The condition has so far only been identified in two US families, and researchers are tentatively calling it, Ogden Syndrome, after the city in Utah where one of the families comes from. Boys born with the condition are described as having an 'aged appearance', with large eyes, wide mouth and wrinkled skin. They also have a range of other health problems, and the condition is ultimately fatal in infants.
Two different teams of researchers have recently published their findings on the condition, in two separate papers published in the journals Genome Research and the American Journal of Human Genetics. One group analysed the genomes of family members from the Black family in Utah, who had two affected boys that both died in infancy, and compared them to genetic sequences in a control group. Using the new analysis software the researchers were able to identify the gene NAA10, which codes for a protein involved in N-terminal acetylation, or protein modification. The team believes this gene plays an important role in the condition.
The analysis software, called the Variant Annotation, Analysis and Search Tool (VAAST), was developed by Dr Mark Yandell and colleagues at the University of Utah School of Medicine in Salt Lake City, in conjunction with the software company Omicia. The software works like a traditional BLAST search, which has been used by geneticists for many years to compare DNA sequences from different sources.
In a press release, Dr Martin Reese who was involved with the Utah team who published their findings in Genome Research said: 'The big challenge in genomic medicine today is how to sift through the millions of variants in a personal genome sequence to identify the disease-relevant variations'.
Dr Gholson Lyon, formally at the University of Utah, who was involved with the other paper published in the American Journal of Human Genetics, in a press release said the new software 'can identify disease-causing mutations with greater accuracy, using fewer individuals and more rapidly than was previously possible'.
The new software should also have wider implications for genomic research. Dr Eric Topol director of the Scripps Institute in California, who was not involved in the study, told Nature: 'This exemplifies an exceptionally rare disease, but the same type of strategy is now going to be applied to more common diseases to get the root cause'.