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After surgery check colon tumors for signs of syndrome, study suggests

A new study suggests that, after surgery, all colon tumors should be tested to learn if the patient may have an inherited syndrome that carries an extremely high risk of cancer. It also suggests that this prescreening can be done using a relatively inexpensive microscopy test already used in hospital pathology laboratories.

5 May 2005

Penn researchers demonstrate that a metabolic enzyme works through the tumor-suppressor protein p53 to control cellular replication

Researchers at the University of Pennsylvania School of Medicine have identified in normal cells that a common metabolic enzyme, which acts as a rheostat of cellular conditions, also controls cell replication.

4 May 2005

Nephrogenic Syndrome of Inappropriate Antidiuresis - a new genetic disease

Two infant boys whose bodies were overloaded with excess fluid have led UCSF pediatricians to the discovery of a new genetic disease. In the process, they have discovered a rare type of mutation where different substitutions in a single amino acid cause two different, opposite genetic disorders.

4 May 2005

Study reveals new approach to Huntington's disease

Scientific theory holds that Huntington's disease (HD) is caused by a mutant protein that arises within brain cells and kills them, triggering the genetic neurological disorder. Now a new UCLA Neuropsychiatric Institute study reveals the first strong evidence that the mutant protein also elicits toxic interactions from neighboring cells to provoke the fatal brain disorder. The May 5 edition of Neuron reports the findings.

4 May 2005

Pharmacogenomics used to treat inherited kidney disorder of children

Mayo Clinic researchers have used pharmacogenomics to develop a test and treatment for an inherited kidney disorder that can cause organ failure in children and young adults.

4 May 2005

Newly identified fly genes provide clue to tumour growth

Researchers from the Oxford University Department of Human Anatomy and Genetics have found a new class of genes that are critical for cell growth and may be involved in the uncontrolled growth that takes place in cancer. The discovery could provide a key to future tumour therapies.

4 May 2005

MRI study shows hormone leptin alters brains, may ease cravings of people with obesity gene

A magnetic resonance imaging (MRI) study finds that the protein hormone leptin promotes development of gray matter in the part of the brain that regulates cravings and the ability to monitor personal behavior.

4 May 2005

Mutated gene causes serious heart disease in newborns

The research group of professor Manfred Kilimann at the Department of Cell and Molecular Biology has elucidated the genetic cause of a severe heart disease in newborn children. This result will be published in the June issue of the American Journal of Human Genetics this week.

3 May 2005

Study identifies possible marker for efficacy of gefitinib in lung cancer patients

Patients with advanced non–small-cell lung cancer (NSCLC) whose tumor cells contain extra copies of the epidermal growth factor receptor (EGFR) gene may be more likely to respond to the drug gefitinib (Iressa), and this high gene copy number may be an effective predictor of gefitinib efficacy, according to a new study in the May 4 issue of the Journal of the National Cancer Institute.

3 May 2005

Researchers make new advances in determining the structure of all possible DNA sequences

Oregon State University researchers have made significant new advances in determining the structure of all possible DNA sequences – a discovery that in one sense takes up where Watson and Crick left off, after outlining in 1953 the double-helical structure of this biological blueprint for life.

3 May 2005

Gene variant that increases colon cancer risk

A paper published in this week's Journal of Clinical Oncology says Transforming Growth Factor Beta Receptor 1*6A (TGFBR1*6A) - a mutated gene present in nearly one in eight people and the most commonly inherited cancer susceptibility gene identified so far - might be responsible for a significant proportion of familial colorectal cancers.

2 May 2005

Defects in gene called RyR2 cause malfunctions in the heart's electrical system

Mayo Clinic researchers have identified defects in a second gene called RyR2 that causes malfunctions in the heart's electrical system and contributes to what were previously unexplained drownings.

2 May 2005

Clues about the causes of dementia in Huntington's disease

Scientists at Melbourne's Howard Florey Institute have uncovered a clue about the causes of dementia in Huntington's disease, one of the disease's symptoms, by showing that mice susceptible to Huntington's disease have problems with learning and memory before the diseases' typical movement problems appear.

27 Apr 2005

Asians and Pacific Islanders have the highest levels of iron in their blood

UAB and international scientists studying iron-overload disorders have made the unexpected discovery that Asians and Pacific Islanders have the highest levels of iron in their blood of all racial/ethnic groups who were screened.

27 Apr 2005

Researchers zero in on sleep gene

Zeroing in on the core cellular mechanisms of sleep, researchers at University of Wisconsin Medical School have identified for the first time a single gene mutation that has a powerful effect on the amount of time fruit flies sleep.

27 Apr 2005

Revised Bethesda guidelines effective at identifying patients at risk of colorectal cancer

The revised Bethesda guidelines, used for screening patients for a type of hereditary colorectal cancer, are effective for determining which patients should undergo further genetic testing, according to a study in the April 27 issue of JAMA.

26 Apr 2005

Hereditary colorectal cancer risk lowered in those without certain gene defect

Families with a certain type of hereditary colorectal cancer have a reduced cancer risk if they do not have a gene defect found in many with this type of cancer risk, according to a study in the April 27 issue of JAMA.

26 Apr 2005

Genetic screening for iron blood disorder feasible in the workplace

Screening for a condition called haemochromatosis, where iron to builds up in the body, could help prevent organ damage and disease, suggests a study published online today by The Lancet.

26 Apr 2005

Herceptin provides hope to new breast cancer sufferers

According to new research, Herceptin, Genentech's breast cancer treatment has shown promise in treating the early stages of breast cancer.

25 Apr 2005

Molecular models advance the fight against malaria

Research from Dartmouth Medical School, demonstrating how malaria parasites form mutations that make them stubbornly resistant to drug therapy, may hold the key to a new treatments for a disease that afflicts more than half a billion people worldwide.

25 Apr 2005