Medical

applied genomics

applied genomics

Molecular genetics Molecular medicine The use of genetic information to diagnose, prognosticate and manage disease, based on the techniques of PCR, real time-PCR, DNA sequencing, and gene rearrangement studies for leukemia and lymphoma. See Gene rearrangement, Genetics, In situ hybridization, PCR.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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References in periodicals archive
Stephen Scherer, research director of MSSNG, and director of the Centre for Applied Genomics at Toronto's Hospital for Sick Children (SickKids) and the McLaughlin Centre at the University of Toronto.
Together, the companies have developed a collaboration framework to advance preclinical programs into the clinic, leveraging Aevi Genomic Medicine's expertise in rare and orphan pediatric diseases, and its ongoing collaboration with Children's Hospital of Philadelphia ("CHOP") and the biobank at the Center for Applied Genomics at CHOP.
Aevi Genomic Medicine and Kyowa Hakko Kirin have developed a collaboration framework to advance preclinical programs into the clinic, leveraging Aevi Genomic Medicine's expertise in rare and orphan pediatric diseases, and its ongoing collaboration with Children's Hospital of Philadelphia (CHOP) and the biobank at the Center for Applied Genomics at CHOP.
[1] Duke Center for Applied Genomics and Precision Medicine, Durham, NC.
Hakon Hakonarson, M.D., Ph.D., professor and director of the Center for Applied Genomics at The Children's Hospital of Philadelphia founded neuroFix to pursue development of NFC-1 following a breakthrough genetic discovery.
"This work provides an important second gene variant associated with sleep deprivation and for the first time shows the role of BHLHE41 in resistance to sleep deprivation in humans," said lead author Renata Pellegrino, PhD, senior research associate in the Center for Applied Genomics at The Children's Hospital of Philadelphia.
The conference - regarded as one the top scientific gathering for genome sciences - is designed to share ground-breaking research in basic and applied genomics and to advance new approaches to sequencing and bioinformatics.
Stephen Scherer, senior scientist and director of the Centre for Applied Genomics at The Hospital for Sick Children (SickKids) and director of the McLaughlin Centre at the University of Toronto, said.
He was also the Chief Scientific Officer for the British Columbia Provincial Health Service Authority's Centre for Translational and Applied Genomics where he gained exposure to molecular diagnostics across the full range of clinical applications.
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