Your patients benefit when you know how to talk about Sephardic Jewish genetic disorders and hereditary conditions. SHORE provides a number of valuable resources, including the online resources below, in-print brochures and in the future educational programs to educate community healthcare professionals.
To learn more about Genetics and how it relates to the Sephardic & Iranian Jewish ethnicity visit our collection of resources below:
Overview Articles1. Ostrer H (2001): A genetic profi le of contemporary Jewish populations. Nat Rev Genet 2:891-898.
2. Zlotogora J, Bach G, Munnich A (2000): Molecular basis of Mendelian Disorders among Jews. Molec Genet Metab 69:169-180.
Disorders1. Pseudocholinesterase deficiency
a. Szeinberg A, Pipano S, Assa M, Medalie J, Neufeld H (1972): High frequency of atypical pseudocholinesterase gene among Iraqi and Iranian Jews. Clin Genet 3:123-127.
b. Neville L, Gnatt A, Padan R, Seidman S, Soreq H (1990): Anionic site interactions in human butyrylcholinesterase disrupted by two adjacent single point mutations. J Biol Chem 265:20735-20738.
2. Congenital hypoaldosteronism
a. Cohen T, Rosler T (1977): Selective hypoaldosteronism in Iranian Jews: an autosomal recessive trait. Clin Genet 11:25-30.
b. Pascoe L, Curnow K, Slutsker L, Rosler A, White P (1992): Mutations in the human CYP11B2 (alderosterone synthetase) gene causing corticosterone methyloxydase II defi ciency. Proc Natl Acad Sci USA 89:4996-5000.
3. Polyglandular deficiency
a. Zlotogora J, Shapiro M (1992): Polyglandular autoimmune syndrome in Iranian Jews. J Med Genet 29:834-836.
b. Bjorses P (1996): Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet 59:879-886.
4. Hereditary inclusion body myopathy
a. Argov Z, Yaron R (1984): “Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 64:33-44.
b. Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman C, Seidman J (1996): Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet 5:159-163.
AssociationsAmerican Board of Genetic Counseling
The ABGC protects the public and promotes the ongoing growth and development of the genetic counseling profession by establishing the standards of competence for clinical practice through accreditation of graduate programs in genetic counseling advancing the role of genetic counselors in healthcare through the certification and recertification of qualified professionals.
American College of Medical Genetics
The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases.
American Medical Association
The AMA helps doctors help patients by uniting physicians nationwide to work on the most important professional and public health issues.
American Public Health Association
APHA aims to protect all Americans and their communities from preventable, serious health threats and strives to assure community-based health promotion and disease prevention activities and preventive health services are universally accessible in the United States.
American Society of Human Genetics
The ASHG is the primary professional membership organization for human genetics specialists worldwide, including researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics.
Association of Public Health Laboratories
The APHL serves as laboratory first responders, protecting the public from diseases and environmental health hazards. Avian influenza, anthrax, contaminated water and E. coli have all been the subject of their investigations.
Federation of American Societies for Experimental Biology
The FASEB has consistently provided educational meetings and publications to disseminate biological research results. Find genetics resources here.
Foundation for Genetic Education & Counseling
The FGEC is dedicated to raising the understanding of human genetics and genetic medicine among the general public and their health professionals. National Coalition for Health Professional Education in Genetics
The 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.
National Society of Genetic Counselors
This site provides a directory of genetic counselors as well as a variety of other resources.
Pediatrics: The Journal of American Academy of Pediatrics
This site provides archives and articles from the official AAP publication.
Mutation DatabasesEMBL-EBI: European Bioinformatics Institute
The 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.
Familial Cancer Database
The goal of the FaCD is to assist clinicians and genetic counselors in making a genetic differential diagnosis in cancer patients, as well as in becoming aware of the tumor spectrum associated with hereditary disorders that have already been diagnosed in their patients.
This is a searchable, integrated database of human genes that provides concise genomic, proteomic, transcriptomic, genetic and functional information on all known and predicted human genes.
The Human Gene Mutation Database
The HGMD 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 researchers and diagnosticians in human molecular genetics, physicians interested in a particular inherited condition in a given patient or family, and genetic counselors. This site provides information in a number of languages.
Universal Mutation Database
The UMD software was developed not only to create various locus-specific mutation databases (LSDBs) but also numerous analyzing tools.
Other Links123 Genomics
Find most of the freely available internet resources related to genomics and bioinformatics in one central clearinghouse.
Biotechnology Industry Organization
BIO is the world's largest biotechnology organization, providing advocacy, business development and communications services for more than 1,200 members worldwide.
Bioethics for Clinicians
This Canadian Medical Association Journal article outlines Jewish bioethics views and offers additional related resources.
Breast Cancer Research
This is a multi-disciplinary, online journal with peer-reviewed biological research, reviews and opinions relevant to breast cancer research. The focus is on genetics, biochemistry and cell biology with free access to research articles.
The Cancer Network site provides a wealth of information and access to a number of publications.
Centers for Disease Control Office of Public Health Genomics
The OPHG promotes the integration of genomics into public health research, policy and practice in order to improve the lives and health of all people. Public health genomics is an emerging field that assesses the impact of genes and their interaction with behavior, diet and the environment on population health. This site also provides weekly updates about the impact of human genomic research on disease prevention and population health
Entrez Search and Retrieval System
Entrez is a retrieval system for searching several linked databases. It provides access to a wide array of technical information, including 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.
The GeneTests site is a publicly funded medical genetics information resource developed for physicians, other health care providers and researchers, available at no cost to all interested persons.
Genetics/Genomics Competency Center for Education
G2C2, a service from the University of Virginia, makes freely available an open source repository of curricular materials and resources designed to provide nursing and physician assistant educators the tools with which to prepare their students to meet the discipline specific competencies in this area of health care.
Hum-Molgen: International Communication Forum in Human Molecular Genetics
This site is 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.
International Society for Preventive Oncology
ISPO is the forum of an international membership committed to the study of factors in cancer development and their impact on prevention, detection and management of various cancers.
OMIM: The Online Mendelian Inheritance in Man
OMIM is a comprehensive, authoritative and timely compilation of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype.