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 (


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.



is a database of human genes, their products and their involvement in diseases. It offers concise information about the functions of all human genes.



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.


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


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


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

US National Center for biotechnology information

 – information about the progress of the human genome mapping.


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:


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.



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


What is the role of a clinical geneticist? The Clinical Genetics Society has defined the role 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.




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.



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.



Information for patients about genetic diseases


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)