Summary:
🔹In this large sample of the UK population we found individuals with rare variants in 3 of 5 genes.
🔹 5-20% of these had a phenotype of interest.
🔹#COL4A1 gene was associated with having ≥2 phenotypes of interest.
This 🧠focused review was led by @EdWhittaker2 and Sophie Thrippleton, and follows on from our extracerebral review led by @krannikmae and I.
For those interested beyond the brain check it out here!
🔗https://t.co/ZKHYmJO5wA
The ISGC is an apolitical stroke genetics research organization; however, we express our strong support and solidarity with the people of Ukraine suffering from unprecedented military aggression.#WeStandWithUkraine
There’s a great PhD opportunity in Liverpool for anyone interested in doing clever things I don’t understand. It’s a fantastic city and you’ll be supervised by my brother, who shares half of my genetics and must therefore be pretty good.
Frequency and phenotype associations of rare variants in five monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants with whole exome sequencing data https://t.co/tKQJgO3DLt #medRxiv
Come & make a difference as part of an approachable and dynamic team assessing people across the UK with rapidly progressive dementia and a suspicion of CJD @ #NCJDRSU👇🏽 https://t.co/KI6noXXMN8
We have an exciting opening in the lab to study and develop methodology for the analysis of complex traits.
Please contact if me if you would like further details.
Application at https://t.co/3JuKjzjhVF
Strong words from the British Pregnancy Advisory Service (@BPAS1968) on the draft World Health Organisation alcohol action plan that says all women of childbearing age should be prevented from drinking...
Huge sample in what will become new way to understanding ‘clinically meaningful’ using #nlp on 80,000 responses from people drug matters to most - Great collaboration between @ARUKscientist @EdinUniUsher & @CenDemPrevent #epsom https://t.co/CvSvWoRa4e
40% of stroke instances are coded as unspecified strokes in structured #EHR, making #NLP a must-have to derive essential information from free-text clinical notes to understand patients better!
Very happy to report latest data from real team effort. Sequence analysis of >1000 cases identified rare #collagen_IV variants in sporadic intracerebral haemorrhage. Shows role of collagen in #stroke via rare and common variants. https://t.co/KmFmdNLMuy
@BBCNews, should it be Dr Smith Finley in your article here:
https://t.co/ql1wNbgitY
Her academic profile isn't difficult to find if you want to check:
https://t.co/sbYvyr0MPG
Interesting exploration of the struggles that public engagement professionals can face in the recognition of their expertise within UK university circles. Worth a look: @NCCPE @scotpenetwork @edbeltane #PEPInsights
Want to spend three years doing a PhD on FND in beautiful Edinburgh? We have two vacancies. Anyone in world potentially eligible except UK residents who are eligible for 12 other PhDs in network. Deadline 28th Feb. See link for details. https://t.co/iqENRkFlcS
We are conducting a survey to gather the opinions of health data users on data standards to help speed up the process of using health data for research and innovation.
Survey submissions close 17:00 on 31 January.
Find out more: https://t.co/gAIPfX1m70