Genetic Disorder News and Research

RSS

A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Entirely new approach to the treatment of aging

Dispelling the belief that the only way to treat such conditions is by fixing or replacing damaged genes, they instead focused on the field of epigenetics—the study of changes in gene silencing that occur without changes in the genes themselves.

3 Aug 2004

New ethics committee regulations impede and delay clinical research

New ethics committee regulations impede and delay clinical research, sometimes to the extent that conclusions are flawed and patients damaged, according to several articles in this week's BMJ.

29 Jul 2004

IVF pioneer wins international recognition

Monash in vitro fertilisation pioneer Professor Alan Trounson has been awarded the 2004 Bertarelli Foundation Award in Reproductive Health for his outstanding contribution to the field of assisted reproductive technologies.

29 Jul 2004

HFEA allows families to have a child who could be a tissue match for a seriously ill brother or sister

The Human Fertilisation & Embryology Authority has decided to extend the rules allowing embryos to be tested in order for families to have a child who could be a tissue match for a seriously ill brother or sister.

22 Jul 2004

Medicinal qualities of plants shown to ease symptoms of genetic disease

Phytomedicines are medicines derived from plants and often responsible for the healing effects of traditional remedies used.

21 Jul 2004

Ghrelin may help reduce obsesity in children with genetic disorder

What if your child’s overeating was so uncontrollable that it led to eating out of the garbage, ransacking the kitchen and getting arrested for stealing food?

15 Jul 2004

Ohio State budget cuts jeopardize medical coverage

On July 1, the Ohio State Department of Health plans to implement a major budget cut for the Bureau for Children with Mental Handicaps (BCMH).

10 Jul 2004

Researchers shed new light on the function of huntingtin, the protein whose mutation underlies Huntington’s disease

CNRS and Inserm research scientists at the Institut Curie have shed new light on the function of huntingtin, the protein whose mutation underlies Huntington’s disease.

8 Jul 2004

Key proteins that regulate neurofibromatosis could be targets for new drugs

More than 100,000 Americans suffer from the painful and debilitating genetic disorder known as neurofibromatosis, or NF, which causes tumors to grow in various types of nerve tissue throughout the body.

7 Jul 2004

Mucus may be the key to new treatments for cystic fibrosis

The surprising finding that people with cystic fibrosis (CF) produce too little airway mucus – rather than too much, as it commonly believed

1 Jul 2004

A Center for Human Genetics/Genomics has been established at the University of California

Established in UCSD Health Sciences, which includes the School of Medicine and School of Pharmacy and Pharmaceutical Sciences, the Center brings together UCSD faculty from multiple campus departments and schools including medicine, pharmacy, biology, biostatistics and mathematics.

30 Jun 2004

Researching the history of reproductive medicine during the Nazi era is still taboo

Researching the history of reproductive medicine during the Nazi era is still taboo, a leading German professor will tell the 20th annual conference of the European Society of Human Reproduction and Embryology today (Monday 28 June).

28 Jun 2004

Gene chip technology can detect one of the commonest cystic fibrosis (CF) genetic mutations with 100% accuracy

A single genetic test that is capable of detecting all mutations involved in the development of cystic fibrosis could be just a few years away, the 20th annual conference of the European Society of Human Reproduction and Embryology heard today (Monday 28 June).

28 Jun 2004

Current legislation on preimplantation genetic diagnosis in Germany does not reflect the views of the general public

At present PGD is forbidden in Germany, but in one of the first large study of attitudes to PGD amongst the general population and infertile couples in Germany, the researchers found that the majority of Germans think the technique should be permitted.

28 Jun 2004

Oldest evidence yet of a human hereditary genetic disorder found

The discovery of what is believed to be the oldest evidence yet found of a human hereditary genetic disorder has been announced by researchers at the Hebrew University of Jerusalem.

28 Jun 2004

Cornelia de Lange syndrome gene discovered

An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children.

20 Jun 2004

Recommended guidelines to govern genetic testing in Europe

Genetic testing may soon prove that prevention is better than cure. However, the emerging practice could have certain less desirable ethical and practical implications.

17 Jun 2004

Breakthrough in gene therapy

Despite a roller-coaster ride of ups and downs during the past 15 years, gene therapy has continued to attract many of the world's brightest scientists. They are tantalized by the enormous potential that replacing missing genes or disabling defective ones offers for curing diseases of many kinds.

3 Jun 2004

Fibroid tumors lack crucial structural protein

Fibroid tumors-the sometimes painful uterine growths affecting many American women-lack a key protein that plays a role in holding tissues together, according to a study by researchers from the Uniformed Services University of the Health Sciences (USUHS) and the National Institute of Child Health and Human Development of the National Institutes of Health

3 Jun 2004

Fibroid tumors affecting many American women lack a key protein helps hold tissues together

Fibroid tumors — the sometimes painful uterine growths affecting many American women — lack a key protein that plays a role in holding tissues together, according to a study by researchers from the Uniformed Services University of the Health Sciences (USUHS) and the National Institute of Child Health and Human Development of the National Institutes of Health.

2 Jun 2004