Sayer Lab

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome academic.oup.com/braincomms/art… @NewcastleHosps @UniofNewcastle @braincomms amazing opportunity to work with Prof Eugen Boltshauser on this rare syndrome

Excited to announce series of #Alportonlineworkshops. We start next week with a Spotlight on the @Lennon_lab, Wednesday 20 May 17:30 BST. Scientists and patients are welcome to join, email research@alport.info for zoom details #Alportcollaboration #Kidney #Alport @Kidney_Research

Some great boxing day reading - our most recent work discussing heterogeneity in Joubert patients is just out today in @pnas pnas.org/content/early/…. 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

Kidney stone genetics @nckrf @RenalRadar link.springer.com/article/10.100… Precison Medicine in stone formers - with thanks to Fay Hill and as always @weddellite

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)

findaphd.com/search/Project… great opportunity in @SayerLab for MRC Dimen PhD

Gene editing may be possible to stop #kidney damage in #Joubert Syndrome | asn.kdny.info/vhvg30mEc5E

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. bit.ly/2OyfrAZ

@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

To all Gitelman Syndrome patients, and kidney disease or dialysis patients- please fill in this research, thank you #raredisease #gitelmansyndrome #Bartterssyndrome @Kidney_Research @RenalRadar gitelmansyndrome.co.uk/breaking-news - please retweet

Women have unique risks for their kidney health. That's why this year, World Kidney Day is dedicated to women. Find out more at: bit.ly/2rQepWz 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

@JASN_News @johnasayer Terrific collaboration with @GreatOrmondSt and Sven Enerbäck

@SayerLab MRC funded PhD studentship available on ciliopathies @CiliaAlliance