Tuesday, February 28, 2006

UK Lowe Syndrome Trust

Lowe Syndrome (OCRL) is a devastating genetic disease that affects thousands of little boys born worldwide born with cataracts (either blind or partially sighted), stunted growth, poor muscle tone, rickets, scoliosis, arthritis (some never walk), kidney problems and mental impairment. In spite of these handicaps the little boys have extremely happy and cheeky personalities. Sadly, few survive to become adults.

For more information please visit.


Gaucher Disease

I don't know much about this genetic disease.


Sunday, February 26, 2006

The Haemochromatosis Society

Haemochromatosis, or GH (Genetic Haemochromatosis), is a genetic disorder causing the body to absorb an excessive amount of iron from the diet: the iron is then deposited in various organs, mainly the liver, but also the pancreas, heart, endocrine glands, and joints.

For more information please visit.


Saturday, February 25, 2006

The Association for Glycogen Storage Disease (UK)

To be honest information about thtis genetic disease does not make much sense to me. I would be grateful if someone can explain it. After all I am not a genetics expert.


Friday, February 24, 2006

Fatty Oxidation Disorders

Fatty Oxidation Disorders (FODs) are genetic metabolic deficiencies in which the body is unable to oxidize (breakdown) fatty acids to make energy because an enzyme is either missing or not working correctly. The main source of energy for the body is a sugar called glucose. Normally when the glucose runs out, fat is broken down into energy. However, that energy is not readily available to children and adults with an FOD. If undiagnosed and untreated, these disorders can lead to serious complications affecting the liver, heart, eyes and general muscle development, and possibly death.

This information was obtained from.


Thursday, February 23, 2006

Cystinosis Trust

It is a genetic disorder that affects only 1 in 200,000 babies.


Wednesday, February 22, 2006

Climb Congenital Adrenal Hyperplasia UK Support Group

This is a genetic disorder of which I don't know it's name or cannot even pronounce it.


Tuesday, February 21, 2006

Barth Syndrome Foundation

Barth Syndrome is a rare but serious genetic disorder that affects males. The characteristics (signs and symptoms) of Barth Syndrome consist of the following in varying degrees.

To read the rest of the information and find out more please visit


Monday, February 20, 2006

Contact a family

This is strictly speaking not a genetics group but they do offer a large amount of help to sufferers of genetic disorders.


The Alkaptonuria Society

The Alkaptonuria Society is a charity that raises awareness and seeks a cure for a rare and serious genetic disease, Alkaptonuria.


Sunday, February 19, 2006

Genetics Alliance

Genetic Alliance increases the capacity of genetic advocacy groups to achieve their missions and leverages the voices of millions of individuals and families living with genetic conditions.

For more details visit their site.


Saturday, February 18, 2006

Downs genetics

There is some very complicated stuff on the genetics of Downs Syndrome. Let me know if you can make sense of it.


Friday, February 17, 2006

Genetic discrimination in health insurance

This is a important issue as comapanies know more about our genetic makeup they can refuse insurance as certain people are more likely to get ill.


Genetic Discrimination.

The government's advisory body on genetics said yesterday that new legislation was needed to stop workplace and insurance discrimination on genetic grounds.

This is a good story about the consequences of knowing your genetic make up.


Thursday, February 16, 2006

Lords support UK first genetic database

Strong support for the Medical Research Council's proposal to establish a voluntary database containing the genetic details of 500000 individuals came this week from the House of Lords Select Committee on Science and Technology.


Wednesday, February 15, 2006

Genetic Characterization of Movement Disorders

Many movement disorders are familial and have an underlying genetic basis. These can be studied using recent advances in molecular genetics. Finding the genes involved will give us clues about the actual causes of movement disorders and will help us understand the forms of these diseases that aren't inherited. We are actively studying Parkinson's disease, dystonia, ALS, MSA, Ataxia, progressive supranuclear palsy, Tourette syndrome, Restless Legs Syndrome and other disorders


Genetics, ethics and theology

This is something I just came by let me know what you think.


The Association of Clinical Cytogeneticists

The Association of Clinical Cytogeneticists is the professional association for Clinical Cytogeneticists working in the UK. It is a specially authorised society for the advancement of science registered with the Registrar of Friendly Societies. Its registered office is at The British Society for Human Genetics Administrative Office, Clinical Genetics Unit, The Women's Hospital, Birmingham.


I am not sure what kind of genetic work they do.

Tuesday, February 14, 2006

Genetic cause of Lafora found

Scientists at the Hospital for Sick Children have found the genetic cause of Lafora Disease. This is a fatal genetic disorder and one of the most severe forms of epilepsy. It is a extremely rare genetic disorder.


The Association of Genetic Nurses and Counsellors

The Association of Genetic Nurses and Counsellors is an organisation representing Genetic Associates, Nurses, Counsellors and other non-medical staff working within Clinical Genetics.


Monday, February 13, 2006

Tuberous sclerosis

Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant medical problems.

This is only the first of of a indepth paper to read more please visit.


Please note that I can only get so much information on genetics and I would be grateful if you could forward to me any genetic related material that you can find. After all I don't have the time to look for all the very specialist genetic material online.

Cancer Genetics Group

The purpose of the Cancer Genetics Group is to improve the quality of care of patients and their families with any condition resulting in hereditary tumours.


Understanding genetic testing

This is a very detailed site which goes into the inns and outs of genetic testing and explains the science for example things like genetic diseases.


Clinical Molecular Genetics Society

The aim of the Clinical Molecular Genetics Society (CMGS) is to advance the science of clinical molecular genetics and to further public education. We have a strong interest in promoting the quality of molecular genetic testing in the UK through training, education, research, data-collection and quality schemes.


Sunday, February 12, 2006

Clinical Genetics Society

The Clinical Genetics Society (CGS) was set up in 1970 to bring together doctors and other professionals involved in the care of individuals and families with genetic disorders, with the following aims: to advance and promote the science and practice of Clinical Genetics
to bring together workers who have a common interest in Clinical Genetics
to understand, prevent, cure and alleviate conditions with a genetic aetiology
to publish and disseminate reports, statements, and research findings

Since its creation, the CGS membership has increased steadily to over 400 members from around the world but principally in the UK. The aims have broadened, and now include:

promoting and facilitating education, for the genetics community and other health care professionals, those outwith the profession and the wider public
encouraging high standards of training for professionals within Clinical Genetics
facilitating research into basic human genetics and genetic disorders
maintaining excellent links with patient groups
continuing constructive dialogue with government and other politicians on genetics-related issues


The information was taken from it's website.

American Board of Medical Genetics

The purposes of the ABMG shall be: (a) to elevate the standards and advance the art and science of medical genetics by encouraging its study and improving its practice; (b) to conduct examinations to determine the qualifications of medical geneticists who voluntarily apply to the ABMG for certification as Diplomates; (c) to grant and issue Diplomate certificates in the field of medical genetics and its various specialty areas to those medical geneticists who have received adequate preparation in accordance with the ABMG's educational, training, and experience requirements, and who have passed the comprehensive Certification Examinations administered by the ABMG; (d) to maintain a registry of holders of such certificates; (e) to evaluate and accredit qualified training programs in the field of medical genetics; and (f) thereby, to improve the public health.


Genetic interest group

The home page for the Genetic Interest Group (GIG) a UK based national alliance of charitable organisations which supports children, families and individuals affected by genetic disorders. GIG aims to "promote awareness and understanding of genetic disorders in order that high quality services for people affected may be developed and sustained". This Web site provides information on regional genetic services, GIG policy documents, and educational resources which includes a glossary of genetic terms, and information aimed at a lay audience covering inheritance patterns of monogenic disorders, an introduction to genetics, incidence of genetic disorders, and genetic predisposition to common disorders

The GAPS index to Information on the Internet about genetic disorders and birth defects

Genetic Information and Patient Services (GAPS) is a US based non profit organisation providing free information on genetic disorders and birth defects. This Web site provides access to selected resources on heredity, genes, genetic testing and counselling, blood types and chromosome abnormalities. There is also a glossary of terms in genetics, and short defintions of disorders.


Genetic counselling

This article provides information about genetic counselling, aimed at expectant parents. It explains what genetic counselling is; the qualifications possessed by genetic counsellors; who should see a genetic counsellor; what to expect during a visit to the genetic counsellor; and what next after counselling. Published by KidsHealth, a project of The Nemours Foundation in the US. Links are included to related articles and to other resources. Some information may have a US focus.


Bush on stem cells

This is from Tommy Thompson. I don't agree with him personally as I feel the research is important in genetic disorders but nevertheless there are other people who have different views on genetic stem cell research and it is important to put them up.


History of genetics timeline

This is a brief but interesting timeline starting with Darwin.


The founders of DNA

This site has some information on Watson, Crick and 2 lesser known figures who have played a very important part in modern genetics.


Gene therapy

This is high quality information on gene therapy.


Saturday, February 11, 2006

UK stem cell bank

This site has much detail about the stem cell bank and the way that it is going to be used. It is interesting and worth a read as this could lead to significant advances in genetic disorders.


MP calls for end to cousin marriages

This follows a report on BBC Newsnight which revealed that genetic disorders are more common in Pakistanis then in the general population due to the fact that they marry close cousins. The report which I have seen also shows that people are in denail. I guess this is one of a number of social issues that comes along with better understanding of genetics.


Genetic skin diseases group

The Group is based at Kings College London (to be more accurate it is based at the teaching hospitals). The site is bare but it does provide some basic information which maybe of use to the general reader.


Genetics of ageing

This is from a 2 part lecture at UCL and it is very interesting as it asks questions like is ageing a genetic diseases? and how to overcome it. It is worth a read.


Friday, February 10, 2006

Gene patenting

This is a detailed report on gene patenting.


Population genetics

This concerns Jews.


Physical genetics

This includes things like eye colour.


Thursday, February 09, 2006

Eye genetics

The genetics of human eye colour


Wednesday, February 08, 2006

Dangers of interbreeding in dogs

This is a really interesting site.


Fish genetics

This is a website from DFID


Chimps more closely related to humans then apes

I hope you find something interesting.


Tuesday, February 07, 2006

European Organisation for Rare Diseases

This site is in a number of languages.


Monday, February 06, 2006

British Society of Human Genetics

This is a good site with links to member bodies.


Sunday, February 05, 2006

Royal Commission on Genetic Modification New Zealand

This site points to their report. I have not had a chance to read it.


Saturday, February 04, 2006

Metabolic diseases

Here is a really good website from climb


I would be grateful if people let me know of news nad information sources as I cannot keep up to date.

Friday, February 03, 2006

Centre for Medical Genetics and Policy

This is part of the Knowledge Park it does have some interesting information on it.


Thursday, February 02, 2006

Zain's appeal

This site maybe out of date but it is still important. I may have included it earlier but I am not sure.