Deciphering Developmental Disorders’ Gene Sequencing Program Finds A Dozen New Genetic Causes For Developmental Disabilities

Dawn Papple - Author

Dec. 28 2014, Updated 12:38 p.m. ET

The Deciphering Developmental Disorders program is the largest gene sequencing study of developmental disabilities in the world. Autism Speaks’ MSSNG initiative is a campaign that the Inquisitr focused on just weeks ago with a similar theme. Autism Speaks suggests that the organization’s project is expected to be the largest genetic sequencing database identifying specific genetic links to Autism Spectrum Disorder. The Deciphering Developmental Disorders’ plan is to shed light on the genetic variants involved in a variety of developmental disorders. New research, published in Nature, highlighted 12 new genetic causes of rarer developmental disorders. The Deciphering Developmental Disorders program officials hope to sequence 100,000 genomes in the next two years.

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The researchers involved in the Deciphering Developmental Disorders’ genetic sequencing project claim that up to half of all children with severe developmental disorders believed to be of genetic origin remain without a genetic diagnosis. The new genetic links discovered are so expansive that these genes could increase the proportion of kids that could be genetically diagnosed by 10 percent.

The genetic sequencing program, according to Medical News Today, is the “largest nationwide and genome-wide diagnostic sequencing program in the world.”

“Working at enormous scale, both nationwide and genome-wide, is critical in our mission to find diagnoses for these families,” Dr. Helen Firth, the clinical lead for the Deciphering Developmental Disorders program, explained.

The 12 new genetic variables were identified from only 1,133 data samples. The program began in 2010, and is a team effort between the British National Health Service (NHS) and the Wellcome Trust Sanger Institute.

“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,” Dr. Firth said.

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One highlight of the new genetic research was the identification of a new, “distinct dysmorphic syndrome.” This new genetic syndrome was discovered after researchers on the project noted similarities in symptoms and facial features of just two unrelated children with identical mutations of the polycomb group ring finger 2 (PCGF2) gene. This gene is involved in embryonic development, cell cycles, and the formation of tumors, according to separate data from the HUGO Gene Nomenclature Committee (HGNC).

Interestingly, each of the newly discovered disorders identified by the program were found to be caused by new mutations of the individual’s genetic make-up, rather than by genes passed down by the individuals’ parents genetically. All information discovered by the program will be shared globally, as Dr. Matt Hurles, senior author on the research recently published, explained.

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“There is a clear moral imperative for both clinical testing laboratories and research studies to share this information globally. 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.”

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The ability to make a formal genetic diagnosis of these rare developmental disabilities provides a framework to the search for treatments, so the new findings do more than just identify the genes involved in these disabilities.

[Photo via Pixabay]


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