Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), refers to a group of rare, inherited neurological disorders that primarily affect children. There are 13 different types of Batten disease, classified based on the age of onset and the genetic mutation involved. These include infantile, late infantile, juvenile, and adult-onset forms. Due to their rarity and often complex symptoms, rare diseases can be challenging to diagnose. Misdiagnosis or delayed diagnosis is common, leading to difficulties in accessing appropriate treatment and support. Treatment options for rare diseases are often limited, and in many cases, there may be no approved therapies available. This can be due to a lack of understanding of the underlying mechanisms of the disease, as well as challenges in conducting clinical trials for rare conditions. #RareDiseaseDay #ShowYourRare #Awareness #Support #RareDiseaseAwareness #battendisease #battendiseaseawareness

CASE STUDY: Jaswinder is a 25-year-old female of north Indian background with no family history of gastrointestinal disorders. She presents with three years of abdominal cramps, bloating, diarrhea and increased fatigue. Refer to this Evolve Case Study for why it is not recommended to conduct genetics testing as a screening test for suspected coeliac disease patients. FIND OUT MORE: Go to the Evolve website and explore the resources: https://evolve.edu.au/ #RACPEvolve #GSA #ChoosingWisely

An improved understanding of the evidence of genetics in cardiovascular disease will offer clinicians new opportunities for individualised risk prediction and preventive therapy https://ow.ly/CZPk50RkM6q

🎉 On World Parkinson's Day, let's raise awareness about Parkinson's disease—a neurodegenerative disorder affecting movement, with both genetic and environmental factors playing a role.   #HEREDITARYproject aims to help healthcare by integrating diverse health data, including genetics, in a secure framework. This project seeks to understand diseases better and develop more effective diagnosis and treatment strategies, focusing on neurodegenerative disorders 🧠   Together, let's shine a light on Parkinson and the quest for better understanding and treatment. #ParkinsonAwareness #WorldParkinsonsDay

🤗 Sharing Volume 3, Issue 2--- article collection from Ageing and Neurodegenerative Diseases Journal. There are six articles on #neurodegenerativedisorders. Welcome to read and share! The cover article 'The role of the tubular endoplasmic reticulum in the axonal degeneration associated with neurodegenerative disorders' from our Editor-in-Chief Prof. Weidong Le. #PD #AD #ALS #MS #Alphasynuclein #brainresearch #aging 🌷 Click the link and read more: https://lnkd.in/ghyFXCbH

Surprising Discovery: Key Molecule Linked to Neurodegenerative Diseases Found in Healthy Brain Tissue https://lnkd.in/dddThW4n #VirginiaTechDiscovery #MoleculeFunction #BrainHealth #NeurodegenerativeDiseases #Microvasculature #BloodBrainBarrier #therapeutictargets

It's crucial to include more Black participants in Alzheimer's disease clinical trials to fully evaluate how individuals with potentially heightened genetic risk factors react to treatments. Learn more about how we are working to increase diversity in clinical trials: https://bit.ly/3GC6Wht #AlzheimersDisease #clinicaltrials

'Researchers at MIT are thinking outside the box with a new long Covid, chronic Lyme disease study. Dr. Mikki Tal is heading the MIT MAESTRO research study1 which is looking into potential sex differences, predictive diagnostics and immunological, neurological and other mechanisms of chronic illness.' #longcovid #chroniclyme #ticks #biofilms #diagnostics #lymedisease #tickbornediseases #infectiousdisease #lymedisease #lyme #ticks #borrelia #babesia #bartonella https://lnkd.in/emjR-sT5

Challenges in Curing Blood disorders _ ITP _ Aplastic Anemia _ Blood Cancers _ Dr Karuna Kumar The realm of blood disorders, encompassing a diverse spectrum of conditions from anemias to leukemias, presents a profound and often intricate challenge in the field of medicine. These disorders affect the very essence of our circulatory system, impacting the lives of millions worldwide. In this exploration, we will venture into the multifaceted challenges surrounding the diagnosis, treatment, and cure of blood disorders. From genetic predispositions to elusive causes, and from evolving treatment strategies to the ongoing quest for definitive cures, this journey seeks to unravel the complexities of these conditions and the determined efforts of healthcare professionals and researchers working towards a future free from the burdens of blood disorders. Join us as we delve into the ongoing narrative of hope and determination, in the face of the challenges posed by these medical conditions. . . . . #BloodDisorderAwareness #HematologyInsights #MedicalChallenges #CirculatorySystemHealth #BloodDisorderJourney #HealthcareResearch #GeneticHealth #TreatmentStrategies #DefeatBloodDisorders #BurdensOfIllness