Rady Children's Institute for Genomic Medicine

We’re honored to be among the inaugural recipients of the Amazon Web Services (AWS) IMAGINE Grant: Children’s Health Innovation Award, which recognizes forward-thinking organizations in the nonprofit healthcare sector using generative artificial intelligence (AI) and advanced cloud services to drive progress in children’s health.    #TeamRadyGenomics will put the grant funds toward building pediatric genomics large language models (LLMs) to improve the diagnosis and treatment of rare pediatric diseases.     Read more about the award: https://lnkd.in/ePGdUBN2 

🎃 Happy Halloween! 🎃    #TeamRadyGenomics celebrated spooky season by showing off our costume creativity. Swipe through to see our G-nomes, pirates, aliens, and other characters you’re sure to recognize. 

✨Meet Rylee! ✨    After a happy, healthy start over the first few months of her life, Rylee’s health began to deteriorate. By her first birthday she couldn’t move, hold a toy, or sit up.     When targeted genetic testing didn’t provide any answers, Rylee was referred for whole genome sequencing (WGS). In just six days, WGS identified the genetic variations responsible for her symptoms.    👉 Swipe to learn more about Rylee’s testing and treatment, and to see how she’s doing today.  

📣#TeamRadyGenomics is growing! We’re looking for a Contracts Specialist to draft, review, and gain the necessary approvals for execution of contracts with a range of suppliers. This hybrid position is dynamic and diverse and supports our work to advance pediatric healthcare through innovative genomic research.     Learn more and apply here: 🔎 https://lnkd.in/eBncUMUf     #hiring #jobs #genomics 

🎉Exciting News! 🎉    We’re welcoming a familiar face back to #TeamRadyGenomics as Dr. Kristen Wigby returns to assume the role of Associate Medical Director.    “We are absolutely delighted to welcome Dr. Wigby back to RCIGM,” said our President & CEO Dr. Stephen Kingsmore. “We’ve missed her and appreciate her expertise in genomic medicine and rare disorders.”    Please join us in welcoming Dr. Wigby back to our team!  

On October 28-30, #TeamRadyGenomics will be attending the Children's Hospitals Neonatal Consortium (CHNC) Annual Symposium, a conference that showcases the group’s vital work and offers valuable educational opportunities to further the CHNC mission.     CHNC is dedicated to enhancing the care and outcomes for infants in Children's Hospital NICUs by sharing data, fostering benchmarking ideas, and advancing research. 🔬🧬     We look forward to engaging with fellow innovators and thought leaders in this critical field! Reach out to Cheyenne Camp, Valerie Kundis-Chalhoub, or Lisa Mullen Salz, MS, LCGC to schedule a meetup.    Event info: https://lnkd.in/gNZ3pQts 

🌍 We had an incredible turnout at the #BeginNGS workshop in Boston, with 45 attendees joining us in person or virtually, and were excited to welcome representatives from Brazil and Catalonia! 🎉 Our very own Rebecca Reimers made a significant impact during the Condition Nomination panel and in the Cost Effectiveness working group, along with rare disease parent, Luke Rosen, a founder of KIF1A.org.    We also had the opportunity to hear from parents Ada Lio and Nathan Guo who shared their story about their daughter and their ZTTK SON-Shine Foundation in a panel moderated by Alexion’s Wendy Erler. Thanks to Tom Defay from Alexion, Alex Burdenko from Google, and Chris Kunard from Illumina for participating in a panel, too.   A big thank you to Alexion Pharmaceuticals, Inc. for hosting and to everyone involved for productive collaboration across borders. This global effort is a major step forward in advancing newborn genomic screening!    #Genomics #PrecisionMedicine 

Tomorrow afternoon at the APHL - Association of Public Health Laboratories Newborn Screening Symposium, our Liana Protopsaltis, MS, CGC leads a platform presentation on advancements in screening technologies and how they’ve improved health outcomes for newborns. Make your way to the South Ballroom for this cutting-edge session.    Explore the symposium programming here: https://lnkd.in/dbe2pP5  

🚨 Final call! Join us on Wednesday for our #RapidPrecisionMedicine Grand Rounds with President & CEO Dr. Stephen Kingsmore. He’ll unveil the cutting-edge #BeginNGS platform, designed to transform newborn genomic screening and care. 🌍🧬     This session is free for #healthcare providers, researchers, medical students, and the global #genomics community. Don’t miss out on this opportunity to explore the future of #PrecisionMedicine.     Last chance to register! 👉 https://lnkd.in/gTMr9QA2 

The BeginNGS research program is moving into its 3rd phase. Join the next Grand Rounds from Stephen Kingsmore to hear how it is advancing.