Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome https://t.co/EX4ZbFcB4h @NewcastleHosps@UniofNewcastle@braincomms amazing opportunity to work with Prof Eugen Boltshauser on this rare syndrome
Some great boxing day reading - our most recent work discussing heterogeneity in Joubert patients is just out today in @pnas https://t.co/PcktP8g7Lp. Massive thanks to @The_MRC@Kidney_Research@NCKRF@RosetreesT for funding as well as everyone involved.
Guest speaker @weddellite speaking on the rare kidney consortium and insights into #cystinuria at the UK cystinuria patient day @GSTTnhs - @RKSC12@CystinuriaUK
The Rare Kidney Stone Consortium favors genetic testing of stone formers and @johnasayer’s approach! (Ignore @weddellite, the man behind the curtain; he is confused and ambivalent)
Great news for renal research capacity. Kidney Research UK has been chosen to partner with the @NIHRAcademy, to offer jointly-funded Partnership Fellowships at Doctoral level, as part of the launch of the new NIHR Fellowship programme. https://t.co/ri4ijUlcZf
@UMOD_ADTKD Patient and Relatives Information Day - Small Group Discussions - Thank you to such a friendly group of people for your open and honest disscussions @RenalRadar@Kidney_Research
Women have unique risks for their kidney health. That's why this year, World Kidney Day is dedicated to women. Find out more at: https://t.co/G3F2uOcLRq and raise awareness with us on March 8. 12 days to go!
The theme of #RareDiseaseDay this year is #research which is such an important thing in the #RareDisease community not only for improving diagnosis but to then work towards developing the best treatments so those with a rare disease can lead a normal life as possible #1in17 LP
Consultant nephroligist @Shalabh_Sriv from @STFTrust @SunderlandRoyal will be giving a #Research seminar @sunderlanduni 9th March pasteur 022 12:30-13:30 for students and #nhs staff