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Genomic matchmaking initiatives
You may not have the 2nd patient with a de novo mutation in the same gene, but somebody else in the world may have!
http://www.matchmakerexchange.org/
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Web‐based portals to enter your candidate disease gene(s)
If a match is found, you will automatically be put in contact with the geneticist who entered the data!
Widely used amongst diagnostic laboratories
Facilitates diagnoses and fosters research
Finding recurrent mutations in
our candidate ID genes from 2010 & 2012
Additional patients
YY1
DYNC1H1
DEAF1
CIC TANC2
TNPO2 PHACTR MTF1 GATAD2B CTNNB1 PROX2 LRP1 RAPGEF1 DDX3X
No additional patients
ZMYM6 GRIA1 PHIP
WAC MIB1 PPP2R5D KIF5C COL4A3BP EEF1A2 MYTL1 CAMIIKG ASH1L PSMA7
Power of genomics & global data sharing
Multiple ID patients identified with deleterious mutations in 20 of 27 candidate ID genes!
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 21