Alison Smolinski, MA’s Post

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. However, a possible contribution of DAG1 deficiency to milder muscular phenotypes has been suggested. In this study they identified seven novel heterozygous truncating variants in DAG1 segregating with isolated or pauci-symptomatic hyperCKemia in 12 individuals (4 cases inherited from similarly affected parents), supporting the pathogenic role of DAG1 haploinsufficiency in isolated or pauci-symptomatic hyperCKemia. https://lnkd.in/dEkJdcdd

Did you know that: 👉 7,000 rare diseases affect 300 million people worldwide 👉 3.5 - 5.9% of global population is affected by a rare disease 👉 72% of rare diseases are genetic 👉 1 out of 5 cancers is rare 👉 ALL paediatric cancers are rare Insufficient scientific research and lack of knowledge about rare diseases lead to mis- or late diagnosis. This greatly affects the quality of life of patients and adds burdens into many aspects, including social and financial. Our Precision CancerCare solution gives patients with rare cancers access to cutting-edge technologies supporting more precise diagnosis and tailored treatment options. Learn more: https://lnkd.in/d5qsJkev Sources: https://lnkd.in/dRxneVqG & https://lnkd.in/dtmQJP2K #precisionmedicine #healthcareinnovation #rarediseaseday2024 #genetics #genetictesting

Today, on #WorldSickleCellDay, let's shine a light on the importance of early diagnosis for sickle cell disease. Sekbio's Rapid Test Kits provide a quick, cost-effective way to diagnose this genetic disorder, leading to better outcomes. Your awareness and support can make a difference! 💉🌍 Learn more: https://lnkd.in/g__mupXv #SickleCellAwareness #HealthEquity #GeneticCounseling

February 29th is appropriately Rare Disease Day. I take this as an opportunity to salute all those stakeholders who support Rare Diseases through their actions. I also remind myself of some facts about Rare Diseases: *Rare diseases are defined as those conditions that affect fewer than 1/1200 people *More than 300 million people globally are affected by a Rare Disease. Yet, patients and families with rare diseases are one of the most underserved communities in medicine today *Despite the notion of being "common", 1 in 5 cancers are Rare * There are 7000 + documented Rare Diseases, yet for most, a cure or treatment is not available. Only 5% of rare diseases have an approved treatment * Complex testing and long clinical odysseys are common - MOST rare diseases get misdiagnosed or remain undiagnosed A call to action: 1. Promote whole genome and transcriptomics sequencing for rare diseases with access to medical genetics services. Professional organizations have taken a big step by updating practice guidelines e.g. https://lnkd.in/g7i_7r93  2. Advocate for a robust orphan drug policy with well thought out reimbursement mechanisms 3. Promote equity and access to testing and treatments globally 4. Encourage research participation 5. Educate yourselves and support advocacy groups #rarediseaseday #genomics #orphandrugs #sequencing #policy #diagnostics #diagnostictesting #wholegenomesequencing #rarediseases #rarediseaseawareness #IAmAGeneticCcounselor #technology #RareDiseaseDay #ShareYourColours #LightUpForRare #showyourrare Genialis 🦓 🦓 🦓 🦓 🦓 🦓

Thought this was quite an insightful article looking at transcription factor identification in a number of different #autoimmune diseases. By identifying #SNPs and modeling to determine alterations in binding of transcription factors to certain cell types, you can elucidate more information on the causative pathways important in understanding and hopefully therapeutically intervening in those autoimmune diseases. Some of the diseases they analyzed include #T1D, #MS and #RA. https://lnkd.in/gnbxtnxJ

Happy to share some work from my PhD :) In this preprint, we investigated the role of genes related to 52 aging-related diseases using data from the UK Biobank and a network approach. We found that genes directly associated with multiple aging-related diseases (i.e., pleiotropic genes) are often linked to immunological disorders, but do not overlap with aging-related genes. Instead, aging-related genes tend to connect with multiple aging-related diseases through indirect interactions. We then analyzed the differences between these two groups of disease-connecting genes (direct and indirect). We found a polarizing effect: genes directly connecting multiple aging-related diseases exhibit high tissue-specific expression but low coexpression with disease-related genes. Conversely, indirectly-connecting genes show low tissue-specificity but high coexpression with disease-related genes. Lastly, we used machine learning to predict potentially novel aging-related genes based on the network connections. This work paints a deeper picture of the multiple types of interactions between ageing-related processes and ageing-related diseases. 

Explore the future of cardiovascular disease research with polygenic risk scores. In this insightful webinar, our panel of experts dives into the latest advancements in predictive genomics and microarray technologies. Learn how personalized PRS reporting can enhance health management for common diseases. Watch the webinar on-demand now! #thermofisheremp

The future of personalized medicine lies in innovative technologies that integrate phenotypic and repertoire analysis at scale.

September is #sicklecellawarenessmonth Sickle cell disease refers to a group of diseases that result from an abnormal change in the gene that encodes for a part of haemoglobin. 🩸 This leads to production of abnormal red blood cells which are sickle shaped, weaker and easily break down , leading to many complications Sickle cell disease affects every part of the body, from head to toe leading to complications including but not limited to :increased risk of stroke, eye diseases, heart diseases, severe anaemia, priapism, severe bone pain etc Sickle cell disease is not a death sentence, there are new medication to manage and help ease life. Tips to prevent / manage scd - Let's practice conscious coupling ie. Knowing the sickling status of yourself and your partner, and seeking counselling on the way forward if the match is likely to lead to scd. - When diagnosed, enroll in a sickle cell clinic, attend regularly and take your medication as prescribed. - Know your body, your steady state hb etc -You're not alone! Cheers to all SCD warriors out there! _________________________________________ Thank you guide radio for the opportunity to educate the public My first radio experience 📻😊 #healtheducation #DrN2