Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
Enigma Diagnostics Opens US Office
November 25, 2009
NEW YORK (GenomeWeb News) – UK-based molecular diagnostics firm Enigma Diagnostics has opened up its US headquarters in San Diego, the firm said yesterday.
The firm has hired Jorge Garces to serve as president and CEO of the US operations, with Greg Hamilton serving as COO and CFO. Garces was most recently VP of R&D and site operations manager for Hologic. Hamilton was VP of operations, planning, and analysis for Hologic's business unit focus on women's healthcare products. He also previously served as VP of finance and operations at Third Wave Technologies, which was acquired for $582 million by Hologic in 2008.
Engima said in a statement that the US headquarters "will expand rapidly with a recruitment programme planned for assay development, R&D, and commercial activities."
Enigma is developing a rapid, point-of-care, molecular diagnostics instrument platform and assays for the clinical and applied markets.
The firm, which is currently based in Porton Down, UK, but recently opened an office in Oxford, also noted that it has hired new executives for its European operations. Nick Williams has joined as CFO Europe, and Darren Hall has joined as COO Europe. Williams has held senior finance roles at Calyx, Truflo International, and Biocompatibles. Hall has worked for Graseby, Smiths Industries, and Biocompatibles.
