Seattle biotech company Phase Genomics announced Wednesday that it received two National Institutes of Health (NIH) grants totaling $3.9 million. The funding, which runs for three years, will help pay for projects focused on chromosomal abnormalities that cause problems with fertility and reproduction and with diseases such as cancer.
Many people are familiar with the idea of genetic mutations caused by small errors in the sequence of someone’s DNA or genetic code. In the case of the chromosomal mutations, chunks of the code are swapped into new spots, flipped around backwards or fused in irregular ways. If someone were to look for the abnormality by simply sequencing stretches of DNA, the oddity might be missed because the code would be found intact, despite being in the wrong place, which can cause serious problems.
Historically, these sorts of mutations were studied by growing cells, isolating the genetic material, staining it with dyes that reveal its structure and examining the chromosomes under a microscope to look for changes. This approach to cytogenetics, which refers to the study of the structure of chromosomes, is laborious, costly, requires special training and limited in terms of the source that can be used to get the genetic material.
Phase Genomics is taking a different approach using a technology called proximity ligation or Hi-C that allows for a rapid, less expensive analysis of chromosomes using machinery already available in many labs.
The startup is applying the Hi-C approach to detecting chromosomal abnormalities through test kits and by using artificial intelligence to recognize normal versus abnormal chromosomes.
“We think this can transform a huge field of cytogenetics,” said Ivan Liachko, CEO and co-founder of Phase Genomics.
Phase Genomics previously received a total of $3.5 million in grant funding from the NIH, the U.S. Department of Energy and the Bill & Melinda Gates Foundation. Other projects at the company include work on discovering new bacteria and its genetic code and studying antibiotic resistance. Phase Genomics generates revenue from the sales of its proximity ligation kits, scientific services and computational analysis.
The two new grants come from the NIH’s National Human Genome Research Institute (NHGRI) and National Institute of Child Health and Human Development (NICHD).