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X-WR-CALDESC:Events for Positive Exposure
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SUMMARY:Chromosome 18 Registry & Research Society Conference: Ontario\, Canada
DESCRIPTION:Conference Presentation and Photography: Ontario\, Canada (Niagara Falls) \nTo the parents of a newly diagnosed child: \nYour baby was just diagnosed with a chromosome 18 abnormality and you may feel like all your dreams for your child just came crashing down. However\, we are here to tell you that this is not a negative life event; but rather a change in plans. We are here to catch you\, inspire and support your new dreams for your child and for your family. Welcome to our chromosome 18 family. \nFor over 30 years we have been helping parents\, grandparents\, caregivers\, extended family\, siblings\, and individuals with chromosome 18 conditions connect to the other 4\,000 families in the USA and another 2\,000 around the world. From this community you will find people who know exactly what you are feeling. They have already been in the place you are now. You can meet them through social media\, virtual get-togethers regional events\, and our Annual Family Conference. In addition\, some of our families have posted their stories on this website. Most importantly\, know that you are not alone.
URL:https://positiveexposure.org/event/chromosome-18-registry-nand-research-society-conference-ontario-canada/
CATEGORIES:Lectures & Presentations,Photography and Film
ATTACH;FMTTYPE=image/jpeg:https://files.positiveexposure.org/wp-content/uploads/2025/07/07222601/Rick.jpg
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DTSTART;TZID=America/New_York:20250723T080000
DTEND;TZID=America/New_York:20250724T170000
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SUMMARY:ReNU Syndrome United Conference: Uniondale\, NY
DESCRIPTION:Presentation and Photography: Long Island Marriott\, Uniondale\, NY \nIn the Press: ReNU Washington Post Cover Story Unique_Autumn2024MagazineNo100_RNU4-2 \nWhat Do We Know About ReNU Syndrome?\nRNU4-2 / ReNU Syndrome is a neurodevelopmental disorder caused by variants in the RNU4-2 gene.  \nVariants in the RNU4-2 gene\, a non-coding gene responsible for producing U4 snRNA\, have been identified as a significant cause of previously undiagnosed neurodevelopmental disorders. These variants\, particularly the insertion of a T between positions 64 and 65 of the gene\, disrupt the RNA splicing process\, causing errors in how RNA is processed and leading to improper protein synthesis. This exciting discovery highlights the importance of whole-genome sequencing\, as traditional exome sequencing often overlooks non-coding genes like RNU4-2. \nThe name “ReNU” was given by families and researchers to symbolize the “renewed hope” for a better future for those affected. This diagnosis opens avenues for future research and potential treatments for those affected\, and aids in the understanding that there wasn’t anything parents did prior to or during pregnancy to cause the disorder. \nReNU Syndrome is currently characterized by hypotonia\, global developmental delay\, severely impaired intellectual development with poor or absent speech\, delayed walking or inability to walk\, feeding difficulties with poor overall growth\, seizures (in most)\, dysmorphic facial features\, and brain anomalies\, including ventriculomegaly\, thin corpus callosum\, and white matter loss (Greene et al.\, 2024; Schot et al.\, 2024; Chen et al.\, 2024).
URL:https://positiveexposure.org/event/renu-syndrome-conference-uniondale-ny/
CATEGORIES:Lectures & Presentations,Photography and Film
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DTSTART;TZID=America/New_York:20250723T130000
DTEND;TZID=America/New_York:20250723T150000
DTSTAMP:20260429T203912
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LAST-MODIFIED:20250710T215957Z
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SUMMARY:Philadelphia College of Osteopathic Medicine (PCOM)
DESCRIPTION:First year medical student lecture. \nABOUT PCOM\nFor more than a century\, Philadelphia College of Osteopathic Medicine (PCOM) has trained highly competent\, caring physicians\, health practitioners and behavioral scientists who practice a “whole person” approach—treating people\, not just symptoms. \nAt our Pennsylvania and Georgia locations\, PCOM students can choose from several degree or certificate programs and learn to approach problem solving in a more professional\, more team-oriented manner\, which prepares them to work successfully in integrated healthcare settings with other health professionals. Our campuses feature modern facilities and state-of-the-art technologies\, all part of an innovative learning environment designed for collaboration and interaction. \n 
URL:https://positiveexposure.org/event/philadelphia-college-of-osteopathic-medicine-pcom/
CATEGORIES:Lectures & Presentations
ATTACH;FMTTYPE=image/png:https://files.positiveexposure.org/wp-content/uploads/2025/07/07222555/Screenshot-2025-07-10-at-5.58.16%E2%80%AFPM.png
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