Asklepios BioPharmaceutical, Inc. (AskBio)’s Post

Williams syndrome is rare, often flying under the radar of public awareness. But it's time to change that narrative. Only through understanding and awareness can we rally the research interest and funding needed to unravel its mysteries. This syndrome is a contiguous gene syndrome, with deleted genes lining up within a specific critical region. Two DNA tests, FISH and Microarray, can confirm its presence. The medical profile of individuals with Williams syndrome varies widely. From cardiovascular issues to kidney anomalies and gastrointestinal problems, the spectrum is broad. Regular monitoring by knowledgeable physicians is crucial, though not every individual is affected in the same way. Despite its challenges, Williams syndrome is marked by remarkable strengths. Alongside developmental delays and learning challenges, individuals often exhibit impressive verbal abilities, boundless social personalities, and a deep love for music. It's crucial to spread awareness about Williams syndrome across all cultures and communities. Regardless of gender or background, anyone can be impacted. #WilliamsSyndromeAwareness #RareDisease #SupportAndLearn #rise4rare #rarediseasediversity #raiseawareness #zebrastrong

Down syndrome patients are more susceptible to Alzheimer's disease as they age because they have an extra copy of chromosome 21. A gene associated with amyloid plaques and implicated in the development of Alzheimer's disease is located on this chromosome. This difficulty won't be experienced by every person with Down syndrome, highlighting the significance of individualized care and comprehension. Related #blogpost: "Learning from Down Syndrome: Understanding the Two-Way Connection with Alzheimer's Disease" (Link: https://lnkd.in/eSaKPEyh) More about me: 🌐 www.drdomenicopratico.com | www.pratico-lab.com 📚 https://lnkd.in/emRjtUrd 🧠 https://lnkd.in/eVT5BiS4 🐦 https://lnkd.in/eE7FF-cu 🖋️ https://lnkd.in/ez-Xs2a9 #DomenicoPratico #PraticoLab #Alzheimers #DownSyndrome #AlzheimersCare #AlzheimersAwareness #Aging #Dementia #DementiaAwareness #BrainHealth #Health #Care

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

Today is World Hemophilia Day. I thought I would celebrate by sticking around for another 96 hours. 😎 ICYMI, hemophilia is a bleeding disorder where the blood is depleted or missing one of the essential factors for clotting. Decades ago treatment was primitive, and many patients did not survive into adulthood. I'm forever grateful that, by the time I came along, treatment had become manageable, and has only improved since (with gene therapy quickly entering the picture). I've got every shot at a normal lifespan, and if this past weekend is any indication, maybe a few years after that! So why am I sharing all of this? 📖 Because I used to think that hemophilia was something I could ignore, and live in spite of. While I always stuck to my treatment regimen, I ignored every other sign wherever I could. I didn't want something that I couldn't control to define me. Now in my late 30s, I no longer try to hide it as part of who I am. From the Medic Alert bracelet, the accessible parking permit, the frequent limp and occasional pain, the stiffness and aches - it's not something that I can ignore. And I don't want to. Hemophilia itself isn't my story, but it's done so much to help craft my story. It's the reason why I'm able to connect with others dealing with a serious or chronic illness so quickly, and why I try and check in and support frequently. It's why I try to lead with understanding and compassion (even when I don't always succeed). To be candid, it's the reason I'm smiling most of the time - I'm just grateful to be here 😁. So yes, even the rocky parts are part of your story. Whether you disclose all the details is your business, but remember that they're also part of what sets you apart and makes you unique. I'll never subscribe to the 'bad things happen for a reason' theory - that's wildly unfair - but I do believe that even the tough parts make us part of who we are. Everybody's got a story. What's yours? #hemophilia #worldhemophiliaday #worldhemophiliaday2024 #chronicillness #invisibleillness #visibileillness #bleedingdisorder #storytelling #storyteller #contentwriting #contentwriter

Rett syndrome, a rare genetic condition, is caused by mutations in the MECP2 gene on the X chromosome. Symptoms include developmental regression, repetitive movements, failure to thrive, and gait abnormalities. Baylor Genetics' Neurodevelopmental Panel assesses 236 genes linked to syndromic and non-syndromic autism spectrum disorder, developmental delays, and intellectual disabilities. The panel offers insights into complex conditions, including those associated with Rett syndrome. Learn more: https://bit.ly/3Z9sZ7y Additionally, Baylor Genetics provides single-gene testing specifically for MECP2-related conditions. Learn more: https://bit.ly/44Anxfn #ThinkBG #BGreat #RettSyndrome #EpilepsyPanel

Although considered a rare disorder, #fragileX syndrome is the most common genetic cause of intellectual disability in the world. Fragile X patients can have a range of mild to severe intellectual disability with the potential for other conditions such as autism, delayed motor development, hyperactivity, behavioral problems and seizures. And while it’s well-known that fragile X is caused by the FMR1 gene, it’s less understood how the disorder physically affects brain development and function. Christopher Patzke, the John M. and Mary Jo Boler Assistant Professor of Biological Sciences, is collaborating with fragile X patients and families to study the disorder. Read more: https://bit.ly/3SACNXb Notre Dame Research #raredisease #rarediseaseresearch #notredamescience #fragilexsyndrome

Ataxia can be caused by various factors, including genetic mutations, trauma, toxins, or underlying medical conditions. Its primary symptoms are difficulty in maintaining their balance, which can lead to unsteady walking and frequent tripping. Early recognition of symptoms, prompt diagnosis, and appropriate treatment are crucial for positive outcomes. Book an Appointment to Meet our experts: Banjarahills:- 9494984747, Trimulgherry:- 9052984747, Uppal:- 9985584747 #AtaxiaAwarenessDay #AtaxiaDisease #NeurologicalDisorders #citineurocentre #neurocentre #neurohospital

Recognizing International Angelman Syndrome, a rare genetic disorder that happens one in 5,000 live births. The disorder results from the loss of function of a gene called UBE3A, which provides instructions for making the UBE3A protein that plays an important role in the development and function of the nervous system. It causes severe speech impairment, seizures, problems with balance and walking and intellectual disabilities. For more information, follow the Angelman Syndrome Foundation (Angelman Syndrome Foundation)! #InternationalAngelmanDay #AngelmanDay2024 #IAD2024 #IAD #AngelmanSyndrome #AngelmanSyndromeAwareness #DevelopmentalDisability #DabsInc

💥 Exciting news alert! Dr. Kajal Rawat and Dr. Prathiba Garlapally have published an intriguing article on "Epigenetic and non-epigenetic mechanisms in the accelerated cellular aging in late-onset Alzheimer’s disease". 🧠 Role of epigenetic and non-epigenetic mechanisms in accelerated cellular aging that are reported to increase the risk of LOAD development are summarized in this review. The underlying biological mechanism of cellular aging and the risk factors that could predispose cellular aging and LOAD development are also discussed. 📖 Don't miss out on the opportunity to read, download and quote the section that interests you. https://lnkd.in/gANG3nUD #Late-onset Alzheimer’s disease #LOAD #epigenetics #cellular #aging #immunosensecence