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Yeast mimics severity of mutations leading to fatal childhood illness
Scientists report that human gene mutations expressed in yeast cells can predict the severity of Batten Disease, a fatal nervous system disorder that begins during childhood.   view more (2008-12-22)

Targeting lung cancer
As reported in the June 1 issue of G&D, Drs. Katerina Politi, Harold Varmus and colleagues at the Memorial Sloan Kettering Cancer Center in New York have developed a novel animal model of lung adenocarcinoma that will be of great use in testing the efficacy of targeted therapies against human lung cancer.   view more (2006-05-18)

No test needed for hand-foot genital syndrome in women without HOXA13 gene mutation
Hugh S. Taylor, M.D., professor in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale, and colleagues have found that women without mutations of the HOXA13 gene do not need to be subjected to x-rays and other tests for a rare condition called hand-foot genital syndrome.   view more (2009-10-20)

Survival of the fittest: even cancer cells follow the laws of evolution
Scientists from The Institute of Advanced Studies at Princeton and the University of California discovered that the underlying process in tumor formation is the same as for life itself-evolution.   view more (2008-08-04)

A fly lamin gene is both like and unlike human genes
Lamins are intermediate filament proteins that make up a matrix underlying the nuclear membrane.   view more (2007-06-13)

Research suggests link between infertility, low egg reserve, and breast/ovarian cancer gene (BRCA1)
A New York Medical College physician who specializes in restoring or preserving fertility in female cancer patients has discovered a possible link between the presence of breast cancer genes and infertility.   view more (2009-12-21)

Mutation rate in a gene on the X chromosome holds promise for testing cancer risk
A new study to detect an elevated rate of mutations in a gene on the X chromosome holds promise for developing a test that could identify individuals at risk for developing cancer.   view more (2005-09-16)

Cystic fibrosis testing -- next steps
Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.    view more (2009-04-28)

Male infertility: Scientists discover candidate gene for impaired spermatogenesis
Lausanne, Switzerland: Researchers in the Netherlands believe they have identified a gene that is involved in causing infertility in men. Dr Judith Gianotten told the European Society of Human Reproduction and Embryology annual meeting in Lausanne today (Wednesday 4 July) that the ZNF214 gene is probably a candidate gene for impaired... view more... (2001-07-03)

Exposure to organic dissolvents may cause carcinogenic mutations
A study led by Universitat Autònoma de Barcelona researchers has shown that exposure to hydrocarbon-based organic dissolvents may provoke mutations in the k-ras oncogen, a gene which facilitates the appearance of tumours when it has mutated. The relationship has been demonstrated in pancreatic cancer patients who had been exposed to the... view more... (2002-02-11)

Making Blind Zebrafish See
Scientists in the Conway Institute of Biomolecular & Biomedical Research have restored the sight of blind zebrafish whose eyes failed to develop due to a genetic mutation. The findings, published this week in Developmental Biology, are exciting first steps on a long road to understanding eye diseases in humans. Dr. Breandan Kennedy and his... view more... (2004-07-01)

Study Confirms Value Of Family-history Knowledge For Young Women With Breast Cancer (p 1101)
A UK study published as a research letter in this week's issue of THE LANCET highlights the importance of detailed family-history knowledge to help identify women with pathogenic gene mutations for breast cancer. Women who carry mutations of BRCA1 and/or BRCA2 genes have a much higher lifetime risk of breast cancer-up to 80%-compared with... view more... (2003-03-26)

The impact of genomics
Working with worms may not be your average person's idea of a good time, but for University of Toronto researcher Dr. Andrew Fraser, they are fascinating.    view more (2010-02-22)

Poor prognosis linked to BRCA1 mutations - but may be improved by chemotherapy
Breast cancer patients have a lower chance of long-term survival if they carry an inherited mutation in the BRCA1 gene, according to research published in Breast Cancer Research this week. However, the poor prognosis associated with the mutated gene is mitigated by chemotherapy. The breast cancer susceptibility genes, BRCA1 and BRCA2, were... view more... (2003-10-20)

A new kind of mutation could explain numerous phenotypic variations in various species
The authors describe the discovery of a novel class of mutations that disrupt the function of a gene and thereby cause a specific phenotype. The mutation created the appearance of an "illegitimate" microRNA (miRNA) recognition site in a gene that did not have it in its normal form.   view more (2006-06-06)

Gene discovery may shed light on kidney disease
In a finding that may have broader implications for understanding kidney disorders, genetics researchers at The Children's Hospital of Philadelphia have identified a second gene that gives rise to Alagille syndrome, a genetic developmental disease that affects multiple organs.   view more (2006-08-01)

Tiny differences in our genes help shed light on the big picture of human history
By examining very small differences in people's genes, scientists from Cornell University have developed a new tool for identifying big events in human history and pinpointing the origins of specific gene mutations.   view more (2009-04-30)

New mutation causing tumours in the endocrine system
   view more (1999-03-16)

Researchers identify promising gene target for neuroblastoma therapy
Researchers at Dana-Farber Cancer Institute have identified a set of previously unknown mutations in a single gene in 8 percent of neuroblastomas, tumors of the nervous system that occur in young children and account for approximately 15 percent of all childhood cancer deaths.   view more (2008-10-16)

New links in the cystic fibrosis chain uncover potential therapeutics
Cystic fibrosis (CF) is an inherited disease caused by mutations in the CFTR gene. Each mutation has number of effects on the cells of the lungs.   view more (2007-10-19)
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