丁香园AV

By Ian Bryce

Researchers from 丁香园AV鈥檚  have used groundbreaking genetic sequencing to diagnose a rare developmental disorder.

Professor Peter Ruben and doctoral student Mena Abdelsayed were co-authors of a study recently published in the . The study analyzed the genes of four adults and 37 children with unexplained intellectual developmental disabilities, looking for mutations in their DNA.

The team, consisting of researchers from over a dozen universities, hospitals, and research institutions around the world, used a method called whole-exome sequencing to examine the DNA of patients and their families, to find where genetic mutations occurred.

鈥淥ur DNA contains a huge amount of information and some of that is used to make proteins,鈥� says Ruben. 鈥淕eneticists went through all of this information and found the proteins that were made incorrectly.  We then studied one of those mis-made proteins in detail.鈥�

Ruben鈥檚 research focused on a rare mutation that affects development and function of skeletal muscle. By isolating and analyzing a specific protein, Ruben and Abdelsayed found that the genetic disorder created proteins that caused involuntary muscle contractions.

This particular protein mutation, he says, primarily affects skeletal muscle growth but also significantly affects neurological development.

The discovery has great implications for understanding and treating developmental disorders.

In this case, Ruben says that the disorder being studied is difficult to treat but not impossible.

鈥淵ou can鈥檛 treat a disease unless you know what causes it,鈥� says Ruben. 鈥淣ow that we know what causes this particular disorder, drugs or gene therapy can be designed to target the identified protein.鈥�

Of the 41 participants in the study, 90 per cent had their genetic causes identified and 44 per cent found treatments.

Read about the study in the New England Journal of Medicine .