Category Archives: Transhuman News

Researchers at the Medical College of Wisconsin (MCW), in collaboration with other colleagues of the Genetic Epidemiology of Lung Cancer Consortium (GELCC), have identified a gene that is associated with lung cancer.

The findings are published in American Journal of Human Genetics. Through whole exome sequencing, researchers identified a link between a mutation in PARK2, a gene associated with early-onset Parkinson's disease, and familial lung cancer.

The researchers sequenced the exomes (protein coding region of the genome) of individuals from a family with multiple cases of lung cancer. They then studied the PARK2 gene in additional families affected by lung cancer.

"While this specific mutation is very rare in the general population, there was a significant association between the PARK2 mutation we studied and the families with multiple cases of lung cancer," said Donghai Xiong, PhD, assistant professor of pharmacology and toxicology at MCW and the lead author on the paper.

"These results implicate this specific mutation as a genetic susceptibility factor for lung cancer, and provide an additional rationale for further investigations of this gene and this mutation for evaluation of the possibility of developing targeted therapies against lung cancer in individuals with PARK2 variants," added Ming You, MD, PhD, the Joseph F. Heil Jr. Professor of Oncogenesis at MCW and Director of the MCW Cancer Center.

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The GELCC is headed by Dr. Marshall Anderson, PhD, professor of medicine at MCW. Other GELCC collaborating institutions include the National Human Genome Research Institute, the University of Cincinnati College of Medicine, the University of Toledo College of Medicine, the Louisiana State University Health Sciences Center, the Karmanos Cancer Institute in Detroit, Mich., the Mayo Clinic, the Geisel School of Medicine at Dartmouth College, the University of Pennsylvania, and the Baylor College of Medicine in Houston, Tex.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Parkinson's gene linked to lung cancer | EurekAlert ...

By Dennis Thompson HealthDay Reporter

TUESDAY, Jan. 27, 2015 (HealthDay News) -- A gene variant believed to "wire" people to live longer might also ensure that they keep their wits about them as they age, a new study reports.

People who carry this gene variant have larger volumes in a front part of the brain involved in planning and decision-making, researchers reported Jan. 27 in the Annals of Clinical and Translational Neurology.

These folks performed better on tests of working memory and the brain's processing speed, both considered good measures of the planning and decision-making functions controlled by the brain region in question.

"The thing that is most exciting about this is this is one of the first genetic variants we've identified that helps promote healthy brain aging," said study lead author Jennifer Yokoyama, an assistant professor of neurology at the University of California, San Francisco (UCSF). She noted that genetic research has mainly focused on abnormalities that cause diseases such as Alzheimer's and Parkinson's.

The gene involved, KLOTHO, provides the coding for a protein called klotho that is produced in the kidney and brain and regulates many processes in the body, the researchers said.

Previous research has found that a genetic variation of KLOTHO called KL-VS is associated with increased klotho levels, longer lifespan and better heart and kidney function, the study authors said in background information. About one in five people carries a single copy of KL-VS, and enjoys these benefits.

For this study, the researchers scanned the healthy brains of 422 men and women aged 53 and older to see if having a single copy of KL-VS affected the size of any brain area.

They found that people with this genetic variation had about 10 percent more volume in a brain region called the right dorsolateral prefrontal cortex, Yokoyama said.

This region is especially vulnerable to atrophy as people age, and its age-related decline may be one reason why older people can be easily distracted and have difficulty juggling tasks, she said.

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'Long Life' Gene Might Make Some Smarter, Too: Study

Dr. Theodore Friedmann is a longtime faculty member at UC San Diego and a pioneer in gene therapy.

Dr. Theodore Friedmann, a pioneer in the booming field of gene therapy, has been named a 2015 winner of the prestigious Japan Prize.

A pediatrician-turned-researcher at UC San Diego, Friedmann is renowned for demonstrating in the lab that it is possible to correct a genetic defect by adding a functional gene to defective cells, a feat he and colleagues accomplished in 1968. Since then, Friedmann has been guiding the young science through controversies, ethical challenges and setbacks.

Friedmann shares the prize in "medical science and medicinal science" with Dr. Alain Fischer of the Necker Hospital in Paris, France. Fischer helped demonstrate gene therapy's clinical ability to treat a genetic immune deficiency that makes patients extremely vulnerable to infections.

Along with the recognition, Friedmann and Fischer will split a $416,600 award, a certificate and gold medal. There's also the prospect of future recognition: several Japan Prize winners have gone on to win the Nobel Prize.

Friedmann is known not only as a scientist who demonstrated gene therapy is possible, but as a thinker who has dampened the waves of excessive exuberance and despondency that often accompanies the passage of research discoveries into therapies. He has also cautioned his fellow scientists to approach gene therapy with great caution.

In 1972, Friedmann co-authored an influential article in the journal Science, "Gene therapy for human genetic disease?" proposing a program of research advancement and safety precautions with an eye to eventual therapy. In February, 2010, he coauthored an article in Science about the potential use of performance-enhancing "gene doping" in sports.

Those who didn't heed Friedmann's warnings ran into trouble. For example, in 1999 gene therapy patient Jesse Gelsinger, 18, died due to an immune reaction. Gelsinger had a mild form of a genetically caused liver disease, controlled with drugs and diet. He was enrolled to test a treatment to be used in babies with a fatal form of the disease. But Gelsinger himself had little to gain.

A mountain of bad publicity threatened to sink the field. The New York Times wrote about "The Biotech Death of Jesse Gelsinger." As a consequence, other new forms of therapy, such as stem cell treatments, have progressed more slowly to avoid a repeat.

The Gelsinger disaster has receded into the background, as safer forms of gene therapy edge closer to becoming an accepted part of medicine. Forms of gene therapy are now being tested in clinical trials to treat such different diseases as cancer, sickle cell anemia and HIV, with impressive results.

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Friedmann wins Japan Prize for gene therapy