Research

Cognitive disorders (mental retardation, behavioral and psychiatric disorders)

Deafness and blindness

Neuromuscular disorders

Haemoglobinopathies

Cancer genetics  

We started our research in the area of Intellectual Disabilities (ID) since 2004. Our project covers either syndromic or non-syndromic forms of ID with all heterogeneities exist. The goal of this project is to establish the genetic causes of ID using cytogenetics, and molecular genetics techniques. Most of the genetic research has been focused on X-linked forms of ID in last 20 years and these investigations has lead to discoveries of many genes on X-chromosome, however, that the X-linked forms account for only 10% of ID. On the other side, not much attempt has been put to identify the autosomal recessive and autosomal dominant forms of ID. Until 2004 only three genes were known for autosomal recessive non-sydromic ID. Our team in USWR, Genetics Research Center in Tehran and Max Planck Institute in Berlin few days ago has published our breakthrough in October issue of Nature entitled “Deep sequencing reveals 50 novel genes for recessive cognitive disorders”. In this finding we are reporting the results of 136 consanguineous families with moderate or severe forms of ID mostly from Iran. We were able to identify a single homozygous mutation for 78 of these families of which 50 genes are novel. Our discovery almost had tripled the number of genes involve in non-syndromic ID.

For more information, visit the GRC website at http://www.uswr.ac.ir/GRC