Excited to share the importance of exome reanalysis in unsolved cases. Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome mdpi.com/1387008 #mdpijpm via JPM_MDPI

The EveryLife Foundation in partnership with Biotechnology Innovation Organization, The Kith Collective Kim McCleary, National Health Council PhRMA and in collaboration with nearly 100 community leaders, has developed a transformational resource, the “Guide to Patient Involvement in Rare Disease Therapy Development."

Today marks the first day of Rare Disease Awareness Month! Join us this month in raising awareness for the 300 million people living with a rare disease all around the world! ➡️Find out how you can get involved: cutt.ly/eOlehAY

Equity means: ✔️ social opportunity, 🏫 non-discrimination in education and work, and 🏥 equitable access to health, social care, diagnosis and treatment. Join us on 28 February for a more equitable society! ➡️Check out our equity toolkit: cutt.ly/wIWqdSV

A team of scientists at Northwestern University in the US have accidentally created overly-aggressive mutant hamsters following a gene-editing experiment. 🐹 They were trying to increase bonding between the lovable animals but failed. Let's Discuss 👇 trib.al/KQYbMqu

Important insights into Hereditary Spastic Paraplegia and key findings that may lead to novel therapies. Darius Ebrahimi-Fakhari Mustafa Sahin National Organization for Rare Disorders (NORD) Boston Children's iddrc.org/translational-…

For families with disabilities in the Greater Massachusetts communities. Sign up link spedchildmass.com/newsletter-sig… @TMP_HMS CCNC Brain Studies crehanlab TERCtweets The BIRCh Project PABI Autism Research @MGH_RI Child Advocacy Program-Harvard Law School Aspire Living & Learning Boston Children's Hospital Trust Manton Center Gene Discovery Core Cummings Properties Lisa @ Jimmy Fund Clinic UMass Amherst ATC

Will exome testing really help find a diagnosis? Learn more about genomic testing for rare diseases with these resources from the The Jackson Laboratory Clinical Education team. #MedGeneEd22

We're so excited for the Boston Children's Eversource Walk this weekend! 👨🏽‍🦯🧑🏿‍🦼🚶🏿 👩🏽‍🦽 🚶🏿‍♀️There is still time to join us or contribute to our fundraising efforts here: fundraise.childrenshospital.org/goto/genedisco…

Manton Center Fellow Boxun Zhao 赵博洵 led this project, which highlights the important role of SVA insertions in #raredisease diagnoses and supports that pathogenic variants in SRCAP landing outside the Floating Harbor Syndome locus lead to a related neurodevelopmental disorder

The Early Psychosis Investigation Center (EPICenter) and the Manton Center Gene Discovery Core Boston Children's seek to better understand early-onset #psychosis, affecting children as young as 4. ms.spr.ly/6013jA85X #genetics

#RareDiseaseDay is coming up this month on February 28, 2023! Want to #ShowYourStripes with NORD this Rare Disease Day? Find out how you can get involved by sharing your story, participating in #LightUpForRare, or attending an event near you: bit.ly/3YdfuCc

Angelina from Australia is one of the Rare Disease Day Heroes for 2023! She loves dancing, watching cartoons & playing with her big brother. Read Angelina’s story: bit.ly/3YoCcax #RareDiseaseDay #LightUpForRare #ShareYourColours Rare Disease Day

Looking to start a conversation on rare diseases with young people? With our School Toolkit, you can use: 👨‍🏫 2 lesson plans 📗 2 books, Merlin, the Little Feline & A Friendship Story 💜colourable poster ✨ Upcoming Teenager Lesson Plan next week! ➡️ cutt.ly/g20AhGl

Join us as we celebrate #RareDiseaseDay tomorrow Boston Children's!

Hi nurse colleagues! There's a new Global Nurse Network focused on caring for people living with #rare and #undiagnosed diseases. To join or learn more, check out their website gnnrd.org

Published online at AJHG! 🎉 Our work on the "Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia". Thanks for the support and guidance from my wonderful co-mentors Drs. E. Alice Lee Eunjung Alice Lee and Timothy W. Yu Tim Yu !