Academy of Clinical and Dental Genetics (Online) ’s Post

🩸 Do you know what Pyruvate Kinase Deficiency (PKD) is? 🩸 This rare genetic disorder can have serious implications for red blood cells, leading to various health challenges. If you’re in the healthcare field or simply curious about rare blood disorders, this quick tutorial is a must-read. Learn about the critical role of pyruvate kinase, the impact of PKD on the body, and why accurate diagnosis is so crucial. If you find this helpful, you can learn more by enrolling in our Blood Cell Morphology course. Full-colour textbook | Over 6 hours of video lectures | Assessments and CPD certificates | Free global shipping | 25% off Enrol today 👉 https://bit.ly/3PR4md5 #Hematology #MedicalEducation #RareDiseases #Healthcare #BloodDisorders #PKD #Genetics

Today is National Sickle Cell Day! Let's take a moment to raise awareness about sickle cell disease, a genetic condition affecting millions worldwide. This day is dedicated to increasing understanding, support, and action to improve the lives of those living with this challenging condition. Learn how Boule products support anemia investigations; https://lnkd.in/dTJ6Wm4S  #worldsicklecellday #anemia #hematology

Interested in hearing about the journey behind ThinkGenetic Inc.'s mission to accelerate rare disease diagnosis? Tune in to this recent audio interview with Kristina Inman on the Grey Genetics Patient Stories Podcast as she speaks with our founder, Dave Jacob. 🔗 Link to the audio interview: https://loom.ly/KvytP3g In this insightful conversation, Dave delves into his late diagnosis of Cutis Laxa, a rare genetic disorder, and the pivotal moments that inspired him to create ThinkGenetic. From navigating his health challenges to witnessing his sister's journey, Dave's experience underscores the urgency and importance of efficient and accurate diagnosis for all rare disease patients worldwide. Fueled by a passion for innovation and a commitment to making a difference, Dave teamed up with his daughter, Dawn Laney, a renowned genetic counselor, and Len Barker, to establish ThinkGenetic, Inc. with a mission to combine clinical expertise and technology to accelerate the detection of at-risk patients for evaluation, testing, treatment, and clinical trials for rare diseases. You'll also gain firsthand insights into the core driver of ThinkGenetic's work and the relentless pursuit of a world where rare disease diagnosis is swift and precise. #RareDisease #ThinkGenetic #DiagnosisMatters #PatientEmpowerment #Innovation #HealthcareRevolution

When to Refer Patients with Suspected Limb-Girdle Muscular Dystrophy (LGMD) to a Clinical Geneticist? If you see a patient with progressive muscle weakness, especially in the shoulders or hips, think about Limb-Girdle Muscular Dystrophy (LGMD). Here’s when to refer: Unexplained Weakness: Struggling with stairs, lifting, or walking. Family History: Relatives with similar symptoms or diagnosed muscle disorders. High CK Levels: Persistent elevation without a clear cause. Other Signs: Calf hypertrophy, toe-walking, or scapular winging. If you refer the patient to a clinical geneticist as early as possible, they can confirm the diagnosis, guide treatment, and help the family understand their options, including reproductive genetic options such as preimplantation genetic testing and prenatal diagnosis. #Genetics #LGMD #PGT #Prenatal #Clinical

🔬 Male infertility affects 7% of men globally, with 60-70% of all cases undiagnosed – a frustrating challenge for both patients and healthcare providers. The diagnostic yield has remained unchanged over years, despite an ongoing surge in knowledge about genetic causes of male infertility. In the past decade, novel sequencing technologies have finally started to shed light on the damaging effect of variants in hundreds of genes involved in male infertility. Dineke Westra | Manon Oud | Nicole de Leeuw | Dominique Smeets | Liliana Ramos | Godfried van der Heijden | Raoul Timmermans | Maartje van de Vorst | Tom Hofste | Marlies Kempers | Marijn Fijke Stokman | Kathleen DHauwers | Brigitte HW Faas #infertility #genes #research

New research in Circulation: Genomic and Precision Medicine adds to the evidence base about the dramatic underutilization of genetic testing in cardiology. Invitae, a member of CGTA, co-authored the study as part of a collaborative investigation utilizing a claims database. Out of nearly 300,000 patients with cardiomyopathy, only about 1% received genetic testing. The study also reported that in a separate cardiomyopathy cohort with genetic testing billed to a payer in the same claims database, a molecular diagnosis was identified in nearly 20%, a result that had the potential to inform clinical management in over 90% of those patients. Read more here: https://lnkd.in/ew-FEGRf

Our latest blog explores how the data provided by #MITOMAP can significantly aid researchers, clinicians, and genetic counselors in analyzing mitochondrial variants, improving diagnosis, and advancing personalized medicine. Read more here: https://bit.ly/3AR5loP #VariantAnalysis #NGS #PrecisionMedicine

MITOMAP is an indispensable tool for mitochondrial variant analysis, offering a wealth of data on mtDNA variants, and you can find this resource curated for your use within VarSeq! #bioinformatics #support #VarSeq #genomics #genetics #enablingpersonalizedmedicine #annotations #analysis #variantanalysis

"#TTN Truncating Variants Are Enriched in #Cardiomyopathy/#Arrhythmia and #Neuromuscular Cases and M-Band Exon 358 Contributes to Primary #Cardiomyopathy/#Arrhythmia" Matteo Vatta Invitae ACMG - American College of Medical Genetics and Genomics #ACMGMtg24 - Retrospective study of 49,740 #cardiomyopathy/#arrhythmia #patients & 24,514 #neuromuscular #patients w/ a multigene #genetictesting panel. - Supports high PSI as indicator for pathogenicity...leading to variant reclassification and a clinically significant genetic result for about 39% of the C/A and NM cases with TTNtv. https://lnkd.in/gAR4gHAV #access #reducedisparities #germlinetesting #bigdata #precisioninterpretation #precisiondiagnosis #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention

By when, to whom, and how will you communicate change? Here are the key points: - There are no clear rules on how often genetic testing companies should review their results and update patients. - Labs struggle to find a balance between keeping patients informed and bombarding them with unnecessary updates. - Labs and doctors share responsibility for communicating with patients, but it can be difficult for doctors to track down patients, especially if they move or change doctors. - Some experts believe that the current system is unfair because it places more responsibility on patients who may not have the resources or knowledge to advocate for themselves. #Reanalysis #variant_reclassification #genetic_diagnosis #3billion https://lnkd.in/gu_bFTeF