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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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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Epilepsy is a neurological condition characterized by recurrent and unprovoked seizures and can have different causes, including: - Genetic factors - Brain injuries - Environmental conditions - Fever Proper diagnosis and management by healthcare providers are essential for individuals with epilepsy. The Baylor Genetics Epilepsy Panel examines 397 genes linked to various epilepsy conditions such as developmental and epileptic encephalopathies, MECP2-related disorders, CDKL5 deficiency disorders, and PRRT2, SLC2A1, and SCN1A-related epilepsies. For more details and to start an order, visit: https://bit.ly/3PNkOvj #ThinkBG #BGreat #EpilepsyPanel #GeneticTesting
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Did you know that Huntington's Disease, a genetic neurodegenerative disorder, affects both motor skills and cognitive functions? Delve into the post below to discover more about this complex condition and join us in advocating for research and awareness. Request customized study: https://lnkd.in/d6q8Q-5a #HuntingtonsDisease #NeurologyResearch #marketreport #marketanalysis #wissenresearch #marketforecast #askforreport #marketinsights #patentanalysis
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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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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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As a mother or father, you want what's best for your child and their health - it's simply part of being a parent. As such, when they experience health, or developmental concerns arise, it may be suggested that genetic testing be carried out. That said, it’s only in certain circumstances that this would be a suggested course of action. This is something we look at in this article as we examine what may lead to genetic testing being suggested for your child.
Why Would a Genetic Test Be Suggested For My Child? — genetics
genetics.ie
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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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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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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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Agamree, a corticosteroid indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients 2 years of age and older. DMD is a rare genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. The onset of symptoms is in early childhood, usually between ages 2 and 3 and primarily affects boys, but in rare cases it can affect girls. Of note, the overall Grade is D and there is an F Grade for Hispanics who are at increased risk for DMD. #clinicalresearch #healthdisparities #clinicaltrials
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