gMendel’s Post

What if your genetic trait could silently increase your risk of blood clots? These are some surprising findings… New research reveals that sickle cell trait, prevalent across various ancestries, significantly raises the risk of blood clots. The study found that this risk is consistent among diverse populations, including those not usually linked to sickle cell disease. These insights are crucial for updating clinical guidelines and improving risk management strategies for those with sickle cell trait. #SickleCellDisease #Health #BloodClots

This #FamilySafetyWeek, take the initiative to prioritize your family's health. Carrier screening can provide valuable insights into genetic risks, allowing families to make informed decisions about their health and future. Learn more: https://bit.ly/3sB0QYz

Despite the tremendous success #NewbornScreening (NBS) has had, there remain gaps in the system leaving diagnosable #RareDiseases unaddressed. We can address the limitations of NBS and support stronger infant health outcomes. This will require political leadership to supplement newborn screening with #GeneticTesting. Today, we have the scientific capability to identify one of the numerous defective genes, enabling the prompt diagnosis of infants. It's unreasonable that we leave patients with rare diseases undiagnosed because we’re not supporting genetic testing for those diseases.    Read about the life-saving potential of NBS: https://lnkd.in/g_qEp8mW 

📢 It's Cavernoma Awareness Month 🙂 Let's Raise Awareness Together #HopeForACure - Research is on going. Never give up. What is a cavernoma? A cavernoma is made up of abnormal blood vessels and can be found in the brain and/or spinal cord. At least 1 in 400,000 people are diagnosed with a symptomatic cavernoma each year. The genetic form is recognised as a rare disease. #CavernomaAwarenessMonth #CavernomaIreland #Cavernoma #Angioma #Cavernous #CavernousMalformation #CCM #FCCM #SCCM #SpinalCavernoma #CaverNoMore2030 #BecauseBrainsShouldntBleed #CavernomaAwareness

A human disease network is a graphical representation that illustrates the interconnectedness of diseases based on shared biological or genetic factors. In this network:  * Nodes: Represent individual diseases.  * Edges: Connect diseases that share common biological features, such as:Gene associations: Diseases linked by genes that are implicated in both conditions.  * Protein interactions: Diseases associated with proteins that interact with each other. * Pathway involvement: Diseases related to common biological pathways. Why Study Human Disease Networks? * Disease Classification: Helps to identify groups of diseases with similar underlying mechanisms.  * Drug Discovery: Can assist in finding new drug targets by identifying common biological pathways involved in multiple diseases. Disease Prediction: Can predict the likelihood of developing certain diseases based on existing conditions. * Understanding Disease Evolution: Provides insights into how diseases may evolve over time. Types of Human Disease Networks * Gene-based networks: Focus on the genetic relationships between diseases.  * Protein-based networks: Emphasize the interactions between proteins involved in different diseases.  * Pathway-based networks: Highlight the shared biological pathways implicated in various diseases.    In clinical work we integrate those aspects to investigate root causes of illness. #functionalmedicine #guthealth #digestivesupport #leakygut #IBS #personalizedhealthcare #gutmicrobiome #gutinflammation #digestivehealth #functionaldoctor #holistichealth #integrativemedicine #naturalhealing #wellness #hormonehealth #brainhealth #chronicillness #mentalhealth #womenshealth #menshealth #precisionmedicine #futureofmedicine #functionalmedicinepractitioner #functionalmedicineclinic #functionalmedicinespecialist #functionalmedicinecoach #depression #anxiety #chronicfatigue #fibromyalgia #moldtoxicity #moldandmentalhealth

From shedding light on the rare inherited metabolic disorders, Lysosomal Storage Disorders (LSDs), to outlining the most common LSD prevalent in India, this post explains symptoms, diagnostic methods, and crucial preventive measures. At Vgenomics, our team is dedicated to unraveling the complexities of LSDs, employing cutting-edge tools and knowledge. Our commitment to genetic counseling, innovative testing methods, and early intervention underscores our mission to shape a healthier future. This is the start of a series of posts I will do on awareness of rare diseases. If you want me to cover a specific disease, please comment below. #vgenomics #rarediseaseawareness #rarediseaseresearch #rarediseases #genetictesting #newbornscreening #geneticdisorders #ordi

Unlocking the Genetic Keys to Autoimmune Diseases At Vitruvion, we're dedicated to deepening the understanding of how genetics can influence health outcomes, particularly in the realm of autoimmune diseases. With advances in genomic technology, we can now identify specific genetic markers that predispose individuals to various autoimmune conditions, offering unprecedented insights into prevention and management. Why Focus on Autoimmune Diseases? Early Detection: Genomic insights can help predict susceptibility to autoimmune diseases before symptoms manifest, allowing for proactive management strategies. Personalized Treatment Plans: Understanding genetic predispositions enables health professionals to tailor treatments that are more likely to be effective for individual patients, reducing trial and error in medication and therapy choices. Preventive Strategies: By knowing genetic risk factors, individuals can make lifestyle and environmental changes that may decrease the likelihood of disease activation or progression. Embrace the potential of genomics to transform the approach to autoimmune diseases. Stay informed with Vitruvion as we explore how these insights can be integrated into clinical practice to improve patient care and outcomes. #AutoimmuneAwareness #GenomicInsights #PersonalizedMedicine #Vitruvion

February 29, 2024 In this day each year, we celebrate the International Rare Disease Day. A disease is defined as rare when it affects less than 5 people in 10,000. To date, more than 6,000 rare diseases have been identified, most of them caused by one or more genetic mutations. Alternating Hemiplegia of Childhood (AHC), RDP, CAPOS and other ATP1A3-related conditions are neurological complex diseases that affect less than one in a million people. Their primary cause consists of distinct groups of mutations in the same ATP1A3 gene, which regulates the energy levels in neuronal cells. With all other rare patients, people with ATP1A3-related diseases share the difficulties in obtaining a correct and early diagnosis, in having access to adequate health care, in achieving a satisfactory level of autonomy and social inclusion. Further problems are caused by the lack of funds for research and for the development of specific treatments. Join people affected by the ATP1A3-related diseases and all rare patients around the world on this day dedicated to them, and support their actions in defense of their rights to an equal health and social care. Thank you! #AhcRareDisease #Atp1a3RareDiseases #RareDiseaseDay #RareDiseases #AhcAwareness #IahcrcConsortium #IahcrcStudy #IahcrcCloudPlatform

Genetic testing for pulmonary diseases can identify inherited conditions like cystic fibrosis and primary ciliary dyskinesia early, allowing for timely intervention and improved long-term lung health. Early detection enables effective treatment and access to experimental therapies. https://bit.ly/3Vimaku #GeneticTesting #PulmonaryHealth #LungDisease

Did you know that 90% of neuromuscular diseases (NMDs) are considered rare? They affect fewer than 1 in 20,000 individuals. Within each type of neuromuscular disease are multiple subtypes defined by the genetic mutations that caused them. Most types are considered ultra-rare, affecting fewer than 1 in 50,000 individuals. Join us in raising awareness and showing support for those living with rare diseases. Let's stand in solidarity and advocate for better understanding, treatment options, and research advancements. Learn more at mdaquest.org or mda.org. #NeuromuscularDisease #NMDs #RareDiseaseDay #RareDiseaseAwarenessDay #RareDiseaseAwareness #ShowYourStripes #CareForRare #HopeForRare #RareDiseaseWarrior #RareDiseaseCommunity