פרופ' אורלי אל-פלג

תחום מחקר: רפואת ילדים

Synopsis

We focus on patients, typically children, with rare, undiagnosed disorders. We try to identify their disease causing mutations, usually in new genes. Over the years we employed different technologies; now we are at the era of the EXOME. We developed tools to analyze exome analyses. On good days, we find a new gene, and link it to a disease in human. We annotate the genes and name the genetic disorders, paving the way for future cure.

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients

S Edvardson, F Gerhard, C Jalas, J Lachmann, D Golan, A Saada, A Shaag, C

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

R Spiegel, A Saada, J Halvardson, D Soiferman, A Shaag, S Edvardson, Y

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Eyal Shteyer, Ann Saada, Avraham Shaag, Fida' Aziz Al-Hijawi, Rojette Kidess,

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Flora Barghuti,Khaled Elian,John Moshe Gomori,Avraham Shaag,Simon

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly