#mdc18 meets evo devo. Check out at Academia science on youtube

#mdc18 hears about important roles for SMAD6 in metopic synostosis as well as in thoracic aortic aneurysm and heart defects

#mdc18 lessons learned; Important role of EPHB4 in Vein of Galen malformations

Interesting to hear about NIPT experience at #mdc18. Reminded most cell free DNA is maternal, it' s not just the fetus we are testing, need processes in place

We've reviewed outputs from 90,000 genomes in 90 minutes at #mdc18 remarks Lucy Raymond

Huge contribution of parents to syndrome delineation recognised at Manchester Dysmorphology Conference #mdc18. Really important for new disorders.

Many new chromatin disorders discussed at #mdc18 today. Each one an orphan disease but this large collective family will be a good target group for trials of drugs involved in histone modification

Learning lessons at #mdc18. Have you unsolved cases of MOPD, neonatal progeria, Hallermann Strife, Floating Harbor? You may be missing Saul Wilson syndrome, check it out.

#mdc18 discusses role of Clinical Geneticists in future clinical trials; need to address training issues for this evolving role

#mdc18 continues the theme of one gene, more than one phenotype; phenotypers definitely still needed for variant interpretation in the genomic era!

Great to sit next to inspiring patient rep from Epicure at Ern dinner.ERN-ITHACA looking forward to ERN conference. pity that Brexit has ended our participation as coordinators

Gyorgy Pfliegler from Hungary gives one of the best talks at European Reference Networks meeting outlining measures in place for rare disease patients in Hungary, we could learn a lot from their implementation of Rare Disease Plan

Am I too old for the new genomics? If anyone else tells me to go in a sandpit this week I will scream......

Learning a lot on Rare Disease Day by reviewing CPMS cases ERN-ITHACA. ERN members should try it!

#ernithaca told to prepare for Brexit by closing all patient panels on which we lead - CPMS is going to be very quiet.....

Good to see so many #ernithaca centres represented at Manchester Dysmorphology Training course today

Further excellent example of disruption of gene regulation causing limb defects from Mundlos lab, so well presented by Lisa Allou #eshg2019

Good feedback for Expert Consensus on Fetal Valproate Spectrum Disorder. Thanks to the many who made this possible for patients and #ernithaca

Enjoying cycle to work day on the Fallowfield Loop @MFTgreen. Get on your bikes to support our green team!

Not only are junior doctors working full out, this is what greeted my daughter at the end of her shift - raging.....