A consortium has been established to support US researchers in innovating and implementing state-of-the-art techniques to understand the genetic causes of single-gene diseases.
The Mendelian Genomics Research Consortium will be established with $80 million from the US National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. Single-gene diseases, also known as monogenic or Mendelian, refer to diseases that occur when one gene in the genome carries a mutation. Approximately 7000 diseases are thought to be Mendelian, affecting around 400 million people worldwide.
NHGRI Division of Genome Sciences director, Dr Carolyn Hutter, explained: 'This consortium goes a significant step beyond NHGRI's already successful efforts in this area, but adds a more intense focus on data sharing and enabling the broader research community to tackle challenging diseases whose genetic causes were eluding identification by researchers.'
Previously, pinpointing the exact gene underlying a Mendelian disease has mainly relied on a DNA sequencing approach called exome sequencing. This strategy involves only selecting genomic regions that code for a protein, and sequencing these sections to discover if mutations are present. However, this approach hasn't been able to discover the genes responsible for many Mendelian diseases. Furthermore, when the gene is contained within a complex region of the genome, accurate sequencing is more challenging.
Now, the NHGRI funding will bring together five clinical sites and one data coordination centre, with an aim to improve the quality and speed at which disease-causing gene mutations are not only detected, but also researched further. To do so, the consortium will establish innovative techniques and analyses for detecting genes and genetic mutations by sequencing and other methods, as well as enhance collaborations and data sharing to boost scientific knowledge underpinning the biology behind healthy versus diseased states.
By understanding the previously-unknown genetic causes of single-gene diseases, therapies could be developed for treating patients with a Mendelian disease. Moreover, the newly established consortium, which is likely to be funded over the next five years, will also look to involve consenting patients and the broader community through outreach and education projects.