for both kids...]]></description><link>https://www.rarebirdsfoundation.org/post/what-s-new-with-the-birds</link><guid isPermaLink="false">65c295cf18f0fd1de33b8dab</guid><pubDate>Tue, 13 Feb 2024 18:46:08 GMT</pubDate><enclosure url="https://static.wixstatic.com/media/0a3382_ff0c3048ecfa4c3fa98ba545d7da2585~mv2.jpeg/v1/fit/w_1000,h_1000,al_c,q_80/file.png" length="0" type="image/png"/><dc:creator>rarebirdsadsl</dc:creator></item><item><title><![CDATA[A Word from The Birds]]></title><description><![CDATA[Welcome to our blog! This post is coming from Nicole, Jonah and Flora's Mom. But, you will hear lots of voices here. Parents,...]]></description><link>https://www.rarebirdsfoundation.org/post/a-word-from-the-birds</link><guid isPermaLink="false">6594ef1904d11051cad5a251</guid><pubDate>Wed, 03 Jan 2024 06:21:46 GMT</pubDate><dc:creator>Nicole Lytle</dc:creator></item></channel></rss>