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Conclusions: Combination of human genetics andzebrafish validation to identify novel disease genes• Homozygosity mapping and WES in consanguineous familiescan identify disease-causing mutations in rare, severe disorders• WES is effective even in non-consanguineous unions withmultiple affected children• The zebrafish embryo is a rapid validation model for candidatemutations: muscle, eye and brain phenotypes are comparable tothe ones observed in human patients• GTDC2 and B3GALNT2 are novel dystroglycanopathy genesidentified using this approach• Multiple new candidates can be tested in this fashion
Chris WalshMuna Al SaffarBrenda BarryJen PartlowWhole-exomeSean HillTim YuDanielle GleasonJackie RodriguezErin Heinzen (Duke)David Goldstein (Duke)Stacy Gabriel (Broad)WWS-zebrafishVandana GuptaAlan BeggsTom Maynard (GWU)Richard Hawkes (U. Calgary)Masahito Hibi (U. Nagoya)ASD/IDDilenny GonzalesDavid TischfieldDeniz AtabayStefania DiCostanzoVanessa Mitsialis (Harvard)Antonella Cinquino (La Sapienza, Rome)Dimira Tambunan (Northeastern)Ranad Shaheen (King Faisal)Diya Sabbagh (King Faisal)Fowzan AlKuraya (King Faisal)Mustafa Salih (King Saud)Funding:Current: ASD/ID - NICHD/NIH K99,WWS - Manton Center for Orphan<strong>Disease</strong>sPast: WWS - MDA, Hearst Fund,ASD/ID - Centro per laComunicazione e Ricerca (Italy)
Page 1 and 2: Exome sequencing and functional val
Page 3 and 4: Dystroglycanopathies are extremely
Page 5 and 6: Homozygosity mapping provides linka
Page 7 and 8: Homozygosity mapping in a dystrogly
Page 9 and 10: CONFIGURE SU PLEGADOR FL SERIES EN
Page 11 and 12: gtdc2 loss of function severely aff
Page 13 and 14: Human GTDC2 mRNA rescues the morpha
Page 15: B3GALNT2 is another new dystroglyca
Page 19 and 20: GTDC2 is expressed in the brain and
Page 21 and 22: gtdc2 mRNA is highly expressed in t
Page 23 and 24: gtdc2 loss of function disrupts org
Page 25 and 26: Post-doctoral positions availableMa
Page 27 and 28: How do you approach a heterogeneous

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