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March 2007 Posts
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Minnesota Gene Pool Blog

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March 26, 2007

HHS Secretary Leavitt Discloses Plans to Place Greater Emphasis on Personalized Medicine

In a time when research funding from the Federal Government is either leveling off or decreasing, the announcment by Secretary Leavitt that personalized medicine, which focuses on using new genomic and other "omic" approaches to assure that each patient gets the best treatment the first time, evey time, is a phenomenal announcement.

“Personalized health care will combine the basic scientific breakthroughs of the human genome with computer-age ability to exchange and manage data that will give us the ability to deliver the right treatment to the right patient at the right time – every time,? Leavitt said in a statement.

The Secretary also defined the main goals of the initiative:

HHS said the initiative has three main goals: to review structures for “ensuring that genetic tests are accurate, valid, and useful? by seeing to it that HHS departments know their assignments in this area; by developing “consistent policies? to guide HHS agencies in managing “access to and security of federally supported research?; and by creating a “network of networks? that pulls together health care information from “the nations major health data repositories? to “enable researchers to match treatments and outcomes.?

For more information on the US Department of Health and Human Services Personalized Medicine Initiative, check out their website.

The information on this report was taken from a story published on March 23, 2007 in GenomeWeb Daily News.

March 20, 2007

Facing Life With A Lethal Gene

In Sunday's New York Times, Amy Harmon reports on the story of Katharine Moser and her family legacy of Huntington Disease. Katharine has been tested for the Hungtington Disease Gene and lives with the knowledge she is likely to die someday of this disease. At the tender age of 23 years, she made the very difficult decision to be tested for the gene that has ravaged the minds and bodies of so many of her relatives. She is living her life with humor and grace and is definitely worth getting to know. Check out her story.

March 13, 2007

Researchers Identify Biomarker For Lung Cancer

Researchers at Boston University have identified a set of 80 genes whose expression profile is 90% sensitive in identifying people with smoking-related lung cancer. This could be really important. The research is published on March 1, 2007 in Nature Medicine. Here is the PubMed Abstract.

Spira A, et al. Airway epithelial gene expression in the diagnostic evaluation of smokers with suspect lung cancer.
Nat Med. 2007 Mar;13(3):361-6.

See the news release from Boston University Medical School below.

Researchers Identify Biomarker For Lung Cancer

(Boston) — Researchers from Boston University School of Medicine (BUSM) have identified a gene expression marker that distinguishes smokers with lung cancer from smokers without the disease.

The findings, reported in the March 1, 2007 advanced on-line edition of Nature Medicine, (March print edition), may have immediate clinical relevance and public health impact.

Lung cancer is the leading cause of death from cancer in the United States and the world. The high mortality rate (80-85 percent with five years) results in part from a lack of effective tools to diagnose the disease at an early stage. As a result, most patients require invasive diagnostic tests which delay treatment and generate additional costs and risk for complications.

Given that cigarette smoke creates injury throughout the airway, the researchers sought to determine if gene expression in normal large-airwave epithelial cells obtained during a bronchoscopy (a relatively non-invasive diagnostic test) from smokers with a suspicion of lung cancer could be used as a lung cancer biomarker. Using Affymetrix HG-U133A microarrays, the researchers performed gene-expression profiling of these airway cells and identified an 80-gene biomarker that distinguished smokers with and without lung cancer.

The researchers then went on to test the biomarker on an additional 52 patients with an accuracy of 83 percent. They also received similar results on a prospective series of subjects (35 patients) independently obtained from five medical centers. The researchers found the biomarker approximately 90 percent sensitive for identifying stage 1 lung cancer, a potentially curable stage of disease.

“Our study has identified an airway gene-expression biomarker that will impact the diagnostic evaluation of smokers with suspect lung cancer. Our data also suggests that combining cytopathology of lower airway cells with the gene expression biomarker improves the diagnostic sensitivity of the overall bronchoscopy procedure from 53 to 95 percent,? said lead author Avrum Spira, MD, MSc, an assistant professor of medicine and pathology at BUSM.

This study was supported by the Doris Duke Charitable Foundation, US National Institutes of Health/National Institute of Environmental Health Sciences and National Institutes of Heal/National Cancer Institute.

March 4, 2007

Study Raises Possibility of Jewish Tie for Jefferson

Thomas Jefferson probably had a rare form of the Y chromosome that is more commonly seen in men originating from the Middle East and East Africa. Could Jefferson been our first Jewish president? The short answer is...maybe.

Nicholas Wade covers the story for the New York Times.

Money quote from Mr. Wade's article:

Jefferson’s Y chromosome belongs to the branch designated K2, which is quite rare. It occurs in a few men in Spain and Portugal and is most common in the Middle East and eastern Africa, being carried by about 10 percent of men in Oman and Somalia, the geneticists report in the current issue of The American Journal of Physical Anthropology.

Puzzled at the lack of K2 Y chromosomes in Britain given that Jefferson’s own family traced its origin to Wales, Dr. Jobling’s group decided to scan a special population most likely to carry K2 — that of men named Jefferson.

Of 85 British Jeffersons tested, just two proved to have Y chromosomes of the K2 lineage. The paternal grandfather of one was born in Yorkshire, that of the other in the West Midlands.

Discovery of these two English members of K2 supports the idea that Thomas Jefferson’s recent paternal ancestry is from Britain. Had they not been found, Dr. Jobling’s team writes, the geographic distribution of K2 would have made the Middle East seem the most likely origin of Jefferson’s family.

The fact that K2 is common in the Middle East, however, raises the possibility that Jefferson had a Jewish ancestor, Dr. Jobling said. Jewish Y chromosomes resemble those of Middle Eastern peoples, and the Jewish Diaspora is one way Middle Eastern chromosomes entered Europe. But because so little work has been done on the rare K2 lineage, “our research raises the possibility, but doesn’t help anyone to answer it either way,? Dr. Jobling said.

As Ethics Panels Expand Grip, No Field Is Off Limits

Have institutional review boards (IRBs) overstepped their bounds? Patricia Cohen reports on the widening jurisdiction of IRBs and the effect it is having on academic activities and research outside of the biomedical sciences.

Money quote:

Ever since the gross mistreatment of poor black men in the Tuskegee Syphilis Study came to light three decades ago, the federal government has required ethics panels to protect people from being used as human lab rats in biomedical studies. Yet now, faculty and graduate students across the country increasingly complain that these panels have spun out of control, curtailing academic freedom and interfering with research in history, English and other subjects that poses virtually no danger to anyone.