What Causes Developmental Disorders?

Scientists who have been working on finding causes of developmental disorders may have found 12 new issues that could be attributed to cause developmental disorders. The research, being conducted at Deciphering Developmental Disorders (DDD), has revealed a dozen new causes that upon further analysis may prove to be linked to cause developmental disorders.

The study involved collecting genetic information and compiling a database with each patient's genome. DDD is collaborating with the NHS (National Health Service) as well as the Wellcome Trust Sanger Institute. The DDD also has a secure, nationwide data-sharing network that allows researchers to find patients with rare disorders with more ease.

Dr. Helen Firth, who is the clinical lead for the study conducted by DDD and an author from the Department of Clinical Genetics at Addenbrooke's Hospital, said, "This project would not have been possible without the nationwide reach of the UK National Health Service, which has enabled us to unite a number of families who live hundreds of miles apart but whose children share equivalent mutations and very similar symptoms."

The study found that developmental disorders may be caused by dormant "de novo" genes that appear in children. Scientists also noticed that these genomes may not exist in the genetic make-up of the parents; however, the benign variants in the children may have been inherited, thereby causing abnormal conditions in the children.

This study involves analysing data from around 12,000 families, and researchers hope to quickly and efficiently diagnose and find causes of developmental disorders to help more families. The principal investigator of the DDD project and senior author, Dr Matt Hurles, stated, "DDD and DECIPHER have demonstrated that large-scale data sharing can give families the diagnoses they so urgently need; diagnoses that simply cannot be made by looking at the data in isolation."