Genetics has taken a big step in trying to understand what turns genes on or off

More break-thru science in medicine.  I really like Johns Hopkins University School of Medicine.  I've been aware of some of their work over the years, and have been impressed.  Now this development that seems to be to be truly path-breaking!

-- Albert Gedraits


New York Times (Jan23,2k12)

Study finds how genes that 

cause illness work

By GINA KOLATA

Published: January 20, 2013

It has been one of the toughest problems in genetics. How do investigators figure out not just what genes are involved in causing a disease, but what turns those genes on or off? What makes one person with the genes get the disease and another not?

Drew Angerer/The New York Times

Dr. Andrew Feinberg

Now, in a pathbreaking paper, researchers at the Johns Hopkins University School of Medicine and the Karolinska Institute in Sweden report a way to evaluate one gene-regulation system: chemical tags that tell genes to be active or not. Their test case was of patients with rheumatoid arthritis, a crippling autoimmune disease that affects 1.5 million Americans.

It was an investigation of epigenetics, a popular area of molecular biology that looks for modifications of genes that can help determine disease risk.

“This is one of the first studies that looks for an epigenetic disease association in a really rigorous fashion,” said Dr. Bradley Bernstein of Harvard, who was not associated with the study.

Kun Zhang of the University of California, San Diego, made a similar observation.

“I am quite impressed with their level of rigor and sophistication,” he said. In previous genomic studies, researchers with papers in leading journals “have made major claims, but after a few months or a year they were retracted,” he said. Those investigators, Dr. Zhang added, “did not treat their data very carefully.”

In the new study, researchers compared 354 newly diagnosed rheumatoid arthritis patients and 337 healthy people who served as controls. The goal was to review both groups’ white blood cells, examining their DNA for chemical tags — methyl groups — that could attach themselves to genes and turn them on or off.

It was much more complicated than just studying genes themselves. Researchers know a gene will remain stable, but the chemical tags that turn the genes on and off are not so reliable. Their presence can be affected by the environment or medications or even the activity of other, distant genes. They can be a consequence of a disease or set off a disease.

“That’s the problem,” Dr. Bernstein said, “the arrow of time problem.” What is cause and what is effect?

It is known that genes are not the entire story in rheumatoid arthritis and other common diseases, said Dr. Timothy Spector, a professor of genetic epidemiology at King’s College London, who was not associated with the study. For example, though identical twins have identical DNA, they do not always get the same diseases. With rheumatoid arthritis, he added, if one twin gets the disease, there is only a 12 percent chance that the other will, too.

In their paper, published Sunday in Nature Biotechnology, the researchers reported measurement techniques that enabled them to sort things out. They found hundreds of chemical tags but only four that seemed truly related to the disease. Those four were in a cluster of genes that controls the immune response and that was known to affect the risk of rheumatoid arthritis, said Dr. Andrew Feinberg of Johns Hopkins, a lead author of the study. In particular, the tags were in a gene called C6orf10 whose function is unknown.

The chemical tags may help determine if a person with a gene that increases risk of developing a disease actually gets the disease. There were people in the control group who had gene variations associated with arthritis risk, but they did not have those four chemical tags and did not have the disease.

The work, Dr. Feinberg emphasized, does not contradict genetic studies pointing to disease susceptibility.

“Instead, it complements them,” he said. “It is another arrow in the quiver.”

Hereditary cancers of the breast and ovaries -- shoud genetic research companies own sole-patents to genetic therapies -- or shoud USA's patients also be part owners?

It seems to me that this is a both/and situation, and the the USA Supreme Court shoud force the two sides to reach a compromise where both get their basic points met without further ado.  I think the patients, here especially hi-risk patients of hereditary breast cancer and ovarian cancer, obviously two female-specific health conditions, which a largely-male Court runs the risk losing its juridical credibility if it goes in favour of the corporation involved, the whole USA population of female patients shoud get the tilt, if justice has to tilt one way or another.  Add to the patients the interests of scientists and medical doctors, the American Medical Association (with which I don't always agree), AARP (likewise), and women's health groups (certainly I disagree with those which want to enforce taxation on everyone to support the promiscuous sexual morals they advocate), still taken together this is a formidible array of concerned people opposed to patenting human genes pure and simple.  So, let's get back to the patients who may be and some who are known to be at hi-risk for hereditary breast cancer, and hereditary ovarian cancer.  These potential and actual patients shoud come first in all the disiderata the Court may have to wei.

-- Albert Gedraitis


New York Times (Dec1,2k12)

Supreme Court to Look at a Gene Issue

by ADAM LIPTAK

Published: November 30, 201

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WASHINGTON — The Supreme Court announced on Friday that it would decide whether human genes may be patented.  ....

The case the court added to its docket concerns patents held by Myriad Genetics, a Utah company, on genes that correlate with increased risk of hereditary breast and ovarian cancer.

The patents were challenged by scientists and doctors who said that their research and ability to help patients had been frustrated. “Myriad and other gene patent holders have gained the right to exclude the rest of the scientific community from examining the naturally occurring genes of every person in the United States,” the plaintiffs told the Supreme Court in their petition seeking review. They added that the patents “prevent patients from examining their own genetic information” and “made it impossible to obtain second opinions.”

The legal question for the justices is whether isolated genes are “products of nature” that may not be patented or “human-made inventions” eligible for patent protection.

A divided three-judge panel of a federal appeals court in Washington ruled for the company. Each judge issued an opinion, and a central dispute was whether isolated genes are sufficiently different from ones in the body to allow them to be patented.

“The isolated DNA molecules before us are not found in nature,” wrote Judge Alan D. Lourie, who was in the majority. “They are obtained in the laboratory and are man-made, the product of human ingenuity.”

The company urged the justices not to hear the case, saying that the “isolated molecules” at issue “were created by humans, do not occur in nature and have new and significant utilities not found in nature.” It has long been settled, the company’s brief went on, that “the human ingenuity required to create isolated DNA molecules” is worthy of encouragement and that its fruits are worthy of protection.

The plaintiffs in the case, Association of Molecular Pathology v. Myriad Genetics, No. 12-398, were supported by friend-of-the-court briefs filed by the American Medical Association, AARP and women’s health groups.  ....