Real, impactful science is teamwork. — Charles Lee<\/cite><\/p>\n<\/blockquote><\/p>\n The governor may have sold the idea of helping JAX Genomic Medicine come to Connecticut to the legislature on the basis of jobs. But this was no marriage of chance or economic convenience. JAX has a deep knowledge of the role of genetics in diseases of mice and of humans, and wanted a more direct way to translate that into medical treatments. UConn has broad expertise in the genetics of everything from microbes to livestock, plus a hospital with patients and clinician-researchers. Together, UConn and JAX could create an ideal ecosystem of collaboration between doctors, geneticists, and computational biologists that might yield cures for human disease.<\/p>\n \u201cReal, impactful science is teamwork,\u201d says Charles Lee, director of JAX Genomic Medicine in Farmington. By locating on the UConn Health campus, JAX researchers can team up with fantastic clinicians and researchers at UConn, he adds.<\/p>\n And UConn appreciates the partnership just as much, because of the talent JAX brings, as well as the great equipment and facilities. According to UConn vice president of research Jeff Seemann, an internationally recognized biochemist, the state-of-the-art UConn-JAX complex is the type of setting scientific researchers \u201cdream about. It\u2019s where any scientist could come, have a long and productive career, and die happy.\u201d<\/p>\n Here are a few of the research collaborations that have developed over the first two years of the UConn-JAX partnership.<\/p>\n Stormy and Yijun\u2019s Twisted Genome<\/strong><\/p>\n Yijun Ruan is holding a genome. To the casual observer it looks like a misguided sculptor had a field day with a bunch of old telephone cords. But these old cords expose a deep truth about our DNA: you can\u2019t read it linearly, like a book. Each loop of telephone cord represents a loop of DNA. Some loops stretch far away, not touching anything else. Other pieces bunch up in chokepoints (which look suspiciously like purple hair ties in Ruan\u2019s model).<\/p>\n \u201cThe three-dimensional structure is not just there to look pretty. It\u2019s also part of the regulatory framework,\u201d says Ruan, a molecular biologist and the Florine Deschenes Roux chair and director of genome sciences at The Jackson Laboratory. What he means is that your genetic code doesn\u2019t function when it\u2019s stretched out like a straight line. When it\u2019s at work in your cells, the twists and loops in your DNA bring genes and other bits close together that would otherwise be far removed. When they are close together, they can interact, changing and regulating each other’s functions. A mutation or deletion of a piece of DNA in one of the isolated loops may have no obvious effects, while deleted DNA in one of the chokepoints might cause a cascade of changes, leading to obvious disease.<\/p>\n Ruan has teamed up with UConn Health developmental biologist Stormy Chamberlain to get a better understanding of the shape of one specific area in the genome that could be a chokepoint. Ruan and Chamberlain will map it and look at the interactions on human chromosome 15, in a region related to Angelman, Prader-Willi, and 15q duplication syndromes. In many people with these disorders, a large piece of DNA is deleted or duplicated, which could alter the 3-D shape of the genome. In other people, the disorders can be caused by different types of genetic changes. These different genetic situations lead to different manifestations of the disease; Ruan\u2019s map might allow Chamberlain to explain why.<\/p>\n Their partnership is good for both of them; each has a perspective the other lacks.<\/p>\n “I\u2019m so close to the problem, I can see all the details, but ‘I can\u2019t see the forest for the trees!’\u201d Chamberlain says. \u201cIf I\u2019m 10,000 feet up, Yijun is in space!\u201d But you can see a lot from space.<\/p>\n \u201cMy job is to figure out the structure,\u201d Ruan says. \u201cIt\u2019s up to Stormy to figure out how to cure the disease!\u201d<\/p>\n Taming the Beasts of the Microbiome<\/strong><\/p>\n \u201cYou have in your gut this tremendous fermenter,\u201d says microbiologist George Weinstock, Evnin family chair and director of microbial genetics at The Jackson Laboratory. \u201cFull of species as diverse as a tropical rainforest.\u201d And, much like a tropical rainforest, many of these organisms are obscure, unknown to science because their native habitat is hard to explore and the organisms hard to breed in a lab. Weinstock and fellow microbiome researcher Julia Oh have developed bioreactors at The Jackson Laboratory in Farmington that can grow these fragile organisms and reproduce entire artificial microbiotic communities.<\/p>\n They\u2019ve been happy to partner with UConn Health gastroenterologist Dr. Tom Devers and nurse Lynn Baccaro. Devers and Baccaro have been treating patients with life-threatening gut infections since 2012 using fecal transplants. They take the bacteria-rich intestinal contents (otherwise known as poop) from a healthy person and put it in the colon of someone who\u2019s sick with C. difficile<\/i>, a terrible bacteria that ravages the gut. And 95 percent of the time, the person is cured within days.<\/p>\n \u201cWe see a broad spectrum of the Connecticut population. And we get interesting results: 70 percent of our patients catch this at home, not in a hospital,\u201d Devers says. C. difficile<\/i> used to be considered a hospital-acquired infection, so how are these people catching it at home?<\/p>\n Devers and Baccaro also want to know why their patients get healthy. What is it about the microbiome population of a healthy person that so quickly rescues the gut of someone suffering from C. difficile<\/i>? And could they possibly make an extract of pure bacterial strains that a patient could swallow, instead of enduring a fecal transplant?<\/p>\n Weinstock and Oh think the answer to that last question is yes. They\u2019ve developed a collection of four bacteria types that, when swallowed by a mouse with C. difficile<\/i>, cure the mouse. Will it work in humans? Baccaro and Devers would like to do a study to find out.<\/p>\n \u201cAll the patients I tell about that get very excited about the possibility!\u201d Devers says.<\/p>\n In addition to her work with Weinstock, Devers, and Baccaro, Oh has also started another UConn-JAX collaboration, this one with George Kuchel, director of the UConn Center on Aging. Together they will investigate how the skin and gut microbiomes correlate with health in the elderly. Kuchel, in turn, is working with JAX immunologist Jacques Banchereau to understand how the immune system alters as we age, and why some elderly are so healthy while others are so frail.<\/p>\n There are also collaborations that focus more on computational biology tools. For example, UConn mathematician and computational medicine specialist Paola Vera-Licona and JAX\u2019s computational scientist Dugyu Ucar are working together on tools and software that can be used by scientists without a strong quantitative background. Their first tool applies network theory to Chromatin Interaction Analysis by Paired End-Tag sequencing, also known as ChIA-PET. Genomic scientists use ChiA-PET to track which regions of the genome interact with each other. Much like Ruan\u2019s attempt to map the genome physically, ChIA-PET helps researchers map it functionally. But ChIA-PET can yield so much data it can be overwhelming. Vera-Licona and Ucar want to make it easy for researchers to find patterns in the data. Their first attempt is Quin, which was designed by a student of theirs at UConn; the tool can be found online at quin.jax.org<\/a>.<\/p>\n Other collaborations between UConn and JAX researchers focus on everything from preemie baby microbiomes to single cell analysis of cancerous tumors. As the JAX faculty grows, the opportunities for collaboration will as well. And that should lead to\u00a0new medical treatments and scientific discoveries, a worthy return on Connecticut’s investment.<\/p>\n","protected":false},"excerpt":{"rendered":" ‘Real, impactful science is teamwork,’ says JAX Genomic Medicine director Charles Lee. <\/p>\n","protected":false},"author":79,"featured_media":110556,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_crdt_document":"","wds_primary_category":0,"wds_primary_series":0,"wds_primary_attribution":0,"footnotes":""},"categories":[2231,1868,179,2233],"tags":[],"magazine-issues":[],"coauthors":[1899],"class_list":["post-110503","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-health-well-being","category-meds","category-uconn-health","category-university-news"],"pp_statuses_selecting_workflow":false,"pp_workflow_action":"current","pp_status_selection":"publish","acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-26 21:28:43","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/110503","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/comments?post=110503"}],"version-history":[{"count":15,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/110503\/revisions"}],"predecessor-version":[{"id":110637,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/110503\/revisions\/110637"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media\/110556"}],"wp:attachment":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media?parent=110503"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/categories?post=110503"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/tags?post=110503"},{"taxonomy":"magazine-issue","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/magazine-issues?post=110503"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/coauthors?post=110503"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}![\"Yijun](\"https:\/\/today.uconn.edu\/wp-content\/uploads\/2016\/03\/JAXRuanTourBW160315a128.jpg\")
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