CBMi Bioinformatics Core Relaunches Mitomaster with New interface and Functionality

Under the guidance of the Wallace lab at CHOP's Center for Mitochondrial and Epigenomic Medicine, developers in the CBMi Bioinformatics Core have updated and relaunched the Mitomaster tool to add new functionality and a new user interface. Dr. Douglas Wallace will be presenting Mitomaster at the Paris UNESCO conference June 11, 2012.


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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Care Assistant Provides Clinical Decision Support for Immunizations and More

Developed by CBMi, Care Assistant provides clinical decision support using a web-service that functions independently of the vendor supplied electronic health record (EHR).