Genetic Disorder News and Research

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

Scientists closer to correcting an abnormal gene which causes Charcot-Marie-Tooth disease

Scientists at the University of Edinburgh are closer to correcting an abnormal gene which causes one of the crippling muscle wasting diseases known collectively as Charcot-Marie-Tooth (CMT) disease.

10 Sep 2004

University of Utah gets patent approval relating to methods of rapid nucleic acid amplification

The U.S. Patent and Trademark Office has issued the University of Utah U.S. patent No. U.S. 6,787,338 (the '338 patent) relating to methods of rapid nucleic acid amplification.

8 Sep 2004

Pioneering work with human embryonic stem cells could speed up development of new treatments for Parkinson’s and diabetes

Pioneering work with human embryonic stem (hES) cells could speed up the development of new treatments for a range of degenerative disorders such as Parkinson’s disease and diabetes according to Dr Stephen Minger of King’s College London, speaking today at the BA Festival of Science.

8 Sep 2004

Research sheds shed light on a common cause of miscarriage in humans

Top poker players know that the face mirrors the brain. Specialists in embryonic development wouldn’t disagree. In fact, because the same clumps of primordial cells mold the final features of both, a close look at a child’s face can often yield clues about less visible problems within the skull

20 Aug 2004

Relationship between brain chemical messenger glutamate and schizophrenia traits

Researchers at the NIH's National Institute of Mental Health (NIMH) have identified a relationship between a small section of one gene, the brain chemical messenger glutamate, and a collection of traits known to be associated with schizophrenia.

15 Aug 2004

Gene responsible for management of glutamate is a promising candidate in determining risk for schizophrenia

Researchers at the National Institute of Mental Health have identified a relationship between a small section of one gene, the brain chemical messenger glutamate, and a collection of traits known to be associated with schizophrenia.

11 Aug 2004

New direction for research into Sly Syndrome

Findings by a Saint Louis University research team led by the scientist who discovered Sly Syndrome 32 years ago point to a new direction for research into the rare genetic disorder that can cause bone deformities, vision and hearing loss, mental retardation and death in children.

9 Aug 2004

New gene-silencing technique

A new gene-silencing technique that takes place in the nucleus of human cells, has been demonstrated by researchers at the University of California, San Diego (UCSD) School of Medicine and the VA San Diego Healthcare System.

5 Aug 2004

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