Dear Lil BUB you can’t help it, but famous scientists like Malte Spielmann and Jay Shendure as well as Stefan Mundlos are extremely jealous of the attention the unraveling of your mysteries got. Can we please learn from you how to popularize science? How do you do it?

What a fabulous talk by Guillaume Canaud (MD, PhD) on treating PIK3CA-related overgrowth syndrome. The improvements in patients was both amazing and inspiring. Publication: ncbi.nlm.nih.gov/pubmed/29899452 #ESHG2019

New! Courtney French et al. present an improved pipeline for rapid trio WGS analysis for rare pediatric disorders #OA bit.ly/37Ltdvr

IMAGINE ID imagine-id.org

Investing in Young Children Today and Early Childhood Development | Brookings brook.gs/1pghK4h

great to see the IMAGINEID study is launched and we are ready to recruit families via imagine-id.org

Did you know there are around 7,000 different types of rare diseases and disorders? ow.ly/DvzOw #factoftheday #didyouknow

We love this Zebra from the NIHR RD-TRC #drawyourownstripes #GeneticsMatter #raredisease #RareDiseaseDay

Whoop whoop so proud of S4RD Cambridge speaking at Cambridge Rare Disease Network (CamRARE) event! Sarah see you for the drinks reception #RareDiseaseDay