Nov. 8, 2012 A research team reported that next generation
sequencing of the exome, the 1 to 2% of the DNA containing the
genes that code for proteins, enabled the identification of the
genetic causes of unexplained intellectual disability in over
50% of patients in a study conducted at Radboud University
Medical Centre in Nijmegen, The Netherlands. "Through next
generation sequencing, we were able to discover mutations in
genes that had not been previously linked to causing
intellectual disability," said Marjolein Willemsen, M.D., Ph.D.,
who presented the research at the American Society of Human
Genetics 2012 meeting in San Francisco on November 8. Correctly
diagnosing children with intellectual disability (ID) can lead
to early intervention and special education programs, vocational
training and health screenings for associated conditions that
will enable them to reach their full potential, said Dr.
Willemsen of Radboud's department of human genetics. Genetic
diagnosis "is of major importance for the care