Rady Children's Institute for Genomic Medicine’s Post

A fabulous initiative - we have something similar - "Find a Clinic" map. If you are a #geneticcounselor, #primarycare #physician, #gastroentorologist, #patient, or #previvor looking for a list of #HereditaryGICancer Programs, we invite you to review our "Find a Clinic" map here cgaigc.com/find-a-clinic Our map is your key to finding a center with the expertise to diagnose and care for individuals with #HereditaryGICancer syndromes. In addition, this map also includes programs providing #Pancreatic Surveillance for individuals at increased risk for #PancreaticCancer. If you do not see your center listed here - #CGAIGC, Latin America Grupo de Estudios de Tumores Hereditarios, #InSiGHT and European Hereditary Tumour Group members are invited to enter their clinic information here cgaigc.com/find-a-clinic Michelle Springer Bryson Katona Lauren Gima Timothy Yen Charité Ricker Lauren Giannetti Sferrazza MS, LGC Amie Blanco Yvonne Cardona, MS, LCGC Joanne M. Jeter Tara Namey Hannah Campbell

🧬 This initiative from Genomics England and the NHS is a groundbreaking step forward in newborn screening, offering the potential to significantly improve early diagnosis and treatment for rare genetic conditions. By sequencing the genomes of 100,000 newborns, this project is not only transforming how we approach healthcare in the UK but also setting a global example for innovation in genetic research. Early detection of treatable conditions can be life-changing for families, reinforcing the critical role of clinical research in advancing healthcare outcomes. At Momentum Pharma, we are excited to support the growing momentum in genomic medicine and look forward to continued collaboration with global partners to drive further advancements in this space. 📰 Read the full article here: https://lnkd.in/eiHPqyRK #GenomicMedicine #ClinicalResearch #HealthcareInnovation #MomentumPharma #NewEraCRO #NHS #RareDiseases

🌟 News for rare diseases and newborn screening enthusiasts! 🌟 📚 We are delighted to share the publication entitled "Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative" recently published in the Rare Disease and Orphan Drugs Journal, as part of the Newborn Screening special edition on "Real World Applications and Technologies". ➡ Read the publication here: https://lnkd.in/ey8MuVjr #newbornscreening #genomics #IRDiRC Rare Disease and Orphan Drugs Journal

In neonatal and pediatric intensive care units (NICU/PICU), Rapid Whole Genome Sequencing (rWGS) can play a crucial role in identifying a wide variety of genetic conditions that may cause congenital anomalies, developmental delays, and/or intellectual disability in infants and children. Our rWGS serves as a crucial tool for healthcare providers, genetic counselors, and patients, offering essential insights and solutions with a 5-day turnaround time, aiding in the quest for answers. Learn more about our rWGS: https://bit.ly/42iERVj Explore our blog to learn about our WGS offerings and discover insights on how it has emerged as a valuable tool in the diagnosis of tandem repeat disorders in NICU/PICU: https://bit.ly/46CIFme #ThinkBG #BGreat #GenomeSequencing

Our paper was chosen as Cover Story of the current issue of the International Journal of Neonatal Screening! We and other experts on Inherited Metabolic Disease (IMD) utilized a Delphi Survey to formulate some statements concerning the Wilson and Jungner (W&J) criterion ‘Treatability’ in the context of newborn screening (NBS). Ten statements were formulated and applied. The results suggest that a transparent Delphi study with a clear consensus is a suitable method for establishing a scoring system for Treatability. However, this study also showed the complexity of eligibility assessment for NBS, indicating that the evaluation of other interrelated W&J criteria is essential as well. The study is an initial step in the process of selecting disorders for NBS, particularly if genetic screening methods are introduced as first tier and more IMDs are technically eligible for inclusion. With Abigail Veldman, francjan van spronsen, Rebecca Heiner-Fokkema and many other contributors. https://lnkd.in/eQzqPdTE #metaboleziekten, #neonatalscreening

On February 29, as we recognize #RareDiseaseDay, CBS News reported on the #BabySeq Project in an interview with our director, Dr. Robert Green MD, MPH, and family participants from the project. Dr. Robert shared how he hopes the attention will lead to more screening for genetic conditions in newborn babies. According to The National Institutes of Health there may be as many as 7,000 rare diseases affecting millions of Americans. One of them is 8-year-old Kai, who was born with a gene mutation associated with a narrowing of the aorta. The mutation was only picked up because Carter took part in the #BabySeq project, which allowed Kai's genome to be sequenced at birth. An echocardiogram confirmed super valvular aortic stenosis. Babies in the United States get mandated newborn screening for certain conditions but a recent survey finds most rare disease doctors favor screening with genomic technology. "There are over 700 genetic conditions that are treatable today and that you can really only detect with genetic testing with actually looking at the DNA code itself," said Dr. Robert Green, who leads the #BabySeq project at Mass General Brigham. "Over 10% of these apparently healthy babies had unanticipated and actionable genomic findings. Think about that. Ten percent. It doesn't mean they're all gonna get the disease but it means that 10% of them were at risk for a genetic condition that you can do something about it." Read Dr. Robert's interview with CBS News today on #rarediseaseday because screening with novel genomic technologies will save lives and, most importantly, will save multiple kids the agony of going through repetitive tests to know why their bodies behave the way does. https://lnkd.in/g-KUmFvK #raredisease #rarediseaseday #rarediseaseawareness #rareconditions #rarediseasecommunity #research #rarediseaseresearch #healthresearch #translationalresearch #science #genetics #dna #genes #genetictests #genetictesting #geneticcounseling #geneticresearch #genome #genomics #preventivegenomics #translationalgenomics #newbornscreening #screeningsaveslives #sequencing #genomictechnology #genomicresearch #dnasequencing #newbornsequencing #genomesequencing #wholegenomesequencing #newbornhealth #childhealth #newborncare #childcare #geneticdisorders #earlydetection #earlydiagnosis #prevention #health #precisionhealth #publichealth #populationhealth #healthcare #preventivehealthcare #medicine #precisionmedicine #genomicmedicine #futureofhealth #futureofhealthcare #futureofmedicine #sciencecommunication #scicomms #healthcommunication #healthnews

Did you know that as many as 7,000 rare diseases may affect millions of Americans? CBS News reported on the BabySeq Project in an interview with Dr. Robert Green and participants from the project on Rare Disease Day. Dr. Green shared his hopes for more screening for genetic conditions in newborn babies. Read more about Genomes2People Q1 progress here: https://lnkd.in/gi2pieq5 #newsletter #healthnewsletter #research #healthresearch #translationalresearch #science #scientificresearch #genetics #dna #genes #geneticresearch #geneticconditions #geneticdisorders #geneticdiseases #genetictesting #geneticcounseling #geneticcounselor #medicalgenetics #clinicalgenetics #geneticists #genome #genomics #preventivegenomics #translationalgenomics #genomicresearch #genomicsequencing #dnasequencing #genomesequencing #wholegenomesequencing #newbornscreening #newbornsequencing #newbornhealth #childhealth #health #precisionhealth #publichealth #populationhealth #preventivehealth #personalizedhealth #rarediseaseday #raredisease #primarycare #babyseq #newborn #healthcare #personalizedhealthcare #preventivehealthcare #preventativehealthcare #healthequity #medicine #precisionmedicine #genomicmedicine #preventivemedicine #preventativemedicine #personalizedmedicine #healthcommunication #sciencecommunication #scicomm

【Integration between Genomic and Computational Statistical Surveys for the Screening of SNP Genetic Variants in Inflammatory Bowel Disease (IBD) Pediatric Patients】 Full article: https://lnkd.in/gBnm8-ku (Authored by Dago Dougba Noel, et al., from University of Brescia (Italy), etc.) #Inflammatory_bowel_diseases (IBD) are multifactorial disorders influenced by genetic susceptibility, altered intestinal flora and immune dysfunction making challenging IBD phenotypes diagnosis. This study screens for the distribution dynamism of IBD pathogenic genetic variants (single nucleotide polymorphisms, #SNPs) and risk factors in four (4) IBD pediatric patients, by integrating both #clinical_exome_sequencing and computational statistical approaches, to categorize IBD patients in Chron's disease (CD) and ulcerative colitis (UC) phenotype. #Computational_Statistic 

New research from Stanford University may help explain why more women than men are diagnosed with multiple sclerosis. This finding may provide information that can be helpful in accelerating the diagnosis of autoimmune diseases and providing new avenues to treat them. #multiplesclerosis #ms #autoimmunedisease #autoimmunediseases #medicalresearch #scientificresearch #genetics #geneticresearch #stanforduniversity #nature

Devastatingly, 30% of children with a rare disease die before their fifth birthday, in part due to delayed diagnosis and limited treatment options. At this point, there have been enough reported studies deploying a variety of sequencing tools for rare disease diagnosis that it is now possible to review the advantages and disadvantages of different approaches. For clinical laboratory teams, it can be instructive to consider the diagnostic outcomes of exome versus genome sequencing, proband versus trio sequencing, short-read versus long-read sequencing, the value of epigenetics, and more. MLO’s June Continuing Education article: For rare pediatric diseases, genome sequencing can increase diagnostic yield by Nabihah Sachedina, MBBS, MPP, MBA, covers rare pediatric diseases, genomic sequencing, and disease variants. Read the article and take the test here: https://lnkd.in/ggVsUQGf #ContinuingEducation #RareDiseases #PediatricHealth #Children #Diagnosis