Genomes2People

Erica Barnes is my mentor and hero and one of the people who makes me feel like the world is going to be ok. I can’t even see a picture of her face without crying tears of joy. #newbornscreening #raredisease Genetic Alliance Genomes2People International Consortium on Newborn Sequencing (ICoNS) Effie Parks Jillian Chance DNP, APRN-NP, FNP-BC Amy Gaviglio #genomics

Words for Geneticists Everywhere on the closing of the 3rd annual ICoNS conference By ICoNS member Rev. Carolyn Philstrom, adapted from the “Ventures Prayer” from my Lutheran tradition: You, dear geneticists, are called to ventures of which you cannot see the ending, By paths first trodden by Gregor Mendel, clergy turned geneticist, whose spirit, I believe, down to my DNA is with you now, guiding you. His feet walked through quiet gardens, Noticing, wondering, delighting in flowers of different colors, Like my own children. Like so many children Whose lives you will save. And so your own feet guide you now. Through universities, hospitals, airports, busy streets, quiet gardens. Though you will still endure perils - some known, some unknown, Do not be discouraged. Be of courage, knowing you walk this great journey together. And if ever you despair, Find some flowers in a quiet garden, And ask a child which color is their favorite. (Pictured: ICoNS youngest members: Edan, 6 and Josephine Philstrom, 2. Edan was diagnosed with SMA on the newborn screen, treated at 2 weeks old, and has no signs or symptoms of SMA) International Consortium on Newborn Sequencing (ICoNS) Genomes2People Amy Gaviglio Robert Green MD, MPH #ICoNS24 #NewbornScreening #Genomics #PublicHealth #raredisease Effie Parks Stephanie Coury Stephen Kingsmore Wendy Chung Nicolas Encina Rose Heald Pakhi Dixit, ACIM

Up next, we have a thought-provoking presentation by Drs. Robert Green MD, MPH and Ingrid Holm titled "Broadening Diversity in Genomics: The BabySeq Experience." Scheduled for 1:00 PM to 1:15 PM, this session will delve into the vital importance of diversity in genomic research and how the BabySeq project aims to enhance representation within the field. Join us as we explore strategies for fostering inclusivity in genomics and the positive impact of diverse perspectives on research outcomes. #ICoNS2024 #DiversityInGenomics #BabySeq

When I first began consulting with Novartis (then Avexis) about 6 years ago, Edan was just a few months old. Those were the very early days of gene therapy, and I was so excited about the promise of gene therapies for other diseases. As I watched Edan walk, then run, then turn 6 just 2 days ago, my heart sings thinking about all the other children who will be saved. Let's work together to make these therapies affordable, and let's fund genomic sequencing research so the babies get the therapies in time. The future is here! International Consortium on Newborn Sequencing (ICoNS) #newbornscreening #raredisease #genetherapy Genomes2People

Happening now is the "NBSeq in 3/5/10 Years" panel discussion moderated by Dr. Robert Green MD, MPH of Genomes2People, BabySeq, and International Consortium on Newborn Sequencing (ICoNS). Panelists include Dr. Eric Green, M.D., Ph.D. (National Human Genome Research Institute (NHGRI), Dr. Wendy Chung (GUARDIAN Study), and Dr. Mark Yandell (University of Utah). The experts envision the future of newborn sequencing from diverse perspectives: research, clinical practice, technology, and policy. #ICoNS24 #NBSeq #ICoNS #Genomics #NewbornSequencing #ICoNS2024

We are back! Dr. Lilian Downie and Dr. Nina Gold are now providing an update on the progress made by the ICoNS Gene List Subcommittee. Join this session from 1:05 PM to 1:15 PM to learn about the latest developments in newborn sequencing gene lists and their impact on screening programs. Bios: Dr. Nina Gold is a medical geneticist, biochemical geneticist, and Director of Prenatal Medical Genetics at Massachusetts General Hospital in Boston, MA. She is currently an Assistant Professor at Harvard Medical School. Her work, funded by a K08 award from the National Human Genome Research Institute, focuses on identifying undiagnosed individuals with genotypes associated with inherited metabolic disorders. She is also a co-investigator on the BabySeq project, a randomized controlled trial of whole genome sequencing in a diverse cohort of healthy newborns led by Dr. Robert Green MD, MPH and Dr. Ingrid Holm. Dr. Downie is a pediatric clinical geneticist with a special interest in genomics in public health, including newborn and prenatal screening. She works in a perinatal service at Mercy Hospital for Women and in the laboratory at the Victorian Clinical Genetics Service in Melbourne, Australia. #ICoNS2024 #GeneList #NewbornSequencing #Genomics

Coming up, Dr. Nidhi Shah will present an update on the progress of the ICoNS Data Sharing Subcommittee. Join this session from 1:25 PM to 1:35 PM to learn about advancements in data sharing for newborn sequencing and its impact on collaboration and research. Bio: Dr. Nidhi Shah, MD, is a pediatrician-medical geneticist and physician-scientist, with a research interest in implementation science, studying precision genomic medicine as well as novel applications of genetic tools and technologies. She completed fellowship training in clinical genetics at the Harvard Medical School Genetics Training Program. She serves as a Clinical Geneticist at Dartmouth Health Children’s and Assistant Director of Center for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology at Dartmouth Health. She co-leads the development of a regulatory-compliant bioinformatics software suite called Augmet which enables end-to-end analysis and reporting from raw sequencing data, with extensive data sharing abilities built in to allow for cohort-based and clinical trial research both for germline and somatic variants. She is part of the core scientific team working on the NIH funded Babyseq2 project. She is the Lead for Data and Analytics within the International Consortium on Newborn Sequencing (ICoNS) #ICoNS2024 #DataSharing #NewbornSequencing #Genomics

The day started with the first keynote presentation of #ICoNS24 by Dr. Eric Green, M.D., Ph.D. from the National Human Genome Research Institute (NHGRI) on "Making Genomic Medicine Mainstream: How Do We Get There?" Introduced by Dr. Robert Green MD, MPH, International Consortium on Newborn Sequencing (ICoNS) Co-Chairman, this insightful session explored the future of genomic medicine and the pathways to its integration into everyday healthcare. Thank you to everyone who joined us from 9:15 AM to 9:35 AM! 😊 #ICoNS2024 #Keynote #GenomicMedicine #HealthcareInnovation

#ICoNS24: As a supporter of Genomes2People and the #BabySeq Project, use the code #BABYSEQ for a 10% discount on registration for the upcoming International Conference on Newborn Sequencing (ICoNS) by the International Consortium on Newborn Sequencing (ICoNS), which will be held on October 9-10, 2024 in New York City. Code valid through 9/18! Register now at https://lnkd.in/gtBKU3Jx In 2013, we launched the #BabySeq Project, which revolutionized neonatal care by integrating genomic sequencing into newborn health. Newborn sequencing is on the rise today, with over 30 global projects advancing this transformative public health initiative. Join us at the third annual meeting at The New York Academy of Medicine. Attend in person or virtually! #ICoNS #ICoNS24 #Health #Healthcare #NewbornScreening #NewbornSequencing #NewbornHealth #PublicHealth #PreventiveHealth #PrecisionHealth #PersonalizedHealth #PreventiveHealthcare #PersonalizedHealthcare #Medicine #PrecisionMedicine #PersonalizedMedicine #GenomicMedicine #Genetics #PreventiveGenetics #Genomics #PreventiveGenomics #FutureOfHealth #FutureOfHealthcare #FutureOfMedicine

🧬 The Preventive Genomics Clinic | Nation's first academic clinic to offer comprehensive DNA Sequencing and genetic risk assessment to healthy adults and children: https://lnkd.in/gFX_zn2H 👇 The Preventive Genomics Clinic, led by Dr. Robert Green MD, MPH, provides innovative screening and cutting-edge genomic information for healthy adults to predict and potentially prevent disease onset. They go beyond typical diagnostic genetic testing. Their geneticists and counselors review personal and family medical histories to provide tailored genetics education and counseling. They assist in making individualized decisions on which genes to examine and discuss the limitations and benefits of broader tests like whole genome sequencing. Consult them for expert guidance, personalized care, and to make informed decisions about your genetic health. It is also available through telemedicine! To learn more about this innovative service or make an appointment, don't hesitate to contact Sheyenne Walmsley, MS, CGC, at preventivegenomics@bwh.harvard.edu. _________________________________________ #Genomes2People #G2P #Science #TranslationalScience #ScientificResearch #Research #HealthResearch #TranslationalResearch #Genetics #PreventiveGenetics #DNA #Genes #GeneticResearch #GeneticConditions #GeneticTesting #RareDisease #GeneticCounseling #GeneticEducation #GeneticInformation #GeneticCounselor #Genome #Genomics #PreventiveGenomics #GenomicResearch #TranslationalGenomics #Screening #GenomicScreening #GeneticRiskAssessment #GenomeSequencing #D2C #PharmacogenomicTesting #PolygenicRiskscores #GenePanels #WholeGenomeSequencing #Prevention #Health #PublicHealth #NewbornHealth #GeneticHealth #PreventiveHealth #PrecisionHealth #PreventiveHealth #PersonalizedHealth #FutureOfHealth #HealthOutcomes #Healthcare #PersonalizedHealthcare #PreventiveHealthcare #PersonalizedCare #FutureOfHealthcare #Medicine #GenomicMedicine #PreventiveMedicine #PersonalizedMedicine #FutureOfMedicine #Telemedicine #HealthCommunication #ScienceCommunication #SciComm