Boston Children’s Hospital is proud to join Broad Institute of MIT and Harvard and The Jackson Laboratory’s Rare Disease Translational Center to launch the Center for Therapeutic Genetics (CTG) — a new collaboration advancing genetic medicines for patients with rare diseases. With fewer than 1 in 20 rare diseases having an approved treatment, CTG is building a scalable, platform-based approach to accelerate the development of tailored therapies and expand access for more patients and families. Boston Children’s Wendy Chung, MD, PhD and Tim Yu, MD, PhD join collaborators David R. Liu, PhD, Cat Lutz, PhD, and Winston Yan, MD PhD in leading this effort. Together, we’re working to make individualized genetic medicine more efficient, accessible, and repeatable.

Boston Children's Hospital is proud to partner with the Broad Institute of MIT and Harvard and The Jackson Laboratory's Rare Disease Translational Center to launch the Center for Therapeutic Genetics (CTG). Leveraging the unique strengths of each of our three organizations, this collaboration focuses on creating precise, reliable, and repeatable therapeutics on an unprecedented scale for children with no path forward after a diagnosis. Learn more: https://lnkd.in/eVhBB2Fx 

People living with rare diseases can now stand on the shoulders of giants — just as we did a quarter of a century ago. Twenty-five years ago, breakthroughs in rare disease research and care felt like a distant hope. Today, thanks to the relentless dedication of teams like the Boston Children's Hospital Center for Rare Diseases, patients and families have access to advanced diagnostics, innovative therapies, and coordinated care that were once unimaginable. Grateful to see how far we’ve come — and even more excited for what’s ahead. #RareDisease #RareDiseases #BostonChildrens #PatientAdvocacy #StandOnTheShouldersOfGiants

I was proud to share the podium with my colleague, Dr. Whitney Longmate, at this month's Translational Research Forum at Albany Medical College.  Together, we had the opportunity to present our collaborative research, supported by the Allman Institute for Personalized Medicine, to investigate molecular mechanisms underlying ILNEB (Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa), a rare, life-threatening genetic disorder caused by mutations in the ITGA3 gene encoding integrin α3β1.  By integrating basic discovery science with translational research, we aim to develop personalized therapeutic strategies for patients with this devastating disease.  In doing so, our work also illustrates how studies of a rare genetic disorder can provide broader insights into personalized medicine. We are incredibly proud of our research team at Albany Med, whose dedication and creativity continue to build on years of foundational work as we strive to translate fundamental discoveries into meaningful advances in patient care.

How can we move from genetic risk variants to a mechanistic understanding of cardiovascular disease and how can this knowledge be translated into better treatments? These are among the key questions addressed by ATHENA (Atherosclerosis Targets from Human gEnetics and functional geNomic Approaches), a new transatlantic research network that has been awarded a USD 9 million International Networks of Excellence grant from the Leducq Foundation. ATHENA brings together leading researchers from Stanford University, the University of Cambridge, Karolinska Institutet, Washington University in St. Louis, and the University of Helsinki/Helsinki Institute of Life Science (HiLIFE)/FIMM to uncover the genes, molecular pathways and cellular mechanisms that drive atherosclerosis. At FIMM, the work is led by Professor Samuli Ripatti, who will coordinate key human genetics discovery efforts. By integrating large-scale genetic studies with proteomic, genomic and clinical data, this work will help connect genetic risk variants to the genes and cellular pathways they affect, providing the foundation for downstream functional studies across the ATHENA network. We are excited to contribute FIMM's expertise to this ambitious international collaboration! Read more: https://lnkd.in/dn4asDMY

Genomic screening at the population level has been shown to reduce disparities in health outcomes. The ability for providers to implement screening ethically and equitably is important for elevating health care for everyone. Early detection, intervention and proven treatments can significantly improve patient outcomes. Read more: https://lnkd.in/g6Z6xKGV UW Department of Biostatistics #HealthPrevention #PublicHealth

Genetic screening for common hereditary conditions may be coming to a primary care facility near you. The UW Genetics Analysis Center and other University of Washington School of Public Health researchers are part of a pilot project scaling up genomic screening in primary care settings for common, actionable conditions like hereditary breast and ovarian cancer where early detection can really help improve health outcomes. https://bit.ly/3TyNtYE

Researchers from IARC & partners provide 1st-of-kind evidence for presence of tobacco-specific nitrosamine mutational signature in human tumours. Signature may contribute to mutational landscape during development of certain cancers linked to tobacco use. Published in the journal Genome Medicine. https://lnkd.in/ecuiQBFq

A really stimulating Cambridge New Therapeutics Forum today, hosted at EMBL-EBI. It was fascinating to hear about new technologies for studying somatic evolution and the origins of disease, systematic and evidence-led target prioritisation, and the integration of human genetics with single-cell RNA sequencing to map eQTLs and identify effector genes in inflammatory bowel disease. A valuable opportunity to hear excellent science and connect with the Cambridge life-science community. #CamNTF #DrugDiscovery #HumanGenetics

Excited to share the launch of the Center for Therapeutic Genetics, a collaboration between JAX, Broad Institute, and Boston Children’s Hospital focused on advancing precision therapies for rare diseases. Truly inspiring to see the possibility of turning scientific discovery into real impact for patients. https://lnkd.in/gRFgNGGs