Researchers discover five inherited genetic variants that could help identify ...

Researchers discover five inherited genetic variants that could help identify the most lethal prostate cancers From Seattle to Sweden: first population-based study to demonstrate that inherited genetic variants play a role in prostate cancer progression and mortality

SEATTLE — Aug. 16, 2011 — An international team of researchers led by Fred Hutchinson Cancer Research Center has identified five inherited genetic variants that are strongly associated with aggressive, lethal prostate cancer. The discovery ultimately could lead to the development of a simple blood test that could be given upon diagnosis to determine which men should receive aggressive treatment versus a more conservative “watchful waiting” approach.

The findings, by Janet L. Stanford, Ph.D., co-director of the Hutchinson Center’s Program in Prostate Cancer Research and a member of its Public Health Sciences Division, are published online Aug. 16 ahead of the September issue of A substantial number of men with indolent tumors – which have a low probability of progressing to clinically significant, lethal prostate cancer – are overtreated and, as a result, suffer side effects such as sexual impotence and urinary incontinence. In addition to its personal toll, overtreatment of indolent prostate cancer also carries a substantial economic burden, with an average of $2 billion to $3 billion spent annually in the U.S. on initial therapy alone.

“Biomarkers that could distinguish between patients with indolent versus more-aggressive tumors are urgently needed,” Stanford said. “The panel of markers we’ve identified provides the first validated evidence that inherited genetic variants play a role in prostate cancer progression and mortality. Ultimately these markers could be used in the clinic, along with other known predictors that are used to assess tumor aggressiveness, such as a high Gleason score, to identify men with a high-risk profile.”

The Hutchinson Center has filed a patent on the panel of five single-nucleotide polymorphisms, or SNPs (pronounced “snips”), which are single-letter variations within the four-letter DNA alphabet that serve as markers of genetic variation across the genome which may play a role in the development or progression of disease. “We chose to study SNPs in genes that potentially play a key role in biological pathways that may contribute to prostate cancer progression such as inflammation, steroid-hormone production and metabolism, DNA repair, circadian rhythm and vitamin D activity,” Stanford said.

Gene Therapy Human Genome - News


TONY AUTH / The Philadelphia Inquirer (tauth@phillynews.com)

Silly as the movie gets, Rise of the Planet of the Apes explores big questions about human evolution. In the film, scientists use chimp subjects in a gene therapy experiment that triggers the growth of new brain cells. That makes some of the chimps act



Researchers discover five inherited genetic variants that could help identify ...
Researchers discover five inherited genetic variants that could help identify ...

Collaborators on the study included researchers from the Karolinska Institutet in Stockholm; Umea University in Umea, Sweden; the National Human Genome Research Institute of the National Institutes of Health in Bethesda, Md.; Wake Forest University



Gene-therapy enzymes make unpredicted errors
Gene-therapy enzymes make unpredicted errors

K. Eward/Science Photo Library Molecular tools that alter specific sites in the genome hold huge promise for genetic research and gene therapy. But the first genome-wide surveys of where these tools, called zinc-finger nucleases, act has surprised



Causes of Schizophrenia

Using state-of-the-art "deep sequencing," they examined the nucleotide bases of almost all the genes in the human genome. This time they found 40 mutations, all from different genes and most of them protein-altering. The results point the way to



Genetic research shedding new light on cat diseases

It required a tremendous effort to create that human gene map. The cost was approximately $2.7 billion and the project took a consortium of 20 groups 13 years to complete. In 2005, the National Human Genome Research Institute (NHGRI) announced a light




Gene Therapy | Human Genome Project | history of gene therapy ...

Gene   therapy

Gene   therapy   has grown out of the science of genetics or how heredity works. Scientists know that life begins in a cell, the basic building block of all multicellular organisms. Humans, for instance, are made up of trillions of cells, each performing a specific function. Within the cell's nucleus (the center part of a cell that regulates its chemical functions) are pairs of chromosomes. These threadlike structures are made up of a single molecule of DNA (deoxyribonucleic acid), which carries the blueprint of life in the form of codes, or genes, that determine inherited characteristics.

A DNA molecule looks like two ladders with one of the sides taken off both and then twisted around each other. The rungs of these ladders meet (resulting in a spiral staircase-like structure) and are called base pairs. Base pairs are made up of nitrogen molecules and arranged in specific sequences. Millions of these base pairs, or sequences, can make up a single  gene , specifically defined as a segment of the chromosome and DNA that contains certain hereditary information. The  gene , or combination of genes formed by these base pairs ultimately direct an organism's growth and characteristics through the production of certain chemicals, primarily proteins, which carry out most of the body's chemical functions and biological reactions.

Scientists have long known that alterations in genes present within cells can cause inherited diseases like cystic fibrosis, sickle-cell anemia, and  hemophilia.  Similarly, errors in the total number of chromosomes can cause conditions such as  Down syndrome  or Turner's syndrome. As the study of genetics advanced, however, scientists learned that an altered genetic sequence also can make people more susceptible to diseases, like  atherosclerosis , cancer,  and even  schizophrenia. These diseases have a genetic component, but also are influenced by environmental factors (like diet and lifestyle). The objective of  gene   therapy  is to treat diseases by introducing functional genes into the body to alter the cells involved in the disease process by either replacing missing genes or providing copies of functioning genes to replace nonfunctioning ones. The inserted genes can be naturally-occurring genes that produce the desired effect or may be genetically engineered (or altered) genes.


Gene Therapy Human Genome - Bookshelf

The Human Genome, A User's Guide

The Human Genome, A User's Guide

14.7 GENE-BASED THERAPy INSTEAD OF GENE THERAPy Use of Recombinant ... made from a cloned version of the human insulin gene, allows diabetics to use human ...

Lehninger principles of biochemistry

Lehninger principles of biochemistry

Consequently, early efforts at human gene therapy were directed at only a ... However, GPR14 was an "orphan" receptor, in that human genome sequencing had ...

A guide to the Human Genome Project, technologies, people, and institutions

A guide to the Human Genome Project, technologies, people, and institutions

Industry and Gene Therapy One major role that corporations play in genomics ... See also "Technology Transfer," in Human Genome: 1991-92 Program Report ...

Human genome research, emerging ethical, legal, social, and economic issues

Human genome research, emerging ethical, legal, social, and economic issues

Thus, gene therapy has ramified, extending from treatment of genetic disorders to cancers and ... Gene therapy as such can be contemplated at two levels. ...

Health status and medical treatment of the future elderly, final report

Health status and medical treatment of the future elderly, final report

has been accelerated by) the inception of the Human Genome Project has given rise ... Gene Therapy Genetic modification of a patient's cells can alter gene ...

Casual Note Directory


Gene Therapy
In most gene therapy studies, a "normal" gene is inserted into the genome to replace an " ... Ethical Issues in Human Gene Therapy - A Human Genome News article. ...

Judicature: Gene Therapy and Beyond
The Human Genome Project and the Court: Gene Therapy and Beyond ... The impact of the Human Genome Project will be much broader than just making it possible ...

Genome.gov | Learning About Cystic Fibrosis
Answers to frequently asked questions about cystic fibrosis, published by the National Human Genome Research Institute.

Genome.gov | 1995 Release: First Human Gene Therapy Results
News release issued by the National Human Genome Research Institute in October 1995 on the results from the first clinical trial of human gene therapy.

Genes and Gene Therapy: MedlinePlus
Gene therapy is an experimental technique that uses genes to treat or prevent disease. ... on Genes and Gene Therapy is the National Human Genome Research Institute. Date last ...