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Dr Adrian Charbin – the man himself

Here we will discuss hot and current topics in the world of science, where important new discoveries and research flashpoints will be shared and discussed. Oxbridge interviewers often ask about current scientific affairs, so it is very important to be aware of new developments and have informed opinions on them! This blog is written by Dr Adrian Charbin, who studied Natural Sciences at Sidney Sussex, Cambridge. Having specialised in genetics in his final year, Adrian went on to complete a PhD in Biochemistry and Molecular Biology while working for Cancer Research UK and University College London.

Infectious Disease

As winter draws to an end, we like to think that the worst of the flu season is behind us. However, reports have been springing up with increasing frequency regarding a new strain of avian influenza, termed H7N9, which has so far killed 11 people in China and made many other people critically ill. While so far the virus does not seem to spread from person to person (a key step in the development of an epidemic) health officials are closely watching more than a thousand people who have been in contact with sick people for signs of illness.

While the doctors keep an eye on the infected, immunologists have been digging into the genetic material of this new influenza strain to determine its origins, in the hope that by better understanding how the strain developed, we can better treat those infected.

The virus is a relative of ones found in birds, and some of the sick people had contact with poultry, but this influenza is not deadly to poultry like other avian influenzas, such as H5N1. This makes life more difficult for public health officials as poultry deaths are often an indicator of where human cases might appear and indeed so far, health officials haven’t found the source of the infections. However, genetic analysis of the viruses isolated from the first three patients to contract the illness suggests why it has been difficult to find an animal reservoir: the virus probably doesn’t make birds sick. As a result, it spreads stealthily through poultry populations, study co-author Rongbao Gao of the Chinese Center for Disease Control and Prevention and colleagues report.

By comparing the DNA of the viruses from the patients to other influenza viruses, the researchers discovered that this new H7N9 is a mix of three different bird flu viruses.

A computer generated model of an avian influenza virus (source)

A protein called hemagglutinin (which gives the virus name its H), helps the virus grab on to cells in the respiratory tract. That protein most closely resembles that from an H7N3 virus isolated from a duck in China’s Zhejiang province, the researchers found.

The virus’s neuraminidase protein (the N in the name), which helps the virus escape from infected cells, is similar to those from an H7N9 virus in a Korean wild bird. Although the Korean bird virus is also an H7N9 virus, its hemagglutinin protein is quite different from the one found in the sick people. The new virus’s remaining genes probably came from an H9N2 virus similar to one found in Beijing in finch-like birds called bramblings.

The three viruses could have infected a single bird and swapped genes, producing the new strain. Or the mixing could have happened in several steps. Such re-assortments are common among influenza viruses and create new versions that host immune systems haven’t learned to fight. Mutations may then allow the bird viruses to infect mammals and to spread more easily.  The fear is the creation of a strain that is contains a ‘perfect storm’ of genes, conferring high infection rates, low response to treatment and hence high mortality of the infected.

Medical Ethics

Can the information stored in the human genome be rightfully claimed as intellectual property? The Supreme Court announced Friday it will hear arguments in a case challenging patents on genes that possibly cause breast and ovarian cancer.

The genes, BRCA1 and BRCA2, have been associated with hereditary forms of breast and ovarian cancer. The plaintiffs argue that Myriad Genetics’ patent hinders potentially life-saving cancer research and patient access to diagnostic testing. They are also pushing for the courts to recognize genes as “products of nature” and, therefore, un-patentable.

Conversely, Myriad argues that they do not own the patent on the gene itself; rather, they own the patent on the process for isolating the gene. The company also argues that patents on genes create a financial incentive for companies to fund genetic research.

The plaintiffs include genetic counsellors and researchers, patients, cancer and women’s health organizations, and medical professional organizations. Lisbeth Ceriani, a breast cancer survivor and plaintiff in the case, had to pay Myriad over $4,000 to receive genetic testing to see if her breast cancer was hereditary. “Women should not have to go through what I went through in order to take care of themselves and continue to take care of their families,” said Ceriani. “My genes belong to me. Knowledge about my own body should not be held hostage by a corporation.”

If the Supreme Court rules in favour of the plaintiffs, gene patent owners will no longer be able to threaten to shut down clinics that offer genetic testing, doctors and researchers will be able to test multiple genes at once to determine the ways they work together, and patients wouldn’t be barred from gaining a second opinion or lower cost test because of the current monopoly on single genes.

Did you know 20% of your genes have already been patented?

While patenting genes is extremely profitable, and may motivate some companies to enter in to genetic testing, the monopoly on scientific research these patents induce cripples the scientific community. Given that over 20% of human genes have already been patented, the upcoming ruling to be made by the Supreme Court will have significant consequences for how the pharmaceutical and biotechnology industries approach the development of new technologies to treat, diagnose or predict genetic disorders.

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