Genetics Education Canada: Knowledge Organization’s Post

Systematic re-evaluation and re-classification of variants of uncertain significance from the Simons Searchlight research registry improve diagnostic yields of genetic neurodevelopmental conditions https://bit.ly/4am7Qen

We are working on new individual rehabilitation paths related to #Hypophosphatemia. Below there is a descriptive article published on AboutPharma https://lnkd.in/dgXnSgdr

X-linked hypophosphatemia (XLH) is a rare genetic disease that can cause rickets and significant skeletal deformities. A study carryed out in the BTS GAITLAB at the NLAB Research Center highlights the importance of investigating the aspects related to the movement of these patients, in order to create a personalized rehabilitation program. Go to the blog post: https://lnkd.in/dUMv4Bd9 #btsbioengineering

Unlocking the Secrets to Longevity: Exploring Genetic Clinical Pearls in a Transformative Webinar - REGISTER HERE: https://lnkd.in/e_6Jzk9i Date: February 28, 2024 - Time: 8pm EST / 7pm CST / 5pm PST (60 minutes) You're invited to join our next webinar on "Preserving Longevity Using Genetic Clinical Pearls" featuring Dr. Sharon Hausman-Cohen, Owner & Co-Founder of Resilient Health and Chief Medical Officer of IntellxDNA. In this thought-provoking session, Dr. Hausman-Cohen will delve into the intricate world of genes and metabolic pathways associated with longevity. Highlights include: - Discover crucial genetic risk factors affecting longevity - - Gain insights into actionable steps to address these factors Enhance both lifespan and healthspan for your patients - And more! Dr. Sharon Hausman-Cohen is a renowned expert in the field, bringing a wealth of knowledge and experience to guide you through the latest advancements in preserving longevity. Don't miss this opportunity to learn from a leading figure in genetic medicine. #SecretsToLongevity #AMMG #AgeManagementMedicine #CMEEducation #ContinuingMedicalEducation #CMEConferences IntellxxDNA®

Why Rare disease research matters and is so critical: Discovering the gene involved in a rare disease and its function can shed light on the function of other gene products that interact with it. In this way, the research outcomes carry more significance than just experimental data. They contribute to improving lives.

Check out my new preprint with Benjamin Werner "On the patterns of genetic intra-tumour heterogeneity before and after treatment" If you have questions or comments to our manuscript, let me know! 🙂 Link: https://lnkd.in/ewjJaQ36

Brush up on the basics of familial hypercholesterolemia and share these resources with peers and colleagues. Tools and resources on diagnosis, management and genetic testing. www.geneticseducation.ca > Cardiogenomics ❤️

Desperate for answers and a solution to his health issues, Craig discovered clinical research and trials, leading him to undergo genetic testing with Invitae. This genetic test finally revealed his diagnosis of ADH1, a rare genetic condition related to hypoparathyroidism, which can cause chronically low levels of calcium in the blood and high levels of calcium in the urine. Let's bring awareness to the value of genetic testing, clinical trials, research, and accurate diagnoses for #WorldThyroidDay. 🧬🌍 #BehindTheMystery #ADH1 #ADH1Awareness #Hypoparathyroidism #RareDisease #RareDiseaseAwareness

In The FASEB Journal: New research highlights the vital contribution of Xbp1 to odontoblastic differentiation by regulating mitochondrial balance, providing insights into potential therapies for mitochondrial disorders stemming from genetic anomalies. Read more in The FASEB Journal: https://hubs.ly/Q02sKbVD0

In the second session, "Understanding Pulmonary Health and Genetic Factors", today at the European Pulmonary Fibrosis Patient Summit 2024, Dr Maria Molina Molina, CLARE HODKINSON, Moises Selma and Wendy Jones talked about the role of genetics in #pulmonaryfibrosis and the current state of research. #PFSUMMIT24