JAX Rare Disease Translational Center

Today marks an exciting milestone for the rare disease community.   The Rare Disease Translational Center is proud to be part of the newly launched Center for Therapeutic Genetics. By combining disease models, therapeutic development, genetic medicine innovation, and clinical expertise, CTG aims to make precision genetic medicine more scalable, repeatable, and accessible for patients with rare disease. We are grateful to our collaborators at the Broad Institute and Boston Children's Hospital and excited for what this partnership can achieve for families who have long waited for treatment options. #RareDisease #GeneticMedicine

RARE is now EVERYWHERE! RARE: A Rare Disease Revolution is available on multiple streaming platforms, including Amazon Prime, Google, Apple/iTunes, and YouTube. This film is a real-life superhero movie you don't want to miss. Watch it here: - Amazon: https://lnkd.in/gCpCWCCG - Google: https://lnkd.in/g7UGPVUf - YouTube: https://lnkd.in/gRynsfAs - iTunes: https://lnkd.in/geqC-FH7 For those interested in private screenings or speaking engagements, please reach out to New Day Films or DM info@araredocumentary.com. If anyone is trying to watch RARE outside the United States right now, dm me.. I will send you a discount code to watch it on New Day Film for $5 Thank you to all the superhero families who shared their stories and to the scientists who persevered. A special thanks to our sponsors: Ultragenyx, Illumina, GeneDx, AstraZeneca, Mahzi Therapeutics,Juno and Alexion Pharmaceuticals, Inc. With 1 in 10 people affected by a rare disease, consider what you would do if this was your child. Please share this so that everyone can see RARE. Casey McPherson Amber N. Freed Carrie Rich David Fajgenbaum, MD, MBA, MSc Ethan Perlstein Wendy Chung Pat Furlong Cat Lutz Nicole BoiceWendy Erler Yael Weiss J. Michael Graglia Effie Parks Jill Hawkins Sunitha Malepati Daniel DeFabio Charlene Son Rigby Emil Kakkis

Exciting news for the MSD community! The successful FDA IND clearance for this investigational gene therapy marks an important step toward bringing potential new treatment options to individuals and families affected by Multiple Sulfatase Deficiency. The JAX Rare Disease Translational Center at The Jackson Laboratory is proud to have contributed to the preclinical research supporting this program from its early stages. Congratulations to the many researchers, clinicians, advocates, foundations, and families whose partnership helped make this milestone possible. We look forward to following the program as it advances into the next phase of development.

The JAX Rare Disease Translational Center is thrilled to be part of the THRIVE initiative alongside the Broad Institute of MIT and Harvard, Boston Children's Hospital, and RARE Hope. We look forward to collaborating with this exceptional team to help advance promising therapeutics toward the clinic for individuals with AHC and Dravet syndrome!

Building on my genetic counseling, clinical, and translational research skillsets, I happily led a recent GenomeConnect webinar on Precision Therapeutics. Check it out here: https://lnkd.in/e5tfUXjH.

The Rare Disease Translational Center is growing!! Go to Careers at The Jackson Laboratory (JAX) to see more details on the positions below! Senior Director Study Director Senior Program Manager Associate Program Manager In Vivo Training Specialist Epilepsy Principal Scientist (in vivo ephys!!) Come join our team!

Discover the future of genetics and genomics! The Human and Mammalian Genetics and Genomics: The McKusick Short Course is a cornerstone training program for advanced undergraduate, graduate, and medical students; genetic counselors; residents; fellows; clinicians; and researchers. For more than six decades, the McKusick Short Course has combined foundational genetics education with emerging research and real-world application, helping participants build both conceptual understanding and practical insight through experiential learning. Learn more here: https://lnkd.in/g6j_yxNp Hope to see you there!

I’m proud to share a tremendous achievement that I was fortunate to be a party to. Through the dedication of teams across The Jackson Laboratory Harvard University, Children's Hospital of Philadelphia, we have demonstrated proof-of-concept for the correction of Dravet syndrome using adenine base editing. Led by Dr. David Liu, Dr. Ethan Goldberg, and Dr. Cat Lutz, their teams collaborated famously to pull off this achievement. Dravet syndrome impacts ~1: 14,000 children in the US alone and is characterized as a severe childhood epilepsy that is often refractive to epileptic treatments. Patients with this rare disease could expect to bare the symptoms and the complications brought on by them for life. However, this work demonstrates that it may be possible to directly target the offending genetic causes of Dravet syndrome and provide a long term solution in the form of a genetic medicine. I can’t thank enough the Herculean efforts of Andrew Nelson and Sophie Hill (who’s experimental contributions not only was instrumental to this work, but also her stellar photo made the cover). I also want to shout out Dravet Syndrome Foundation Spain, for it was their Scn1a R613X mouse that was instrumental in demonstrating this therapeutic approach can succeed. https://lnkd.in/gTimqUyT