CBMi Press Releases

Proband Pedigree Drawing iPad App from CHOP’s Center for Biomedical Informatics Debuts

Philadelphia, March 21, 2014 - Long before next-generation sequencing technology ushered in today’s data-intensive era of human genome information, clinicians have been taking family histories by jotting down pedigrees: hand-drawn diagrams recording how diseases may recur across generations, and offering clues to inheritance patterns.

Now healthcare providers can create those diagrams digitally on an iPad® screen with a few finger taps, during a face-to-face encounter with an individual and his or her family. Users can store the pedigrees in a standardized format, make corrections flexibly as they gather new information, and export the diagrams so they can be used in other applications such as electronic medical records.

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CHOP’s Harvest Toolkit Offers Innovative Data Discovery Resource for Biomedical Researchers

Philadelphia, October 16, 2013 - Biomedical researchers often confront large quantities of information that may be amassed in many forms: vital signs, blood cell counts, lengthy DNA sequences, bar graphs, MRIs, patient demographics, and so much more. How do researchers assemble, access and analyze all that data without having to become specialized database technicians themselves?

A team of informatics experts and biomedical researchers at The Children’s Hospital of Philadelphia (CHOP) offers a new software toolkit to help researchers wrangle data. Their open-source, highly interactive framework called Harvest (http://harvest.research.chop.edu) is designed to let users to navigate quickly among different types and levels of data.

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Newborn Screening Project Aims to Help Transform Treatments for Genetic Diseases Detected at Birth

Philadelphia, January 17, 2012 - Now a pediatric research project plans to strategically expand the data collection linked to newborn screening results, aiming to open up broad opportunities to develop new ways to screen for and treat childhood diseases. Many existing therapies for rare childhood diseases are seriously limited, while screening tests and treatments remain to be discovered for many other congenital disorders not currently included in newborn screening. The Center for Biomedical Informatics at The Children's Hospital of Philadelphia Research Institute is developing tools to store long-term clinical data on children with conditions picked up in the screening tests. The goal is to harness the power of numbers—using clinical data from many patients over years of their lives as a resource for researchers seeking new and better tests and treatments.

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CBMi Contributions: New Gene Study of ADHD Points to Defects in Brain Signaling Pathways

Philadelphia, Dec. 4, 2011 –Pediatric researchers analyzing genetic influences in attention-deficit/hyperactivity disorder (ADHD) have found alterations in specific genes involved in important brain signaling pathways. The study raises the possibility that drugs acting on those pathways might offer a new treatment option for patients with ADHD who have those gene variants—potentially, half a million U.S. children.

The study appears online in Nature Genetics.

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CBMi, CHOP, Among Recipients of an NHGRI Four-Year Clinical Sequencing Exploratory Research Project Award

Philadelphia, Dec. 6, 2011 - The Children’s Hospital of Philadelphia is one of five U.S. centers, and the only one focusing on pediatrics, to receive a new four-year Clinical Sequencing Exploratory Research Project award. Children’s Hospital will receive $2.2 million per year for four years. The National Human Genome Research Institute (NHGRI) announced the grant today as part of an intensified focus on the medical applications of its flagship Genome Sequencing Program.

As part of the grant, CBMi's project "Sequencing, Analysis and Interpretation of Sequencing Data" aims to build a framework for systematically assessing the gene sequence data we collect, to integrate the data with medical care.

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