
Will Macken
189 posts

Will Macken
@w_macken
Academic Clinical Lecturer @UCLIoN @GreatOrmondSt interested improving genomic diagnostics and mito disease | Pitceathly lab group | 🌈☘️ he/him









🚨Advance article alert - mutant PTPMT1 impairs cardiolipin metabolism causing human disease. Fantastic collaborative effort across several continents! Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome academic.oup.com/brain/article/…

Our best attended educational session yet!We had the fantastic Dr Macken present his research & knowledge on Rare Mitochondrial Disease. It was a very insightful & informative talk.If you would like to learn more, read these papers rb.gy/dp324s rb.gy/2mbk1r

ICGNMD publishes1st Indian FSHD cohort nature.com/articles/s4143… AIIMS, Delhi, Leiden University Medical Centre & UCL London show overlapping but distinct FSHD genetics compared to Europe, underscoring importance of global rare disease research @vishnuvy @E_Bugiardini @FSHD_Leiden



Thanks so much to the clinicians and researchers who joined our #LilyFoundation Young Adult Support weekend @calvertlakes Huge thanks to Catherine & Isobel @MitoResearch Will & Adelina @LondonMito and, last but by no means least, Sue & Heather @ServiceOxford #mito #support




👀Find out more on the manifestations of mitochondrial diseases and their management in #Eye nature.com/articles/s4143… @Eye_Journal @DrJoshHarvey @GilhooleyMJ @NeringaJurkute @UCLeye






A summary of discussions from "failing well" session 😊


