Rady Children's Institute for Genomic Medicine

#GenomicsFrontiers24 has concluded with a bang! Here's our final recap of this incredible event:    🌴 Our final session began with a presentation by Diana Azzam, PhD, from Florida International University, on the application of functional #precisionmedicine to pediatric cancers. We learned how major technological improvements and expanded #cancer pharmacopeia enable the integration of #genomics with functional drug testing as clinical decision-support tools, impacting patient care.    🌴 Megan Paul from UC San Diego, and Lukas Chavez, from Rady Children's Hospital-San Diego, RCIGM, and UCSD, delivered insightful presentations on using molecular profiling to unveil novel treatments for pediatric neuro-oncology patients and advancing precision medicine for children with brain tumors.    🌴 In a moving lightning talk, Philip Tan, PhD, shared his son Xavier’s courageous battle with #braincancer and advocated for harnessing pediatric neuro-oncology genomics to enhance therapeutic outcomes. Dr. Praveen Raju from UCSD and RCHSD added a lightning talk demonstrating how genomic analysis of recurrent pediatric tumors can aid clinical decision-making.    🌴 To end our conference, the afternoon presenters participated in a panel discussion on the challenges and opportunities of genomic medicine in pediatric neuro-oncology.    Thank you to all who attended in person and virtually! We hope to see you again at #GenomicsFrontiers25 next year during the week of April 28! 

What a captivating start to Day 2 at #GenomicsFrontiers24!    🐚 Our Clinical Laboratory Director Lucia Guidugli, Ph.D., FACMG, and Clinical Molecular Geneticist Jennifer Schleit PhD FACMG, began the morning with insights on identifying trinucleotide repeat expansions in DMPK using #rapidWholeGenomeSequencing (rWGS).    🐚 A lightning talk with Whitney Thompson M.D. M.Phil and Eric Klee from Mayo Clinic showcased clever acronyms while discussing challenges and opportunities in clinical urWGS #diagnostics and #therapeutics, and the exciting potential of integrating translational research into urWGS programs.    🐚 Matthew Bainbridge, our Associate Director of Clinical Genomics Research, delivered an enlightening talk on DNA methylation, imprinting, and long-read sequencing, exploring novel approaches to identifying new imprinted regions.    🐚 Dr. Gail Knight, SVP & Chief Medical Officer from Rady Children's Hospital-San Diego, shared moving stories from her upbringing and highlighted how #rWGS has touched her personally and has influenced RCHSD’s use of #genomics in the NICU and PICU.    🐚 We wrapped up the morning with a clinical panel discussion featuring Paige Hazelton from Mayo Clinic, Joseph Fakhoury from Bronson Children's Hospital, Sabrina Jenkins, MD, from University of Utah Health, and Kristen Suhrie from Riley Children's Health, sharing their experiences in the NICU.    Stay tuned for a recap of our afternoon sessions! 

That’s a wrap on Day 1 at #GenomicsFrontiers24!     ☀️ Our afternoon session began with a keynote from Rob Knight, from Rady Children's Hospital-San Diego and UC San Diego, diving into the world of #microbiomes and their profound impact on our bodies.      ☀️ Aaron Besterman, Assistant Professor of Psychiatry at UCSD, presented on the current state of #mentalhealth in today’s youth and how #genomics informs an integrated approach to pediatric precision mental health.       ☀️ Back-to-back lightning talks with Jennifer Yang from UCSD, RCIGM and RCHSD, and Jonathan Santoro, MD, from Children's Hospital Los Angeles (CHLA), explored mitochondrial disorders and genetic mimickers of neuroinflammatory disorders, and neuroinflammation in down syndrome regression disorder.      ☀️ To conclude, our afternoon presenters led an engaging Q&A clinical panel discussion on practical applications and research advancements in behavioral health.      See you tomorrow for more exciting discussions! 

#GenomicsFrontiers24 is off to a surging start!    🌊 Our President & CEO Dr. Stephen Kingsmore kicked off the morning with a compelling keynote on how genome sequencing-based #newbornscreening has the potential to improve outcomes for hundreds of severe single locus disorders with early childhood onset and effective treatments by early identification and intervention.    🌊 Two insightful lightning talks from Meredith Wright, Ph.D. and Rebecca Reimers emphasized the potential of diverse population databases in scaling whole genome newborn sequencing and provided an update on #BeginNGS.    🌊 An expert panel discussion featuring Terri Finkel, MD, PhD, from The University of Tennessee Health Science Center, Thomas May, PhD, from WSU Elson S. Floyd College of Medicine, and Jessie Conta, MS, from PLUGS (Patient-centered Laboratory Utilization Guidance Services) discussed scaling challenges and innovation opportunities in genomic medicine.    🌊 Our morning ended with a touching and hopeful family panel discussion, during which Katy Cairo and Michaelle Jinnette, MA, LMFT, shared their personal experiences of being mothers to children with genetic diseases. Their stories impacted every member of the audience and reminded us all of why our work can help end the diagnostic odyssey for families.    We can’t wait to see what the afternoon session has in store! 

Coming to #GenomicsFrontiers24? Join us at Thursday's sponsored talk, “Examining the Patient With X-Linked Hypophosphatemia: Diagnostic and Management Needs” presented by Eric T. Rush, MD, from Children’s Mercy Hospital and the University of Missouri−Kansas City School of Medicine. This talk is presented by Kyowa Kirin, and is not included in the conference's continuing education program. Space is limited — RSVP here: https://lnkd.in/dDvJ4Drc

👩⚕️Calling all physicians and nurses!👨⚕️ ⬆️ Elevate your expertise at our upcoming Frontiers in Pediatric Genomic Medicine conference on May 1-2. 📚 Earn valuable CME credit from UC San Diego Continuing Professional Development or accrue up to 10.0 continuing education contact hours for nurses. The University of California San Diego School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The University of California San Diego School of Medicine designates this live activity for a maximum of 10 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 🌊 Ride the wave of pediatric genomic medicine and discover firsthand how rapid precision medicine is reshaping lives. Don't miss this opportunity to stay ahead in your field! Register for virtual attendance here: https://lnkd.in/gjdBefMc #GenomicsFrontiers24 #CME #pediatrics #WholeGenomeSequencing #genomics #raredisease

GeneGnome has appeared with #TeamRadyGenomics at World Orphan Drug Congress USA. Please reach out to Jessica Merritt and Cheyenne Camp to chat about #genomics, #BeginNGS, #newbornsequencing, or #collaboration. #WODC24 #GeneGnomeOnTheGo

Last week, we celebrated #LabWeek with fun and camaraderie. Each day was themed, but Barbie Day - complete with a bowling night for some friendly competition - was by far the highlight of the week. We thank all our lab professionals for their hard work, dedication, and the incredible impact they make every day. Here's to our fantastic team and all the wonderful memories we created together during Lab Week! #TeamRadyGenomics

Exciting news! The deadline for registration for in-person attendance at #GenomicsFrontiers24 has been extended to April 26. Experience networking opportunities, captivating keynote presentations, engaging lightning talks, and enlightening family panels in San Diego on May 1-2. https://lnkd.in/dQ_BBAyz #WholeGenomeSequencing #genomics #raredisease

Join #TeamRadyGenomics at #SCGC24 in the City of Industry, CA on May 3. RCIGM Research Program Manager Liana Protopsaltis, MS, CGC and Certified Genetic Counselor Brandan Schultz will present, “An Overview of the Newborn Genomic Screening Landscape and The #BeginNGS Perspective.” More info: https://lnkd.in/gvkEEbpB Southern California Genetic Counselors #WholeGenomeSequencing #NewbornScreening #genomics #raredisease