Gene Pad (tm) Blog / Genetic Testing

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The genetic code is a set of rules, which maps DNA sequences to proteins in the living cell, and is employed in the process of protein synthesis. Nearly all living things use the same genetic code, called the standard genetic code.

Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a person's ancestry. Every person carries two copies of every gene, one inherited from their mother, one inherited from their father. The human genome is believed to contain about 25,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant genes.

via [ Gene Pad ] [ DNA Pad ]

Common genetic variation is linked to substantial risk for heart attack

A common genetic variation on chromosome 9p21 is linked to a substantial increase in risk for heart attack, according to a new international research study. The findings are published in the online edition of Science, and will appear in an upcoming printed edition of the journal.

Researchers found individuals with the variation have a 1.64-fold greater risk of suffering a heart attack (myocardial infarction) and a 2.02-fold greater risk of suffering a heart attack early in life (before age 50 for men and before age 60 for women) than those without the variation. Approximately 21 percent of individuals of European descent carry two copies of the genetic variation (one from each parent), found on chromosome 9p21. The research project was led by the Icelandic genomics company deCODE Genetics, along with U.S. researchers at Emory University School of Medicine, Duke University, and the University of Pennsylvania.

» Emory University

Tags: deCODE+Genetics, Emory+University, Genetic+Variation

Gene mutation found only in humans

Scientists in China have announced finding the gene that makes us human. The article explains that prior work has shown that humans, as compared with the great apes from which we diverged over 5 million years ago, have a longer form of a protein (type II neuropsin) located in the pre-frontal cortex of the brain. From the article: 'Gene sequencing revealed a mutation specific to humans that triggers a change in the splicing pattern of the neuropsin gene, creating a new splicing site and a longer protein. Introducing this mutation into chimpanzee DNA resulted in the creation of type II neuropsin. "Hence, the human-specific mutation is not only necessary but also sufficient in creating the novel splice form," the authors state.' The team is urging further analysis of the extra 45 amino acids in type II neuropsin since they believe that chain may cause protein structural and functional changes. The research didn't link anything with this protein, simply identifying it as a very distinct difference between us and our closest cousins.

» interscience.wiley.com

Technology Review: Genomes for the Masses

Whereas the DNA sequence produced by the Human Genome Project in 2003 was a mosaic drawn from a number of different human genomes, the efforts by 454 Life Sciences and Illumina, which could be completed in the next few months, will be the first sequences of individual genomes. As such, they herald the era of "personalized genomics." An individual genome sequence shows the particular combination of genetic variants in an individual's DNA, allowing scientists to explore the relationship between a person's genotype and his or her biological traits. This has been done at the level of single genes for decades, but never before on the genome-wide scale.

» technologyreview.com

Genetic Information Nondiscrimination Act of 2007

The Genetic Nondiscrimination Act of 2007 (GINA) has been passed in the U.S. House of Representatives, by a vote of 420-3. The act will protect individuals against discrimination based on their genetic information when it comes to health insurance and employment. These protections are intended to encourage Americans to take advantage of genetic testing as part of their medical care.

President George W. Bush urged Congress to pass legislation to protect Americans from having their genetic information about cancer and other diseases used against them in health insurance or employment. After that, genetic non-discrimination bills were introduced in the House of Representatives and the Senate.

» genome.gov

Scientists map rhesus monkeys genome

Scientists have unraveled the DNA of another of our primate relatives, this time a monkey named the rhesus macaque — and the work has far more immediate impact than just to study evolution. These fuzzy animals are key to testing the safety of many medicines, and understanding such diseases as AIDS, and the new research will help scientists finally be sure when they're a good stand-in for humans. Having a third primate will allow scientists to compare the three genomes, with an added emphasis on singling out the genes possessed by humans alone. The end goal is to reconstruct the history of every single one of the approximately 20,000 genes, to determine when they first appeared in history, and in what species. All of this requires an extraordinary amount of information.

"This brings us much closer to understanding what makes us human," said Richard Gibbs, the project leader and director of Baylor's Human Genome Sequencing Center.

» Houston Chronicle

Why gene patents are bad / Michael Crichton op-ed

He begins with 'You, or someone you love, may die because of a gene patent that should never have been granted in the first place. Sound far-fetched? Unfortunately, it's only too real.' From there, he moves on to use logic, statistics, and his way with words to make his point. Arguing against the high costs of gene therapies thanks to related patents, he eventually offers hope that one day legislation will de-incentivize the hoarding of scientific knowledge. As he points out: 'When SARS was spreading across the globe, medical researchers hesitated to study it — because of patent concerns. There is no clearer indication that gene patents block innovation, inhibit research and put us all at risk.

» New York Times

Patentless cancer drug discovered / dichloroacetate (DCA)

Researchers working at the University of Alberta in Edmonton, Canada have discovered that an existing drug called dichloroacetate (DCA) is effective in killing cancer cells, while leaving the host's healthy cells unharmed. DCA has already been used for years to treat metabolic disorders, and is known to be fairly safe. Sounds like great news, is it too good to be true? Why is the mainstream news media failing to report on this potential breakthrough? The University of Alberta and the Alberta Cancer Board have set up a site with more info, where you can also donate to support future clinical trials.

» depmed.ualberta.ca
» new scientist

DNA tests theory of roman village in china

Many of the inhabitants of a lonely village in north western China seems to have distinctive western features. An old theory from the 50s suggests that a Roman legion lost in what is now Iran in the year 53BC lost their commanding officer. They traveled east, so the legend goes, working as mercenaries until they were caught by the Chinese 17 years later. The Chinese described them as using a 'fish-scale formation', which could be a reference to the well-known Roman phalanx technique called the 'tortoise'. The remainder of the legion, it is suggested, may have intermarried with the villagers in Liqian. Scientists are now trying to verify the fascinating theory by testing the DNA of the inhabitants of the Chinese village.

» Sydney Morning Herald

links for 2006-10-18

• Denmark an example after transfat ban
  Two years ago Denmark declared war on killer fat, making it illegal for any food to have more than 2 percent transfats. Offenders now face hefty fines — or even prison terms. The result? Today hardly anyone notices the difference.
  (tags: transfats transfat health)

Introgen: ADVEXIN Molecular Targeted Therapy Is Active in Multiple Cancers

Introgen Therapeutics,Inc. (Nasdaq: INGN) today reported updated data from several clinical studies which demonstrate the activity of ADVEXIN p53 therapy in patients with cancers of the head and neck, lung, breast and esophagus. Additional results showing utility of ADVEXIN in the inherited cancer known as Li-Fraumeni Syndrome were also reported. Evaluation of molecular and clinical biomarkers was able to predict patient populations most likely to benefit from ADVEXIN therapy.

Human Genome Sciences announced its Phase 3 clinical development for Albuferon(TM)

Human Genome Sciences, Inc. (Nasdaq: HGSI) today announced its Phase 3 clinical development program for Albuferon(TM) (albumin-interferon alpha 2b) in patients with chronic hepatitis C. "We believe that Albuferon could become the best-in-class immunomodulator in treatment regimens for chronic hepatitis C, and we are pleased to move this important program forward," said H. Thomas Watkins, President and Chief Executive Officer, HGS. "Advancing Albuferon to Phase 3 development is a major step toward the transformation of HGS into a development and commercialization company."
Via: First Call
Via: Forbes

Patients are increasingly getting vastly different medical opinions about the same problem, and are left wondering what's the best thing for their health.

A randomized controlled trial, in which patients were randomly assigned to receive either the treatment or a placebo, dispelled long-held beliefs. Such trials are the cornerstone of "evidence-based medicine," which has galvanized doctors perhaps more than any other subject.

Critics condemn evidence-based medicine as "cookbook medicine" that devalues the doctor's experience and the patient's preference. Proponents argue that evidence from randomized controlled trials has stanched the flow of private and public dollars for useless or even harmful treatments. More important, they say, the information has saved countless lives.

Both sides agree on one point: Keeping up with the latest evidence is virtually impossible.
Via: USA Today "In medicine, evidence can be confusing"

links for 2006-10-16

• National Library of Medicine - National Institutes of Health
  Biomedical library. Explores the uses of computer and communication technologies to improve the organization and use of biomedical information
  (tags: health database biotech rxblog.com Rx)
• Mayo Clinic
  Mayo Clinic is a not-for-profit medical practice dedicated to the diagnosis and treatment of virtually every type of complex illness. Mayo Clinic staff members work together to meet your needs. You will see as many doctors, specialists and other health ca
  (tags: health reference Rx rxblog.com)

A Database for Disease: A genetic "roadmap" will help to find treatments for diseases, by looking at the signatures that drugs leave behind.

A newly developed genetic "roadmap" promises to streamline the drug discovery process. Called the Connectivity Map, this public database matches drug compounds with diseased cells and the processes occurring within them.

"The reason it's so difficult to find those disease and drug connections is that the languages in which they are conventionally described are very different," says Justin Lamb, senior scientist at the Broad Institute in Cambridge, MA. "A physician would describe a disease in terms of its physical symptoms, whereas a chemist would describe drug actions in terms of binding that chemical to a particular protein." The researchers want to bridge that gap using a common language: gene-expression signatures.
Via: MIT Technology Review

Vical says its Vaxfectin Adjuvant increases immune response to seasonal flu vaccine

Vical Incorporated today announced conclusions from anthrax DNA vaccine studies in non-human primates reflecting data.

* DNA vaccines encoding protective antigen (PA) elicited protective immunity against lethal anthrax spore challenge that could not be predicted by post-vaccination antibody immune responses.
* Anthrax spore challenge resulted in more rapid and significantly higher anti-PA antibody responses and anthrax lethal toxin neutralizing antibody responses in DNA-vaccinated animals than in control animals.
* "Pseudochallenge" with anthrax antigen (recombinant PA vaccine) also resulted in more rapid and measurably higher anti-PA antibody responses and anthrax lethal toxin neutralizing antibody responses in DNA-vaccinated animals than in control animals.

Aranesp (r) Amgen receives FDA approvable letter for new Aranesp dosing regimens

Amgen (NASDAQ:AMGN) today announced that the U.S. Food and Drug Administration (FDA) has issued an “approvable” letter, for Aranesp® (darbepoetin alfa) de novo once every-two-week and maintenance once-monthly dosing regimens for chronic kidney disease (CKD) patients with anemia not on dialysis.

In December 2005, Amgen submitted a biologics license supplement to the FDA for these Aranesp dosing regimens for CKD patients with anemia not on dialysis. The FDA has requested additional clinical data for the once-monthly dosing regimen, including an additional clinical study. The FDA has also requested additional label language and clarification of submitted data for the de novo once every-two-week dosing regimen. Amgen is committed to working closely with the FDA to resolve these questions in a timely and efficient manner.

Forty NMR Magnets and 3000 Proteins Later. . .

A recent issue of Nature carried an intruiging article about Japan's five-year "Protein 3000" project, which is now winding down. Carried out under the auspices of RIKEN, the project was designed to use a large-scale NMR facility to solve the structures of at least 3000 proteins, and along the way advance the understanding of protein folding in solution. Whether or not it succeeded depends on who you ask, because the answer isn't obvious. The project does seem to be on track to make its numerical goals, but according to the article, many protein-structure people think that a large number of the structures that have been solved are, well, junk - easy, closely-related ones that were put on the list to run up the numbers. While the organizers dispute that, as they certainly would, another problem is that understanding protein folding has turned out to be (you know what's coming) harder than expected. The project was supposed to cover a large swath of a hypothetical 10,000 different folds, but now the real number is thought to be two or three times that. So the best case was that Protein 3000 would have worked out about a third of all possible protein folds, but now they're looking at perhaps 5 to 10% of them. The Japanese government has a real weakness for big programs like this. I think that Protein 3000 has been one of their biggest forays into that area, but in the past they've announced all sorts of gaudy projects in computation and the like, most of which haven't worked out quite as planned.
Via: http://www.nature.com/news/2006/060925/full/443382a.html
Via: http://pipeline.corante.com/archives/2006/10/09/forty_nmr_magnets_and_3000_proteins_later_.php
Via: http://pfweis.kek.jp/eng/tanpaku/page0.html

UBS Global Life Sciences Conference Opens in New York

The UBS Global Life Sciences Conference opens today at the Grand Hyatt in New York City and runs through Thursday, September 28. The Conference will feature presentations by more than 340 public and private companies representing biotechnology, medical device manufacturers, pharmaceuticals and specialty pharmaceutical.

The annual UBS Global Life Sciences Conference is among the largest health care investor conferences in the world. Senior executives from the leading pharmaceutical, biotechnology and medical technology companies will provide their insight and outlook on the global life sciences industry. More than 3,500 people are expected to attend.

GenePad

A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects:

• They may be caused by random mutation.
• There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome and Klinefelter's syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome.
• The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the United States carry the defective gene.

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