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Top 7 Discoveries at Cincinnati Children's Featured in Research Annual Report

Top 7 Discoveries at Cincinnati Children's Featured in Research Annual Report

$222.5M in Funding Leads to Dozens of Discoveries, Including Genes Linked to Preterm Birth, Mono Virus May Contribute to Multiple Diseases, and Community-Wide Improvements in Asthma Outcomes

Monday, January 07, 2019

From basic science discoveries that could transform healthcare in years to come to clinical trials and quality improvements helping children right now, the growing team of scientists at Cincinnati Children’s made many important differences in the past year.

Our 2018 Research Annual Report features the most significant discoveries from more than 50 research divisions, including cancer, heart care, developmental biology, human genetics, surgery, brain sciences and more. The featured works were chosen by Cincinnati Children’s research leaders from more than 2,000 peer-reviewed findings published in FY18 (ended June 30), including many that appeared in the world’s top medical and science journals.

These attainments were fueled by a second straight record year of research funding, which exceeded $222 million. The largest source of support was the National Institutes of Health. Other sources included other federal and state agencies, non-profit foundations, private donors, and industry.

“This powerful flow of progress has been possible because our faculty exemplify all the benefits of team science within our walls and are highly sought collaborators with colleagues worldwide,” says Margaret Hostetter, MD, Chair, Department of Pediatrics, and Director, Cincinnati Children’s Research Foundation.

Many of the discoveries described in the report are moving into various stages of business development to help bring life-improving medicines, devices, tests and software to the public. In addition to several spinoff ventures, Cincinnati Children’s filed 119 new invention disclosures in FY18.

In this year's report, research leaders at Cincinnati Children's named seven discoveries as the most significant breakthroughs of the year based on various factors including scientific impact:

Preterm Birth: Six Gene Loci Associated with Gestational Duration

In addition to smoking, obesity, high blood pressure and other unhealthy lifestyles, scientists have long suspected that genetic factors also play a role in triggering preterm birth. But for many years, few verifiable suspect genes had emerged. Now a study published in the New England Journal of Medicine has opened the door. Experts based here worked with scientists in three other countries and the company 23andMe to gather and analyze genetic data from more than 50,000 women. The team found six genetic needles in this haystack of data that appear to be strongly associated with the length of pregnancy and a mother’s chances of enduring preterm birth.

Autoimmune Disease: Epstein-Barr Virus Linked to Seven Serious Diseases

Another study, published in Nature Genetics, delves into the disease-triggering influences of gene-controlling proteins known as transcription factors. The study reports that the common “mono” virus actually rewrites portions of the human genetic code, which could place some people at increased risk for one of seven other well-known conditions: lupus, multiple sclerosis, celiac disease, inflammatory bowel disease, type 1 diabetes, rheumatoid arthritis, and juvenile idiopathic arthritis. This study, led by experts in the Center for Autoimmune Genomics and Etiology (CAGE), involved developing unique software tools that also revealed transcription factor clusters at work in more than 90 other diseases.

Cancer: Cracking the Genetic Code of Malignant Peripheral Nerve Sheath Tumors

Members of the Cancer and Blood Diseases Institute here drilled deeply into the genetic profile of a rare form of cancer that attacks nerves throughout the body. Their efforts to understand how runaway cell growth occurs in these tumors, published in Cancer Cell, led to identifying a combination of existing drugs that might show benefit in slowing the progress of this hard-to-control condition.

Developmental Biology: Nerve Pruning in Mice Sheds Light on Human Fine Motor Control

Some investigators here study every detail of how bodies form, seeking clues to understand normal development, birth defects, and early signs of life-long diseases. In a study published in Science, researchers discovered an intriguing thing about mice: They are born with highly dexterous front paws, bristling with nerve connections in their brains. But over time, they turn off certain genes that effectively prune back fine motor control to make it easier to run on all fours. This study suggests that reversing the nerve-pruning process (if possible) could improve poor motor control for some people.

Liver Disease: How Some Liver Cells Switch Identities to Build Missing Bile Ducts

Our livers heal themselves faster than nearly any other organ. How do they do that? By studying a rare disease called Alagille syndrome, in which children are born with a lack of bile ducts, experts here discovered that the liver does not have to wait for stem cell factories to manufacture new cells to make repairs. In a study published in Nature, researchers report that the liver can command cells to simply switch identities when shortfalls occur, much like turning bricks into pipes. If further research finds a way to control this process, it could help people with bile duct disorders avoid the need for expensive, hard-to-get liver transplants.

Asthma Care: Hospitals, Clinics, Schools Team Up to Improve Asthma Outcomes

Discovering a better medication is only one step in fighting a disease. Finding ways to make sure the best treatments actually reach those who need them has become a field of study unto itself. For children with asthma, researchers here documented sharp neighborhood-level differences in how often children needed emergency hospital care, and how soon they needed to come back. A study published in JAMA Pediatrics shows that teaming up with community partners on a three-phased improvement plan slashed return visits by more than 40 percent.

Immunology: ‘Thermoneutral’ Mouse Model Opens Doors for Obesity Research

For many years, scientists have struggled to breed mice that accurately reflect how obesity can trigger nonalcoholic fatty liver disease (NAFLD), the world’s most common form of chronic liver disease. Turns out that warmer mice produce better results. When provided housing at temperatures they prefer (about 86° F) the mice exhibited the metabolic changes and immune responses that occur in obese humans—including NAFLD induced in female mice. This discovery, published in Nature Medicine, also could influence research in other diseases where mouse studies have been disappointing.