Useful
Genetics Web links
Genetics
knowledge - clinical and scientific - is expanding so rapidly that one has to
rely on international databases to make sure that patients have the most
up-to-date information. We hope
that you will find the following to be useful links - some to increase your
basic genetic knowledge, others for their interest and some to explain what the
speciality of clinical genetics can offer! Some of the links will be helpful at later stages in the
medical course. If you find any links
which you think would be helpful for other students please email Professor
Farndon (p.a.farndon@bham.ac.uk)
Current headings
include:
Genetics
databases
Aids
to learning genetics/genetics information
Professional organisations and careers in genetics
Ethical issues
Genetic policy information
Information for patients about genetic diseases
Genetics
databases
OMIM –
On-line Mendelian inheritance in man.
This is a
catalogue of all Mendelian disorders in humans, instigated by Dr Victor
McKusick, Johns Hopkins Hospital.
http://www.hgmp.mrc.ac.uk/omim
GeneCards
is a database of
human genes, their products and their involvement in diseases. It offers
concise information about the functions of all human genes.
http://bioinformatics.weizmann.ac.il/cards/
GeneClinics
is a clinical information resource relating genetic testing
to the diagnosis, management, and genetic counseling of individuals and
families with specific inherited disorders.
Human Gene
Mutation Database (HGMD)
is a
comprehensive reference source of the various types of mutation reported to
cause inherited disease within the coding regions of human nuclear genes.
http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html
Public Health
Genetics Unit
provides news and
information about advances in genetics and their impact on public health and
the prevention of disease. Its information database has reports, summaries,
literature references and other information about the genetic basis of disease,
genetic testing and screening, policy development for genetic services, and the
ethical issues surrounding the new genetics
http://www.phgu.org.uk/index.php
Aids to learning
genetics/genetics information
DNA from the
Beginning
is an online learning
text, organized around key concepts of classical genetics, molecules of
genetics and genetic organisation and control. The science behind each concept is explained by animation,
images, video interviews, problems, biographies, and external links
http://vector.cshl.org/dnaftb/
Clinical
Genetics: A Self Study for Health Care Providers .
This self study
guide from the United States has two sections: the first consists of four
lessons designed to increase knowledge about genetics and assist in your
identifying families for genetic referral. The second section covers reasons
for referral, a glossary, a list of resources, and educational tools to use
when working with patients and their families
http://www.vh.org/Providers/Textbooks/ClinicalGenetics/Contents.html
US National Center for biotechnology information
– information about the progress
of the human genome mapping.
http://www.ncbi.nlm.nih.gov/genome/seq/HsHome.shtml
Human Genome
Project (HGP)
An international
research effort to characterize the genomes of human and selected model
organisms, to develop technologies for genomic analysis, to examine the
ethical, legal, and social implications of human genetics research, and to
train scientists to pursue biological studies that will improve human health.
Information on the Human Genome from the United States National Institutes of
Health:
http://www.nhgri.nih.gov/100001772
Blazing a
genetic trail
Colourful online
publication (from the Howard Hughes Medical Institute) on how genetic research
is helping to cure disease, including personal stories, Human Genome Project,
guide to basic genetics.
http://www.hhmi.org/genetictrail
Professional
organisations and careers in genetics
British Society for Human Genetics is the UK's professional society for clinical and research medical geneticists. The website has details of conferences and training courses, policy statements on genetic testing of children and on patents, a list of UK genetics centres, and links. If you are interested in a career in medical genetics, think about joining the BSHG.
A career in
clinical genetics?
Interested in
finding out what the postgraduate training programme is to become a clinical
geneticist? Visit the Joint
Committee on Higher Medical Training Curriculum site
http://www.jchmt.org.uk/clingen/index.asp
What is the
role of a clinical geneticist? The Clinical Genetics Society has defined the role
http://www.bshg.org.uk/official
docs/clingenrole.htm
European
Society of Human Genetics
An international
professional society which promotes research in basic and applied human and
medical genetics and facilitates contact between all who share these aims. It organises the annual European Human
Genetics Conference, publishes the prestigious European Journal of Human
Genetics, and has an active Public and Professional Policy Committee which has
recently issued statements on Genetic Screening, Genetics and Insurance, DNA
banking and Genetic Services in Europe.
Ethical
issues
Your Genes, Your Choices: Exploring the Issues Raised by
Genetic Research
Describes the
Human Genome Project, the science behind it, and the ethical, legal, and social
issues that it raises.
http://www.ornl.gov/hgmis/publicat/genechoice/index.html
Nuffield
Council on Bioethics
has set up a
Working Party on the ethics of research into genetics and human behaviour. A previous report considered the
ethical issues of genetic screening.
http://www.nuffield.org/bioethics/index.html
Genetic Policy Information
UK: Human
Genetics Commission
is the UK Government's
advisory body on how new developments in human genetics will impact on people
and on health care. Its remit is
to give Ministers strategic advice on the "big picture" of human
genetics, with a particular focus on social and ethical issues.
International:
Centre for Public Law Research at the University of Montreal
The HumGen site
aims to provide information on a wide range of legislation, policy, guidelines
and recommendations of government and non-government organisations worldwide.
http://www.humgen.umontreal.ca/intro.htm
Information
for patients about genetic diseases
Contact-a-Family
The umbrella
group listing many UK patient support groups
Genetics
Interest Group
GIG is a national organisation representing over 120 charities supporting children, families and individuals affected by genetic disorders / genetic diseases. Its primary goal is to promote awareness and understanding of genetic disorders. The website has video clips of patients discussing the impact of diagnosis, being positive about life, discrimination and stigma, understanding and public awareness and the future prospects of research.
(PF, 06.02.04)