Seeking a Diagnosis for Children with Rare Neurodevelopmental Disorders

Many children with rare diseases go for years without a diagnosis. In a recent blog post, NIH Director Francis S. Collins, MD, PhD, wrote about a new report documenting the value of whole genome or exome sequencing for children with undiagnosed neurodevelopmental conditions. In a study of 119 children, 45% received a molecular diagnosis. Changes in medical care were indicated for about half of these children.

Read Dr. Collins' blog: https://directorsblog.nih.gov/2014/12/16/genome-sequencing-exploring-the-diagnostic-promise/