Alport Mutation Meeting
Date: Feb 06-07, 2020
Time: Feb 06 (Thu) 1-5 pm, Feb 07 (Fri) 9-5 pm
Location: Chandos House, 2 Queen Anne St, Marylebone, London (part of the Royal Society of Medicine)
A two-day meeting of the International Alport Mutation Collaborative will take place in London (UK) on February 6/7, 2020.
The provisional program of the meeting will cover various topics and will include:
- Update on extended phenotype of Alport syndrome -FSGS, cystic kidney disease, IgA nephropathy.
- Review of Alport variant databases - LOVD, ARUP, ClinVar, HGMD.
- Current recommendations for testing; Genes to be tested; What to do when no mutation is found; Functional assays, Splicing assays - extending the splice region; Testing for mosaisicm; ClinGen - aims and overlap; ACMG criteria as used for Alport syndrome.
- Mutational hotspot in the Alport genes; Assessment of hotspot variants in normal and disease databases; Correlation of variants with hematuria; Founder mutations; Genetic modifiers; Decisions on pathogenicity of difficult variants - COL4A5, COL4A3 and COL4A4; Decisions on pathogenicity of Glycolic and non-Gly variants.
Registration fee: £30.- (pay on the day)
Register by February 1, 2020 via E-mail: email@example.com (Judy Savige)
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