A genetic test helped baby Rowan’s doctors diagnose his epilepsy and led his parents to a community of families just like theirs. Read Rowan’s story here: https://invit.ae/3wym8uj
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🌻 “Sunflower syndrome is a unique photosensitive epilepsy, characterized by heliotropism and stereotyped seizures associated with handwaving". Do you know this syndrome? For more information about Sunflower, do not miss the EpiCARE Genetic Platform: https://lnkd.in/epZRBtWy. There you have available the publication of the study! 🔍 How You Can Help: If you or someone you care for is affected by Sunflower Syndrome, we kindly ask you to complete a brief questionnaire aimed at evaluating the effectiveness of various medications. Your input is invaluable in advancing our understanding and treatment of this highly stereotyped epilepsy syndrome. 📝 Take the Survey: https://lnkd.in/eXi7YxTT #SunflowerSyndrome #EpiCARE #GeneticResearch #Epilepsy #Website #EU4Health #HealthUnion
Collaborative Genetic Research - EpiCARE
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Cerebral palsy is a group of conditions that affect movement and is one of the most common causes of motor challenges in children. Genetic testing can help establish a definitive diagnosis and find answers. Our Cerebral Palsy Disorders Panel analyzes 419 genes associated with motor development deficits, including spastic movement disorders, ataxia, and dystonia. To ensure our patients receive meaningful answers, our ordering process is supported by an expert genetic counseling and customer service team, ensuring no question goes unanswered. Learn more: https://bit.ly/3W0eW4P #ThinkBG #BGreat #CerebralPalsy
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Today is Purple Day, a day to wear and share all things purple to raise awareness of epilepsy! 💜💜💜 Epilepsy is a condition that causes repeat seizures, and affects over 50 million people worldwide. Did you know that epilepsy can have a genetic cause? Identifying the genetic cause of epilepsy can provide a unifying diagnosis for a person's symptoms, inform their best possible medical management recommendations, and allow them to connect with communities with the same diagnosis. 👉 To learn more about the genetic basis of epilepsy and genetic testing options, connect with a genetic counselor by visiting https://lnkd.in/gFQETeX! 👉 To get involved in raising awareness of epilepsy, visit www.purpleday.org! #PurpleDay #WearPurple #Epilepsy #EpilepsyAwareness
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Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II "Although more than 1700 genetic disorders associated with intellectual disability have been described, 37 recommendations were identified for a relatively small number of conditions, with two-thirds of the identified documents addressing only seven conditions (tuberous sclerosis complex, neurofibromatosis type 1, Rett syndrome, Prader-Willi syndrome, 22q11.2 deletion syndrome, Angelman syndrome, and Dravet syndrome), which are relatively frequent among rare conditions." Individually rare, collectively common #RareDiseases #CNvs Kimberley Kendall https://lnkd.in/eEP7PjCE
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Today is all about Synaptic ras GTPase-activating protein 1 (SYNGAP1). This gene is integral for cognition and synapse function. But alterations in SYNGAP1 can lead to epilepsy, usually beginning during infancy and early childhood. Eyelid myoclonia, absence seizures, myoclonic-atonic seizures, myoclonic seizures, and photosensitivity are common symptoms. From mild to severe intellectual disability, and Autism Spectrum Disorder (ASD), to low muscle tone, and a myriad of sleep, behaviour, and eating issues, SYNGAP1 gene alterations cast a wide net of challenges. Diagnosis is possible through genetic testing. For further information, please visit www.syngapaustralia.org or contact the National Epilepsy Support Service on 1300 761 487 or support@epilepsysmart.org.au Face-to-face meetings are by appointment only. Share this Epi-Insight card to help raise awareness of SYNGAP1 and epilepsy. #EpilepsyFoundation #Epilepsy #SYNGAP1 # InternationalSYNGAP1AwarenessDay #EpilepsySupport #EpilepsyAwareness
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Article | Scientists find a likely cause of many unexplained cases of intellectual disability: A genetic disorder. Read more at this link (https://lnkd.in/gyfvYSwk). #healthnews #geneticdisorder #intellectualdisability #scientists #research #disabilityawareness #medicalresearch
Scientists find a likely cause of many unexplained cases of intellectual disability: A genetic disorder
nbcnews.com
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The Spotlight on APOE4: Emerging & Compelling Evidence on the Genetic Aspects of Alzheimer’s A new study in Nature concludes that APOE4 homozygotes represent a genetic form of Alzheimer’s Disease, suggesting the need for individualized prevention strategies, clinical trials, and treatments. Researchers postulate that modulating the expression of these genes through lifestyle interventions and targeted therapies may delay aging and promote a state of extended health span. Clinicians are beginning to use these genes as potential biomarkers to assess individual health and longevity trajectories. Some longevity clinics are incorporating lifestyle adjustments and pharmaceutical interventions to optimize the expression of these genes in their clients to enhance overall health and potentially extend lifespan. However, as highlighted in a 2022 paper, a universally reliable biomarker for predicting overall health status and longevity remains elusive. I wrote a detailed story about five well-documented longevity genes in a story titled The Expression / Mutation Impacts of the Longevity Genes Klotho, FOXO3, SIRT1, APOE, BRCA. As the title suggests, one of these longevity-associated genes is APOE. Ironically, a specific variant of this gene, APOE4, is strongly linked to an increased risk of Alzheimer’s disease, a condition that can significantly shorten lifespan. Our genes serve as blueprints for our bodies' development and function. APOE (apolipoprotein E) is nestled within this intricate genetic code. This gene plays a seemingly mundane role in encoding a protein involved in cholesterol transport within the bloodstream. However, a specific variation within the APOE gene has implications for our susceptibility to Alzheimer’s disease, which I will explain in this story. Alzheimer’s disease, a devastating dementia (neurodegenerative disorder) affecting millions globally, is characterized by progressive memory loss and cognitive decline. While its clinical manifestations are well-recognized, the underlying causes of this complex disease remain incompletely understood. However, researchers have identified a critical genetic component that might contribute to Alzheimer’s disease risk. In this post, my goal is to summarize a recent study published in Nature that provides insights into the role of the APOE4 allele in Alzheimer’s disease. Following this summary, I will offer an interpretation of the findings, drawing upon my extensive experience reviewing research on this gene. I pay specific attention to neuroinflammation, which appears to be a critical risk factor for neurodegenerative and mental health disorders. You can read the full article via my friend link on Medium https://lnkd.in/gfHiaYNK
The Spotlight on APOE4: Emerging & Compelling Evidence on the Genetic Aspects of Alzheimer’s
medium.com
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Professor of Epilepsy Genetics & Head of Dept. of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia / University of Southern Denmark I Epilepsy I Genetics I Precision Medicine
Rare disease day is tomorrow 🦓 - a day dedicated to raise awareness for patients, families and carers around the world that are affected by rare diseases ❗ Pathogenic variants in #KCNA2, encoding the voltage-gated potassium channel Kv1.2, have been associated with spectrum of neurological disorders. Affected individuals may present with early-onset epilepsy, developmental delay, intellectual disability, hereditary spastic paraplegia, chronic or episodic ataxia. Want to learn more about #KCNA2-related disorders? Check out this insightful video from the KCNA2 Foundation 👇 #Epilepsy 💜 #Genetics #EpilepsyAwareness #RareDiseaseDay2024 🦓 Nancy Musarra Steffen Syrbe Epilepsy Sparks Anne Forsingdal Højte Hansen Maja Stjerne Hansen Rebekka Staal Dahl https://lnkd.in/dXAeX7FR
KCNA2 Epilepsy I Understanding this Rare Gene Disorder
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Labcorp’s recently enhanced Reveal® SNP Microarray Pediatric provides a high-resolution, genome-wide analysis to identify copy number and copy neutral abnormalities, giving you deep diagnostic insights. Learn more about Reveal and other tools that can help you navigate the genetic labyrinth of #autism: #AutismAwareness
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Incorporation of a detailed fetal anomaly scan into the first-trimester screening can improve the detection rates for Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13), the two most common genetic disorders. Latest #Voluson developments can support with the visualization of tiny details and subtle changes to give more confidence to your diagnosis. #RIC6-12 #GEHealthCare #TrisomyAwarenessMonth #YouSetTheLimits
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