Join us on Saturday, 26 October, for our next MSF Family & Patient Research Q&A session. We'll discuss "Beyond TGF-beta: How SMAD4 Shapes Puberty, Autism, and Learning in Myhre Syndrome." Join us in exploring the role of SMAD4 in the brain and endocrine system, focusing on how other receptors influence key manifestations of Myhre syndrome. From puberty to autism, bone growth, and cognitive functions like learning and memory, we’ll explore the impacts that go beyond TGF-beta pathways, such as fibrosis. You’ll leave the session learning more about the importance of understanding how other receptors contribute to the complex presentation of Myhre syndrome. Sign up at https://lnkd.in/gnZTGQb2
Myhre Syndrome Foundation’s Post
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September 30th, 2024 is the 10th anniversary of Limb-Girdle Muscular Dystrophy Awareness Day, a global effort to raise awareness of individuals living with limb-girdle muscular dystrophy (LGMD). LGMD encompasses a group of rare conditions that weaken the proximal muscles, meaning the muscles closest to the center of the body, such as the shoulders and hips. The cause of LGMD is tied to mutations of different genes whose responsibility is to provide instructions for making proteins involved in muscle maintenance and repair. Symptoms can appear in childhood, young adulthood, or adulthood and primarily involve muscle and joint weakness. As a dedicated partner in the rare disorder community, we are committed to supporting research, fostering understanding, and advocating for those impacted by LGMD. Learn more at https://lnkd.in/e_ePwS8Z #LimbGirdleAwarenessDay #LGMDAwareness #LGMDDay2024 #ClinicalResearchOrganization #ClinicalTrials #DuchenneAwareness #MuscularDystrophy #MuscularDystrophyResearch #RareDiseaseResearch #ResearchForACure #PatientDrivenResearch
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Senior Neuroscience Account Manager and Presidents Club Winner 2022 at SK Life Science, Inc.
Learn about our latest data and latest news. #sklsi #sk #neurology #epilepsy
At SK Life Science, we are committed to maximizing the potential of our current treatment and dedicated to finding new ones that will address the needs of those living with a CNS disorder. Learn about our latest data at #AAN2024: https://lnkd.in/eptW7atU
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Associate Professor, Geisinger; PhD candidate, Translational Health Sciences, George Washington University
🎉 Congratulations to Caitlin Harrington on publishing her genetic counseling master's thesis! It was a true pleasure to serve on her committee. Her data demonstrate the utility of genetic testing for autism and show interesting differences in ordering provider specialties, as well as diagnostic yield differences across testing platforms and patient demographics. These insights advance genetic counseling for autism indications. Well done, Caitlin! 👏 #GeneticCounseling #AutismResearch #ThesisSuccess #GeneticTesting
Excited to share that my master’s thesis entitled ‘Implications of provider specialty, test type, and demographic factors on genetic testing outcomes for patients with autism spectrum disorder’ has been published in the Journal of Autism and Developmental Disorders! You can access it at this link: https://rdcu.be/dKys3 A huge thanks to my thesis committee and coauthors Ana Morales, MS, CGC, Laurel Calderwood, and Dr. Jonathan Bernstein.
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🔮💜 Get your purple ready for tomorrow... it's Purple Day on Tuesday, March 26th! 💜🔮 Tomorrow is a special day dedicated to raising awareness about epilepsy and seizures, and we need your support! Wear your favourite shade of purple to show solidarity and spread awareness. 💜 Why is Purple Day important? Because it sheds light on a neurological disease that affects millions worldwide. It's a reminder that epilepsy isn't something to fear... it's something to understand and support each other through. Here's how you can get involved: 1️⃣ Wear purple tomorrow! Show your support visually. 2️⃣ Share a fact about epilepsy or a personal story to raise awareness. 3️⃣ Educate yourself and others about epilepsy and seizures. Knowledge is power. 4️⃣ Show compassion and empathy to those living with epilepsy. A little understanding goes a long way. Let's break the stigma surrounding epilepsy together. Together, we can make a difference. 💪💜 #PurpleDay #EpilepsyAwareness #EndTheStigma #DurhamRegion #DDSB #DCDSB
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Did you know that many children with blindness have perfectly healthy eyes? Instead, their blindness is caused by damage to the visual processing areas of the brain, known as cortical/cerebral visual impairment (CVI), which often goes undiagnosed. To better understand this “hidden epidemic,” we partnered with the Perkins School for the Blind on a sweeping research study that involved collecting and analyzing data, creating a machine learning engine, mapping out the data into a visualization, and overlaying it with county-level data of social risk factors. The findings? There are potentially 156,000 children with CVI who haven’t been diagnosed. With the right therapies, these children have the potential to improve their functional vision. Discover how these insights are helping guide crucial next steps in advocating for CVI patients. https://mck.co/4cV7qxJ
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🟣 "Shine a Light on Epilepsy: Celebrate Purple Day!" 🌟 Join us in raising awareness for epilepsy on Purple Day! Let's come together to show support for those living with epilepsy and spread knowledge about this neurological condition. 💜 Spread Awareness: Share this flyer with friends, family, and colleagues to spread awareness about epilepsy and Purple Day. Wear purple on Purple Day to show your support and solidarity. Together, let's shine a light on epilepsy and empower those living with the condition! 💜🌟 #PurpleDay #EpilepsyAwareness
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🟣 "Shine a Light on Epilepsy: Celebrate Purple Day!" 🌟 Join us in raising awareness for epilepsy on Purple Day! Let's come together to show support for those living with epilepsy and spread knowledge about this neurological condition. 💜 Spread Awareness: Share this flyer with friends, family, and colleagues to spread awareness about epilepsy and Purple Day. Wear purple on Purple Day to show your support and solidarity. Together, let's shine a light on epilepsy and empower those living with the condition! 💜🌟 #PurpleDay #EpilepsyAwareness
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For those recently diagnosed with epilepsy, know that you're not alone. Our "New to Seizures and Epilepsy" Toolkit is designed to support you on your journey. From navigating daily life to equipping yourself with the right questions for your next doctor's visit, we're here to help. Explore the toolkit today: https://bit.ly/3PqsN0I
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Generation O: Babies born with prenatal opioid exposure during the ongoing opioid crisis
October is Opioid-Exposed Children Awareness Month. Generation O: The National Organization for Opioid-Exposed Children is sharing research-backed facts about prenatal opioid exposure every day. I invite you to share these posts and bring awareness to the unique needs of these children. "NAS is not simply a complex array of clinical signs expressed by a substance-exposed infant. It also represents complicated social, physical, and psychological stressors for the mother-infant dyad." The Science: https://lnkd.in/e7iJph2f
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Knowledge is empowering. The Newly Diagnosed Toolkit is filled with information, insights, and resources that will help you understand and manage epilepsy. This toolkit is designed to give you the tools you need to make informed decisions. Start your journey with confidence—explore the toolkit today: https://lnkd.in/ezhWCWWd
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