Genetics

Hidden burden: Most people carry recessive disease mutations

Humans carry an average of one to two mutations per person that can cause severe genetic disorders or prenatal death when two copies of the same mutation are inherited, according to estimates published today in the journal ...

Genetics

Scientists investigate inherited causes of autism

Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric conditions. Yet, most genetic links to ASD found in recent years have involved de novo mutations, which are not passed from parent to child, ...

Autism spectrum disorders

Whole-exome sequencing identifies inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...

Diseases, Conditions, Syndromes

Cystic fibrosis testing -- next steps

Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.