Pharmacogenetics

Pharmacogenetics Research Network (PGRN)
The NIH Pharmacogenetics Research Network (PGRN) was conceived to enable formation of a series of multi-disciplinary research groups funded to conduct studies addressing research problems in pharmacogenetics. These groups were united by the purpose of developing and populating a public database, which was envisioned as a tool for all researchers in the field. Funding of these awards began in 2000 and 2001. The investigators are “driven by the science,” and outside consultants who made recommendations in 2003 have stated that the network should strive to become “more than the sum of the parts.” Therefore, in anticipation of the steps to be taken by the PGRN to maximize its potential, NIH wants to clarify and amplify its goals.

Pharmacogenetics Knowledge Base (PharmGKB)
PharmGKB curates information that establishes knowledge about the relationships among drugs, diseases and genes, including their variations and gene products. Our mission is to catalyze pharmacogenomics research.

Inherited Arrhythmias Database This database is a repository of the genetic variations identified and published in the field of inherited arrhythmogenic diseases and cardiac ion channels. It was originally created in January 2000 as an initiative of Study Group on the Molecular Basis of Arrhythmias. After the Study Group terminated its activities the Web site continued to be regularly updated and edited thanks to the effort of the investigators of the Molecular Cardiology Laboratories directed by Dr Silvia G Priori at the IRCCS Fondazione Salvatore Maugeri (Pavia, Italy).

Torsades.org
This is an independent research and education center whose mission is to improve therapeutic outcomes and reduce adverse events caused by drug interactions and drugs that prolong the QT interval, especially those affecting women. The Arizona CERT is a program of the Critical Path Institute in collaboration with The University of Arizona College of Pharmacy. We are one of 14 national CERTs funded by the U.S. Agency for Healthcare Research and Quality (AHRQ).

NCBI dbSNP
In collaboration with the National Human Genome Research Institute, The National Center for Biotechnology Information has established the dbSNP database to serve as a central repository for both single base nucleotide subsitutions and short deletion and insertion polymorphisms.

GeneSNPs
This Environmental Genome Project web resource integrates gene, sequence and polymorphism data into individually annotated gene models. The human genes included are related to DNA repair, cell cycle control, cell signaling, cell division, homeostasis and metabolism, and are thought to play a role in susceptibility to environmental exposure.

International HapMap Project
The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.

Human Genome Variation Database (HGVBase)
The Human Genome Variation database of Genotype-to-Phenotype information (HGVbaseG2P) provides a centralized compilation of summary level findings from genetic association studies, both large and small. We actively gather datasets from public domain projects, and encourage direct data submission from the community.

Human Gene Mutation Database (HGMD)
The Human Gene Mutation Database (HGMD) represents an attempt to collate known (published) gene lesions responsible for human inherited disease. This database, whilst originally established for the study of mutational mechanisms in human genes (Cooper and Krawczak 1993), has now acquired a much broader utility in that it embodies an up-to-date and comprehensive reference source to the spectrum of inherited human gene lesions. Thus, HGMD provides information of practical diagnostic importance to (i) researchers and diagnosticians in human molecular genetics, (ii) physicians interested in a particular inherited condition in a given patient or family, and (iii) genetic counsellors.

Cancer Genome Anatomy Project SNP500 Cancer Database (CGAP)
The goal of the NCI's Cancer Genome Anatomy Project is to determine the gene expression profiles of normal, precancer, and cancer cells, leading eventually to improved detection, diagnosis, and treatment for the patient. By collaborating with scientists worldwide, CGAP seeks to increase its scientific expertise and expand its databases for the benefit of all cancer researchers.