Congratulations and happy birthday to Biohub! We are lucky to be one of many grantees working to cure, treat or manage all diseases 💪🏽

Little hands helping us get ready for the #RareAsOne community meeting! We are looking forward to meeting the 20 new patient-driven rare disease organizations in the RAO network! Thank you to Biohub for helping to find treatment and cures💪🏽

So excited to meet the new #RareAsOne organizations and participate in this meeting

Amazing to be a part of this. Working to cure, treat or manage all diseases #RareAsOne

Merry Christmas from The Champ Foundation family to your family!

A very good year for our buddy!

States choose to screen newborns for varying numbers of #RareDiseases. With differences in how states name disorders, it's hard to tell how wide this variation is and how many babies may be missed simply because of where they were born. #NewbornScreening usnews.com/news/best-stat…

We are so excited to have been selected to receive a third year of funding from Biohub. We will continue supporting our Natural History Study (and participant travel) and the CFR registry, bringing us closer to treatment and a cure for Pearson syndrome and SLSMDS #RareAsOne

Please have a look into this plain English write-up about our in vivo #mtDNA base editing paper rdcu.be/cGFl5 | Thanks a lot @takanocraig | Medical Research Council MRC MBU Cambridge University The Lily Foundation The Champ Foundation

Celebrating William on Rare Disease Day (and every day!)

Lucky us to celebrate this boy every day and especially today! He’s 7!

So excited to meet and learn from families, researchers, and scientists at our conference in one next week!

Just concluded The Champ Foundation 3rd conference on single large-scale mtDNA deletions SLSMDs - we met SLSMDs families & Pedro Silva-Pinheiro MRC MBU Postdocs presented our early data on mtDNA deletion mouse model. Thanks for organising and your continuous support!!! #mtDNA #MitoDisease

The SLSMDS Conference was an incredible success! Thank you to our researchers who shared their work, CHOP for hosting, CZI Science for making it possible, and most importantly, to the families who attended! We hope everyone is feeling as motivated as we are 💪🏽

Last weekend was one of my favorite experiences with The Champ Foundation. Proud of what we’ve done so far, but still lots of work to do 💪🏽

Updates from The Champ Foundation newsletter mailchi.mp/3674710821f3/u…

William is a cause worth fighting for 💪🏽

My 7 year old is one in a million! He’s worth fighting for a cure 💪🏽

Out today in Nature Genetics, our work utilizing single-cell multi-omics to define specific immune cell subsets that experience purifying selection against pathogenic mitochondrial DNA. nature.com/articles/s4158… Check out a thread about this work below: 1/22