Title: Okur-Chung Neurodevelopmental Syndrome-linked CK2 variants have reduced kinase activity Link to Paper: https://rdcu.be/cjYNS Authors: Dominguez I, Cruz-Gamero JM, Corasolla V, Dacher N, Rangasamy S, Urbani A, Narayanan V, and Rebholz H Research Explained By: Dr. Heike Rebholz Research Explained Summary: All patients diagnosed with OCNDS share one thing in common: they have one...
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Join us on Sunday, March 14th at 12:00pm EASTERN to speak to Jennifer Tjernagel, the Simons Searchlight Senior Project Manager, about the CSNK2A1/OCNDS research opportunity. This Q and A will be recorded. Register in advance for this Q and A here. After registering, you will receive a confirmation email containing information about joining the...
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Last week our President, Jennifer Sills, shared her daughter Jules’ story at the California Rare Disease Caucus at which assembly members were present. Thank you to CAL RARE and Angela Ramirez Holmes for giving her the opportunity to share how COVID is affecting those with rare disease. The hearing video is on their website:...
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by Erica Lee Trevino “My son, Jordan is 6 years old and has OCNDS. I want to bring awareness to our community about OCNDS. Today, here in the Rio Grande Valley, we held an awareness event at his elementary school. It made me feel so amazed how much support he had from his own...
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Amanda (at right) graduating with her proud sister, Madie, by her side. by Jacquie Lopez “3 weeks ago my eldest daughter, Amanda, had a job interview at Inspire Me Bracelets. Her sister Madie just wanted to go with her to the interview. Amanda didn’t want to tell her no and hurt Madie’s feelings. Even...
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By Myrthe Dolstra Our Timo was born on 11/22/2016, I was exactly 37 weeks pregnant. It was a tiny man with long blond hairs. It was a lot smaller and lighter than expected, but we were not worried at the time. We were in love with our little man. After 6 months, it started...
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We Had No Idea Rare Disease Day Reflection from a Rare Warrior Mama, Amber Reynolds: When Harper was born we had no idea about genetic diseases, developmental disabilities, and that sometimes “healthy” babies have underlying problems that show up well after birth. We had no idea that 9 months later our lives would be...
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We are excited to announce our 2nd family and research conference. In collaboration with Simons Searchlight, we will have a joint family and research conference with 3 other patient organizations that present similarly to ours. When? Thursday, August 6th - Scientific Day for Researchers Friday, August 7th - 9th - Family Conference and Research...
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It was a warm and sunny day on Monday April 22, 2019 in Tarzana, California. It was a perfect day for golf! We had a tremendous turn out for the Drive for Diagnosis Golf Classic at El Caballero Country Club. 113 Golfers came out for our 1st Golf Classic to support our collaborative efforts...
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2018 YEAR IN REVIEW One year ago on Rare Disease Day, we launched the official website for CSNK2A1 Foundation (the “Foundation”). The Foundation just celebrated its first year! We made tremendous progress in our inaugural year. Here are a few things this young organization accomplished in its opening year! We started to fund a...
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