Global Genomic Medicine Collaborative (GGMC)

TOMORROW Join the NASEM Health and Medicine Division Roundtable on Genomics and Precision Health, alongside the National Cancer Policy Forum, for a hybrid workshop on October 29. Titled "Examining Clinical Guidelines for the Adoption of Genomic Testing," this event will delve into how clinical guidelines shape #genomictesting in healthcare. 🔗 More details about the workshop HERE. https://lnkd.in/g3SNcqMZ 🔗 REGISTER HERE to participate online! https://lnkd.in/ervS3dRP #GenomicsRT #NatlCancerForum #Genomics #ClinicalGuidelines

Honored to attend last week’s STRIPE meeting at the U.S. Pharmacopeia campus in the DC area, where an impressive gathering of stakeholders from the FDA, AMA, and pharmacogenomics experts collaborated to advance implementation practices in PGx. It was a privilege to contribute to these critical discussions on harmonizing Clinical Decision Support—a pivotal step for the field. Unexpectedly, I was deeply honored to receive the Double Helix Award for “Excellence in Advancing Pharmacogenomics Through Collaboration.” Grateful for the recognition and inspired to continue driving meaningful progress through collaboration. Pumped from this experience, I’m energized and ready to bring this momentum to the Oracle Health Summit in the beautiful city of Nashville, TN. #Pharmacogenomics #PrecisionMedicine #ClinicalDecisionSupport #DigitalHealth STRIPE US Pharmacopeia Oracle Health

A big shoutout to every participant, and especially Dr. Lyndon J. Mitnaul for his exceptional webinar on the Together for CHANGE initiative! This initiative aims to tackle inequities in STEM careers through two key strategies: funding research, and creating a massive #genomics database! 📺 Watch the webinar in its entirety HERE: https://lnkd.in/g-pu7GZ6

Join the G2MC Family Health History group and the Centre for Molecular Biosciences and Medical Genomics (CMBMG) in Nigeria for a special Pinktober Webinar titled "Breast Cancer & Family Health History" TOMORROW, Friday, October 25, 2024, at their local time 12:00 pm WAT (11h UTC). Zoom link 👉 https://bit.ly/unimedondo.

🧬 TOMORROW 🧬 There's still time to join us for the next GGMC Educational Webinar Series feat. Dr. Lyndon J. Mitnaul of Regeneron, who will discuss the "Together for Change" initiative. Live at 9AM EST. Sign up: https://lnkd.in/gZ_xZ_Q6 #Genomics #TogetherForChange

This article, (courtesy of the University of Exeter) discusses the impact of genetic testing and diagnosis on patients with rare genetic disorders, particularly the case of Jaydi, a young girl with a rare form of dwarfism, whose life was saved by a bone marrow transplant after her genetic condition was identified through the Deciphering Developmental Disorders (DDD) study. This research is part of a massive effort to provide answers and ensure patients are given a template for improving care and support following such a genetic diagnosis. For Jaydi’s full story, and this study as a whole: https://lnkd.in/gsFU7cNJ #GenomicsUK

As a primer for Thursday's Webinar, we're highlighting Regeneron's Together for CHANGE™ (or Changing Healthcare for People of African Ancestry Through InterNational Genomics & Equity) Initiative. This initiative, in partnership with Meharry Medical College and biopharma companies like AstraZeneca and Novo Nordisk, aims to address health disparities in Black communities. It operates through: ➡️ A research and STEM education grant program for people of African ancestry. ➡️ A study focused on increasing representation in genetic research. For more... https://lnkd.in/grzDm9V2 To register for our #TogetherForChange Webinar... https://lnkd.in/gZ_xZ_Q6

In the past decade, the Clinical Genome Resource (ClinGen) has engaged the international genomics community in developing an authoritative, evidence-based resource to support genomic interpretation. The need for this work is exemplified by the increasing use of genetic testing across many diseases. This Genetics in Medicine article reviews ClinGen progress and outlines the need for future upscaling of this effort to reap the full benefits of the human genome. https://lnkd.in/gpMnXScM

A real honour to be presenting at the DNA Dialogue coordinated by Australian Genomics and a pleasure to represent Genome Canada. I will be talking about the gaps we have in equity, diversity and inclusion in #genomics and will explore paths to solve these challenges. All invited to join! You can register for the free webinar using the link below ⬇️ Hope to see many of you next week!

Super excited to share the publication of our article on the First Year Results and Insights from the Mexican Rare Disease Patient Registry today in Rare Elsevier!!! This is the graduation work of Genomics Sciences undergraduate student Cesar Aspiros analyzing the data collected through the first year of the "Registro Mexicano de Enfermedades Raras" that we launched on February 28th, 2022 through the Mexican Network for Rare Diseases #REMEXER as a way to address the need for a national registry in Mexico, but also to better understand the access needs and challenges faced by patients and families living with rare and low prevalence diseases in Mexico. We deeply thank the patients and caregivers that filled in the questionnaire and provided insights on living with #RareDiseases in our country. We also thank the patient organization leads that provided feedback on the questionnaire design and implementation early on. Through this work, important insights on the fraction of patients that actually have an accurate molecular genetic diagnosis, the cost of living with a rare disease and the impact on economy, physical, and mental health that low prevalence disorders have on patients in Mexico can start to be derived. Cannot think of a better timing for this article to come out and share the results with the Rare Diseases community in Latin America next week during the 2nd Congress on Rare and Low-Prevalence Diseases in the Caribbean and Latin America #CongresoCEPCAL #CEPCAL2024 Read the full open access article now at Rare, the flagship journal of UDNI! https://lnkd.in/grvmhHWE CEPCAL - Colaborativa para Enfermedades Poco Frecuentes en el Caribe y América Latina (CEPCAL) Laboratorio Internacional de Investigación sobre el Genoma Humano Global Genomic Medicine Collaborative (GGMC) UDNI Cebras México Mujer México Judith Escales Wendy van Zelst-Stams Jennifer MacDonald