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Guides & Tutorials: Genetic Counseling
Resource Guide
This
pathfinder is intended to be used as a resource guide for genetic
counseling students and professionals. While not an exhaustive list
of available genetic counseling resources,
it should serve as a springboard for initial and further research
in the field.
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Medical
Subject Headings, or MeSH, provide a
way to search all articles or books on a topic by using one
phrase to describe that topic. MeSH are created and updated
by the National Library of Medicine. They are part of a hierarchy
that links related MeSH terms together. MeSH is used when
searching MEDLINE and NUcat.
Useful
MeSH terms in genetic counseling include:
| Abnormalities |
Genetic services |
| Chromosome
aberations |
Genetic
screening |
| Chromosome disorders |
Genetic
techniques |
| Embryology |
Genetics,
medical |
| Eugenics |
Hereditary
diseases |
| Genetic
counseling |
Prenatal
diagnosis |
| Genetic predisposition to disease |
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| Literature-based Genetic Databases |
GeneTests' Gene Reviews
GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Many genetic counselors use Gene Reviews every day. |
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OMIM-Online
Mendelian Inheritance in Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders. OMIM focuses primarily on inherited, or heritable, genetic diseases. It is also considered to be a phenotypic companion to the human genome project. |
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| Human Genome Studies, Search Tools & Databases |
Genome
Database (GDB)
The official world-wide database for the annotation of the human genome.
Hosted by RTI International, North Carolina USA |
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dbGaP
The database of Genotype and Phenotype (dbGaP) was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits. |
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NUGene Project (Northwestern)
NUGene collects and stores DNA samples along with healthcare information from patients of Northwestern-affiliated hospitals and clinics. This resource is made available to scientists for research purposes. |
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| Demographic and Allelic Frequency |
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| Genes, Mutation and Disease - General |
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Genatlas
GENATLAS contains relevant information with respect to gene mapping and genetic diseases. GENATLAS is structured in three databases: Genes database, Phenotypes database, Citations database (linked to the two previous). The information is collected from published literature. |
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Genetic Alliance Disease InfoSearch
Disease InfoSearch contains info on advocacy support groups related to specific genetic conditions, information about the clinical features of a wide number of genetic conditions, updates on management, treatment and more. Information is provided the advocacy organizations which form Genetic Alliance. |
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GeneCards
GeneCards is an integrated database of human genes that includes automatically-mined genomic, proteomic and transcriptomic information, as well as orthologies, disease relationships, SNPs, gene expression, gene function, and service links for ordering assays and antibodies. |
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Genome Variation Server (GVS)
The Genome Variation Server (GVS) is a local database hosted by the SeattleSNPs Program for Genomic Applications (PGA). The objective of this database is to provide a simple tool for rapid access to human genotype data found in dbSNP, and to provide tools for analysis of genotype data. |
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Genes and Disease
Collection of articles
that discuss genes and
the diseases that they
cause. These genetic
disorders are organized
by the parts of the
body that they affect. |
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Human Gene Mutation Database (HGMD)
The Human Gene Mutation Database comprises various types of mutation within the coding regions, splicing and regulatory regions of human nuclear genes causing inherited disease. |
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GeneSeeker
A web server that gathers and combines data from a series of databases to identify genes underlying human genetic disorders. |
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| Genes and Disease - Specific Diseases and Cellular Processes |
AlzGene
The AlzGene database aims to provide a comprehensive, unbiased and regularly updated collection of genetic association studies performed on Alzheimer’s disease phenotypes. |
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HIV-1, Human Protein Interaction Database
The goal of this project is to provide scientists in the field of HIV/AIDS research a concise, yet detailed, summary of all known interactions of HIV-1 proteins with host cell proteins, other HIV-1 proteins, or proteins from disease organisms associated with HIV/AIDS. |
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Blood Group Antigen Gene Mutation Dabase
The Blood Group Antigen Gene Mutation Database (BGMUT) documents variations in genes that directly or indirectly affect our blood groups. It thus is a locus-specific mutation database (LSDB) that covers multiple genes. |
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Human Collagen Mutation Database
This database aims to record all published accounts of mutations in the genes encoding human collagen types I and III. Mutations of these collagen types result predominantly in osteogenesis imperfecta and Ehlers-Danlos syndrome type IV respectively. |
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BTKbase
Search for information on defects in the Bruton tyrosine kinase (BTK) gene, which causes agammaglobulinemia (XLA). |
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INFEVERS
The registry for FMF and hereditary inflammatory disorders mutations. An evolving mutation database for auto-inflammatory syndromes. |
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Cancer Genome Anatomy Project (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. Includes high-quality histology photos of tissue expression. |
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CarpeDB
CarpeDB serves as a novel source for epilepsy researchers by featuring scores of "epilepsy genes" and associated publications in one locus. Furthermore, multiple genes implicated in epilepsy are also implicated in other human disorders. |
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PDGene
The PDGene database aims to provide a comprehensive, unbiased and regularly updated collection of genetic association studies performed on Parkinson's disease (PD) phenotypes. |
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| Genome Browsers and Viewers |
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Ensembl Genome Browser
Ensembl is a joint project between EMBL - European Bioinformatics Institute (EBI) and the Wellcome Trust Sanger Institute (WTSI) to develop a software system which produces and maintains automatic annotation on selected eukaryotic genomes, along with browsing tools and sequence analysis tools. |
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UCSC Genome Browser
This site contains the reference sequence and working draft assemblies for a large collection of genomes. Also includes browsing and BLASTing tools. |
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| Policy, Professional Societies |
American
Board of Genetic Counseling
The American Board of Genetic Counseling (ABGC) serves as the official credentialing organization for the genetic counseling profession in the United States and Canada.
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Center for Medical Genetics
The Center for Medical Genetics is a private academic institute dedicated to providing comprehensive genetic testing services available for patients and physicians. Includes information pages for consumers and caregivers. |
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National Human Genome Research Institute (NHGRI) Policy and Legislation Database
The National Human Genome Research Institute (NHGRI) led the participation of the National Institutes of Health (NIH) in the International Human Genome Project (HGP). NHGRI directed and supported work on the sequencing of the human genome and now funds research on the genome's structure, function, and role in health and disease and supports studies on the ethical, legal and social implications (ELSI) of genome research.
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National Coalition for Health Professional Education in Genetics (NCHPEG)
Established in 1996 by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute, the National Coalition for Health Professional Education in Genetics ( NCHPEG ) is an "organization of organizations" committed to a national effort to promote health professional education and access to information about advances in human genetics. |
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National Society of Genetic
Counselors
The National Society of Genetic Counselors is the professional membership association for the genetic counseling profession. The Society promotes the professional interests of genetic counselors and provides a network for professional communications. Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of belonging to the NSGC. |
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| Other Tools and Resources |
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Genetics Home Reference
National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions. Includes information about genetic testing, gene therapy, and the Human Genome Project. |
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Talking Glossary
of Genetic Terms
The National Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research. |
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See
all E-Journals
for Genetics.
Search
online
catalog (NUcat) for electronic and print journals on any
subject.
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Check
the Core
Resource List for a list of required and recommended materials
in Anatomy/Embryology and Genetics
& Heredity (this list is not exhaustive).
To
find books at the Galter Library, you can search our online
catalog, NUcat,
using the MeSH terms above or search terms
of your choosing. Alternatively you can browse the book stacks
on Level 2 in the following call number areas:
QS
604 Embryology QZ 50 Medical Genetics; Genetic
Counseling
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