Imagine reading a blueprint that\u2019s 3.2 billion pages long.<\/p>\n
That\u2019s how many strands of DNA make up the human genome, the set of instructions that makes each of us who we are. Geneticists like UConn professor Rachel O\u2019Neill of the Department of Molecular & Cell Biology are deciphering that expansive blueprint to help us better understand the building blocks of life.<\/p>\n
\u201cWe now know the order and structure of between 80 to 90 percent of the human genome,\u201d O\u2019Neill said. \u201cToday, the field of genomics and the accompanying technology that\u2019s been developed has expanded to examining how DNA interacts within a single cell and how different genes are active in different tissues and even single cells across complex tissues, such as the brain.\u201d<\/p>\n
O\u2019Neill noted that genomes can morph\u2014which presents the next challenges in genomic research. She focuses her research on understanding this instability: why in some cases it\u2019s detrimental, such as with cancer, or how, in other cases, it provides opportunities for new species to evolve or adapt to their environment.<\/p>\n
\u201cThe focus of this effort is on the DNA in our genome that is considered \u2018selfish\u2019 and recently evolved. Retroviruses are an example of that kind of DNA that our genomes all have,\u201d O\u2019Neill said. \u201cMore specifically, I work on trying to understand why our genomes remain stable most of the time, while every so often a genome can fall into relative chaos or instability.\u201d<\/p>\n
While most of us don\u2019t think about our genome every day, this type of research can have a significant impact on our lives.<\/p>\n
\u201cIt is tightly tied to our perception of ourselves in so many respects,\u201d O\u2019Neill said. \u201cFor example, when we go into a doctor\u2019s office and fill in the family history form, we are providing some genetic information that will guide the diagnosis and treatment of patients. Another relevance is that genomic information is a future diary in some respects as to what may happen to us as we age. Because of this, genetic information has to be handled very differently than other medical tests. For example, a cholesterol screening says something about your metabolism; but it can be altered with diet and exercise, so it\u2019s not a permanent record.\u201d<\/p>\n
O\u2019Neill oversees UConn\u2019s Center for Genome Innovation<\/a>, which supports faculty and student research with state-of-the-art technology, technical support, and grant project assistance. Additionally, the Center supports more than 100 labs across UConn Health and the Storrs and Avery Point campuses, so O\u2019Neill stays busy researching and mentoring students.<\/p>\n \u201cOne of my recent memorable moments is when a student came running into my office having experienced the same discovery excitement I had as a grad student, this time on her own research,\u201d she said. \u201cShe found that the retrovirus we were working on was a primary component of the chromosome we were studying. That was a gold moment!\u201d<\/p>\n As she continues her work on the human genome, one of her priorities as a scientist is to relate her research back to the public.<\/p>\n \u201cOne of my goals is to promote the idea that the study of genetics is important,\u201d O\u2019Neill said. \u201cUnderstanding genomes can tell us so much about ourselves and our world. The study of genomics is increasingly intersecting with individuals at the most personal level, with a potential to shape the future of healthcare.\u201d<\/p>\n Take a tour of the Center for Genome Innovation: cgi.uconn.edu<\/a>.<\/em><\/p>\n