MEF2C FOUNDATION
MEF2C Foundation UK
1202843
2023
EC1V 2NX
mef2cfoundation.com
mef2cfoundation
mef2cfoundation
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Novinky
Ever feel like you need a PhD just to parent? Welcome to the MEF2C & MCHS Dictionary — where science meets sass and hope is always trending. 💙 ⚠️ Disclaimer: This dictionary is 100% unofficial, 0% peer-reviewed, and powered entirely by sleep deprivation and love. It’s meant to bring a smile, not replace your geneticist, neurologist, or clinical trial coordinator. For actual science, trust the experts - for sass, you are in the right place. 😎 #RareButMighty #MEF2C #MCHS #NaturalHistoryHeroes #PushchairPower #ParentAdvocateLife #Charity #DoGood #RareDiseaseAwareness #Strive4Five @mef2c_hilfsorganisation @rarebirdorg @mef2c_foundation_australia @asociacionmef2c @mef2cfamilyfoundation @alaingreige @muscmind @weillcornell Asociación MEF2C MEF2C Hilfsorganisation e.V. MEF2C Foundation Australia MEF2C Family Foundation (fb)
🎉 Tuesday Prize Drop Alert! 🎉 We’re kicking off the countdown to the Sellebrity Soccer Match at Hartley Wintney FC on 28th September with a cheeky little teaser 👀... More prizes to be revealed soon... but trust us, you’ll want to be there. Tag your squad and get ready for a day of footy, fun, and fantastic giveaways! 🏆 #TuesdayPrizeDrop #CelebritySoccer #MEF2C #MCHS #HartleyWintneyFC #RaffleReveal #Sellebrity Soccer @sellebrity_soccer_non_league @vikki_lawrance @hartleywintneyfc @oakwoodbuildersdevelopmentsltd (fb)
Poslední komentáře
Absolutely inspired by the incredible work the MEF2C Foundation is doing! Let's raise awareness and support research to help those affected by MEF2C-related conditions. Together, we can make a difference! 💙🌟detail |
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Count me in for supporting the MEF2C Foundation! It's so important that we push for better understanding and treatments for MCHS. Every little bit helps to bring hope to families in need! 🙌💪detail |
Poslední diskuze
1. What strategies can we implement to raise awareness about MEF2C Haploinsufficiency Syndrome among healthcare professionals and the public?Odpovědí: 3, Naposledy před 1 den detail |
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2. How can we foster collaboration between researchers and families affected by MEF2C gene-related disorders to accelerate treatment development?Odpovědí: 3, Naposledy před 1 den detail |
V okolí
4.5
EC1V 2NX
O společnosti
- H30, G20, H20 -
The MEF2C Foundation is partnering with scientists to accelerate groundbreaking research with the aim being to develop a treatment for those with MEF2C associated conditions whilst providing information and support for our families along the way What is MEF2C and MEF2C Haploinsufficiency Syndrome. MEF2C Haploinsufficiency Syndrome MCHS is a profoundly challenging neurodevelopmental disorder that occurs when one copy of the MEF2C gene is deleted or mutated resulting in dysfunction of the MEF2C protein. First described in 2009 these variations in the MEF2C gene cause significant cognitive and physical impairments. Individuals often experience severe to profound developmental delay low muscle tone hypotonia seizures absent speech stereotypic movements and subtle characteristic facial features.
Výzkum rakoviny Vrozené vady, genetická onemocnění Výzkum vrozených vad a genetických onemocnění
