Chicago Center for Jewish Genetics Disorders - Health Professionals

Professional Links and Resources

Professional Sites:

Associations
Disease-Specific
Mutation Databases
Other Links
Quick Tips and Handy References

Associations

American Academy of Pediatrics Journal
http://www.pediatrics.org

American Board of Genetic Counseling
http://www.faseb.org/genetics/abgc/abgcmenu.htm

American College of Medical Genetics
http://www.acmg.net

American Medical Association
http://www.ama-assn.org

American Public Health Association
http://www.apha.org/

American Society of Human Genetics
http://www.faseb.org/genetics/ashg/ashgmenu.htm

Association of Public Health Laboratories
http://www.aphl.org

Federation of American Societies for Experimental Biology
http://www.faseb.org

Genetics Societies
http://www.faseb.org/genetics/

Foundation for Genetic Education & Counseling
http://www.fgec.org

National Society of Genetic Counselors, Inc.
http://www.nsgc.org/

National Coalition for Health Professional Education in Genetics
http://www.nchpeg.org

Disease-Specific

Bloom Syndrome:

BLMbase: Mutation Registry for Bloom Syndrome
http://bioinf.uta.fi/BLMbase/index2.html

Fanconi Anemia:

Fanconi Anemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/

Gaucher Disease:

Gaucher Disease Treatment Program at Massachusetts General Hospital
http://gaucher.mgh.harvard.edu/

Gaucher Registry
http://www.gaucherregistry.com/

GeneDis web site for Gaucher
Includes the wild type primary sequences of the GBA and PSAP genes and proteins. Known mutations are incorporated in the genes and in the proteins sequences using hyperlinks. Users can compare GBA and PSAP DNA or protein sequences to the wild type hyperlinked sequences present in GeneDis.
http://www.tau.ac.il/~racheli/genedis/gaucher/gaucher.html

Niemann-Pick Type A and B

International Center for Types A and B Niemann-Pick Disease - Mount Sinai School of Medicine
http://www.mssm.edu/niemann-pick/

Other Jewish Genetic Diseases through the Chicago Center for Jewish Genetic Disorders Site

Bloom Syndrome
Canavan Disease
Factor XI Deficiency
Familial Dysautonomia (Riley-Day syndrome)
Fanconi Anemia
Gaucher Disease
Mucolipidosis IV
Niemann-Pick Disease
Non-Classical Adrenal Hyperplasia
Nonsyndromic Hearing Loss
Tay-Sachs Disease
Torsion Dystonia
Breast Cancer (BRCA1 and BRCA2)
Familial Colon Cancer
Beta-thalassemia
Familial Mediterranean Fever
Glucose-6-phosphate dehydrogenase deficiency
Type III Glycogen Storage disease.

Other Links

123 Genomics
Genomic and bioinformatic resources. Links to anything and everything genetic that your heart may desire.
http://123genomics.homestead.com/files/home.html

Bio.com: Research and Industry News on Biotechnology
Includes sections on bioethics, taxes, intellectual property, and represents cutting-edge biotech companies and universities. Very comprehensive.
http://bio.com/

Breast Cancer Research
A multi-disciplinary, online journal with peer-reviewed biological research, reviews and opinions relevant to breast cancer research. Focus is genetics, biochemistry, and cell biology with free access to research articles.
http://breast-cancer-research.com/

Cancer Detection and Prevention Online
http://www.cancerprev.org

Cancer Network
http://www.cancernetwork.com

CDC Office of Genomics and Disease Prevention
http://www.cdc.gov/genomics/

Entrez Search and Retreival System - NCBI
Entrez is a retrieval system for searching several linked databases. It provides access to: biomedical literature (PubMed), nucleotide sequence database (Genbank), protein sequence database, three-dimensional macromolecular structures, complete genome assemblies, population study data sets, OMIM: Online Mendelian Inheritance in Man, online books, gene expression and microarray datasets, markers and mapping data, and single nucleotide polymorphisms.
http://www3.ncbi.nlm.nih.gov/Entrez/
National Center for Biotechnology Information
http://www.ncbi.nlm.nih.gov/

GeneTests-GeneClinics
The GeneTests�GeneClinics website is a publicly funded medical genetics information resource developed for health professionals and researchers, and is free to use (although you must register). The site includes: Expert-authored, peer-reviewed, disease-specific articles about genetic testing and genetic counseling of patients and families with hereditary disorders; a database of US and international laboratories performing genetic testing, searchable by disease name, gene, OMIM number, lab location, disease feature, services, and director; a database of US and international clinics providing genetic counseling, searchable by geographic location, service provided, and specialty; and materials on the use of genetic services, teaching materials for genetics professionals, and a glossary of terms.
http://www.geneclinics.org
http://www.genetests.org

Gene Letter and Gene Sage
A site with very useful articles, many bioethical, on subjects we at the Center follow closely. An online-journal on genetic screening and genetic disorders written by a panel of doctors with areas of expertise in fetal and neonatal genetics, pediatrics, ob/gyn, human genetics, genetic testing, clinical genetics, and other related fields. Unfortunately, this journal is no longer being published online, however, all the archived articles are accessible.
http://www.geneletter.com
GeneSage is a commercial site with products for genetic professionals. Their goal is to translate the promise of genomics into practical solutions for health professionals and consumers. GeneSage gives users a place to answer sensitive questions, access genetic testing, safely store information and act to promote health.
http://www.genesage.com/

Hum-Molgen: International Communication Forum in Human Molecular Genetics
A large and comprehensive internet source for the latest information in HUMan MOLecular GENetics. They have more than 8,000 subscribers and provide users with an opportunity to communicate with scientists, physicians and other genetics professionals worldwide.
http://www.hum-molgen.de/
http://www.hum-molgen.de/main.php3

OMIM: The Online Mendelian Inheritance in Man - at NCBI
http://www3.ncbi.nlm.nih.gov/Omim/

PUBMED
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi

Mutation Databases

HGMD: The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff
http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html

EMBL-EBI: European Bioinformatics Institute
European Bioinformatics Institute (EBI) is a center for research and services in bioinformatics. The Institute manages databases of biological data including nucleic acid, protein sequences and macromolecular structures.
http://www2.ebi.ac.uk/

Familial Cancer Database (FaCD) - from University Hospital Groningen, The Netherlands/Union International Contre le Cancer (UICC)
FaCD is a stand-alone computer program, designed to run on a personal computer. The program tries to match the tumor features (malignant or benign tumors) and other features observed in a patient and his or her family with the profiles of the disorders stored in the database. Available for free, FaCD is a clinical tool intended for use by health care professionals with at least a basic working knowledge of clinical cancer genetics.
http://facd.uicc.org

GeneCards
GeneCards^TM is a database of human genes, their products and their involvement in diseases. It offers concise information about the functions of many human genes. The site is particularly useful for people who wish to find information about genes of interest in the context of functional genomics and proteomics.
http://bioinformatics.weizmann.ac.il/cards/

Quick Tips and Handy References

2002 Physicians Guide to Jewish Genetic Disorders and Screening (pdf)

2004 Practical Guide to Prescribing Genetic Testing for Children and Adults of Ashkenazi Jewish Descent