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Identifying patients with rare diseases requires a largenetwork of collaboratorsDr. L. Al Gazali, UAEDrs. F. Al Kuraya, M. Salih, KSADr. A. Al-Qudah, JordanDr. L. Basel-Vanagaite, IsraelDr. K. Campbell, USADr. W.B. Dobyns, USADr. A. Krause, South AfricaDr. M. Mora, ItalyDr. F. Muntoni, UKDr. A. Rajab, OmanDrs. M. Tekin and M. Topcu, Turkey* ** **** * *• Many of our collaborators are based in countries with high rate ofconsanguineous marriages: consanguinity yields more informative families
Homozygosity mapping in a dystroglycanopathyfamily• 1 st cousin union affected with Walker Warburg Syndrome• 9.6% homozygosity - 2480 genes
Page 1 and 2: Exome sequencing and functional val
Page 3 and 4: Dystroglycanopathies are extremely
Page 5: Homozygosity mapping provides linka
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 and 16: B3GALNT2 is another new dystroglyca
Page 17 and 18: Chris WalshMuna Al SaffarBrenda Bar
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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