Research on the genetics of human disease has been ongoing now for many, many years. However, with the recent availability of rapid, relatively low cost full genome sequencing, the amount of research is beginning to skyrocket. Following are just a few examples of the incredible human genetics research that is taking root…and spreading.

1 – The National Institutes of Health (NIH) funds an entire institute, called the National Human Genome Research Institute (NHGRI), which focuses on research into the genetic causes of disease. Just this year, the NIH announced a new research program, funded at $25 million over 5 years. This program will acquire the DNA sequence of hundreds of newborns and follow them for a certain period of time to try and identify additional genetic causes of disease. (http://news.sciencemag.org/biology/2013/09/nih-studies-explore-promise-sequencing-babies%E2%80%99-genomes)

2 – The Personal Genome Project (http://www.personalgenomes.org/), a non-profit organization that began in 2005, is actively attempting to create an open (public) database linking human DNA sequence with biological and trait data. To do this, they are offering individuals free genomic sequencing in exchange for a life-long sharing of trait and health information. As a database of this kind includes more and more people with a variety of biological conditions, the stronger connections we will be able to make between specific DNA sequences and disease outcomes.

3 – Genomes 2 People (http://www.genomes2people.org/home/) is a program that encourages and highlights the continued research into translational genomics and health outcomes (the translation of DNA sequence to predicted health outcomes). Research in this area has blossomed over the past several years, and is just picking up speed.

I truly believe that we are entering the “golden age” of human genetics research and personalized medicine. Though the ability to perform full genome sequences is just coming online – and though we still know so very, very little about the link between human genetics and disease, the door has been opened to a vast amount of knowledge just waiting to be mined.