Monthly Archives: February 2017

Every woman who had ovarian or breast cancer with the BRCA1 and BRCA2 mutation, and was detected after her diagnosis, is a missed opportunity to prevent a cancer. No sister or daughter of a person with such a mutation should die of breast or ovarian cancer, it doesnt have to happen; it is completely preventable, Mary-Claire King, Professor of Genome Sciences at the University of Washington, said here on Monday. In a sense, it all began with Prof. King after she identified the mutation in the BRCA1 gene that causes breast cancer.

Genetic testing is crucial for prevention, treatment, and families, Prof. King underlined throughout her lecture on Understanding Inherited Breast and Ovarian Cancer: From Gene Discovery to Precision Medicine and Public Health. Prof. King was in Chennai for the first Cell Press-TNQ India distinguished Lectureship Series, 2017. She will be speaking in three other cities: Bengaluru on Wednesday, New Delhi on Friday, and Kolkata, the following Tuesday.

Prof. King also had a proposition for India to undertake to test genetically every breast and ovarian cancer patient for the BRCA1 and BRCA2 and all other known breast and ovarian cancer genes. The yield in testing of patients will probably be 18 per cent of ovarian cancer patients who have a mutation in one of these genes and about 10-15 per cent of breast cancer patients who do, with a higher proportion of younger women.

Informed choice

She went on to add that it was important because a patient who finds that she has a mutation can decide whether to remove her ovaries and fallopian tubes in her late 30s or 40s so that she does not get breast cancer; that her sisters and daughters can be aware that they should undergo genetic testing ideally. If they are resistant to that, then they can be subject to surveillance, at least. The sister or daughter of a patient with such mutations has a 50-50 chance of acquiring a mutation herself, the geneticist said.

The costs for such testing have come down drastically, Prof. King said. The cost is much less, even lower than it was a year ago. For instance, in the [United] States, in Indian terms, it costs about Rs. 15,000 to test all the genes all at once. It used to be 20 times that just a couple of years ago. She also touched upon the new Broca Gene Panel available now, that runs a single blood sample through tests for all known classes of mutation that cause breast and ovarian cancer.

Prof. King came back many times during her lecture to the role of menarche in breast cancer. When menarche occurs at a younger age, good epidemiological evidence suggests that the interval between menarche and child birth has a direct relationship with the risk of breast cancer. As the interval increases, the risk also increases, she explained.

Generational change

One study showed that women born before 1958, have, a lower risk of developing breast or ovarian cancer, than say, women born after 1958. This cannot be genetics. This difference is, I think, the same reasons that we see a rapid increase in incidence of breast cancer. Between these generations, there was change in womens lives.

Of course, plenty of women who do not carry the mutation, have the disease too. Some of the women actually have inherited the mutation from the father and not the mother. Their decision to go in for prophylactic surgeries removal of the ovaries and fallopian tubes, and/or double mastectomies depends on their personal experience. Most women who go in for surgery have watched a mother or sister die of breast or ovarian cancer, Prof. King explained.

N. Ram, chairman, Kasturi and Sons, introduced the speaker, while Mariam Ram, MD, TNQ Books and Journals, spoke of the lecture series through the years.

Emilie Marcus, CEO, Cell Press, announced the names of the finalists of the Inspiring Science awards: Balaji Banoth, Vijay Soni, Richa Pahuja, Abhishek Trivedi, Pankaj Kumar Dubey, and Ramya Purkanti.

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Screening of kin of breast cancer victims vital, says genome expert - The Hindu

CRISPR-Cas9 is a precise method of gene editing. It can snip a gene out of the DNA sequence say, a harmful mutation then add a healthy gene to replace it. This new but exciting technique is being used in clinical trials to treat things like hereditary cancer. It could also be a godsend for certain genetic diseases, such as Huntingtons or Tay-Sachs disease, among others. Experimental studies with cancer and blindness are slated to reap benefits this year.

Despite the great promise this new technique affords, there is controversy surrounding applying it to human embryos. One such concern is creating designer babies. Another is accidentally creating a hereditary disease and allowing it to enter the human genome. This could be passed down from parent to child, dooming future generations. But some fear that stifling regulation suppresses innovation and the march of progress. So, of course, there needs to be balance between regulation and freedom of exploration.

The National Academy of Sciences (NAS), aware of the growing debate, put together a committee of experts last year to consider the ethical quandaries the technique presents when applied to human embryos. It's just recently released its report, a full 261 pages, which suggests allowing CRISPR to be performed on embryos in certain instances, and barring others. The committee concluded that cures for serious diseases and disabilities should be allowed, especially when conventional medicine offers no reasonable alternative. But the advisory panel wont abide designer babies or the creation of super soldiers.

The committee suggests opening the door a crack, and allowing gene editing on embryos for research on certain diseases.

Richard Hynes co-chaired the committee. He wrote that since the science is flying by at an outrageous clip, we should keep a tight grasp on it for now. You want to have a good control of what is being done, he wrote. Chinese scientists have already modified the DNA of five embryos as of 2015, using this technique. Sweden is also conducting advanced experiments, fueling the fear that the US could fall behind.

Many hailed the NAS committees move. This framework should allow for more cancer studies and those on genetic diseases, like retinal degeneration, which can lead to blindness. But some say, the guidelines are still too stringent. There are a lot of genetic diseases such as muscular dystrophy, sickle cell anemia, or even Parkinsons, which may benefit from CRISPR experiments. But the panel fears allowing a technique whose outcome isnt entirely known.

University of Wisconsin ethicist Alta Charo was a co-chair of the advisory group. She said that although off-label uses, or those which a drug wasnt intended for, are tolerated with pharmaceuticals commonly, gene editing of embryos would not allow such a practice. Whats more, a social consensus is needed before the gene editing of embryos becomes common practice. It is essential for public discussions to precede any decisions about whether or how to pursue clinical trials of such applications, said Charo. And we need to have them now.

Some fear that this technique could someday be used to add muscle tissue to a persons body to make them stronger or faster, or neural manipulation will be performed to reap greater intelligence. Gene editing may even allow for certain anti-aging features to become available. This last one might be allowed as a sort of preventative medicine.

With these guidelines, Charo and colleagues were clear: you can use gene editing to undo illness but not enhance the human body. Some geneticists find the prospect of genetic enhancement ethically inviolable. Even so, the technique is not able to perform such feats, yet. Genome editing to enhance traits or abilities beyond ordinary health raises concerns about whether the benefits can outweigh the risks, and about fairness if available only to some people," Charo said.

This research could create a backlash. Committee members point out the need for a societal consensus on the gene editing of embryos, before it becomes commonplace.

Should we continue to embrace individuality, or are we destined to edit out everything that makes us unique, creating a race of beautiful, bland, healthy geniuses, and in the end, losing heterogeneity? With it could go innovation, novelty, uniqueness, disruption, and creativity. After all, it is usually the mavericks, the marginalized, and the outliers that revolutionize society. Or would a startling divide be born, between those who could afford gene editing and those who couldnt?

The philosopher Alan Watts once said that if we reached the point where we could design people, we should make as diverse a group of possible, so to have enormous flexibility. For who knows what kinds of people will best populate the late 21st century and beyond.

These guidelines posit a tight way of allowing the exploration of CRISPR for use in the human genome. Currently, the FDA bars the germline engineering, or gene editing, of human offspring. But the guidelines are meant as a crack of light, showing the way, but also a way of beginning the conversation of how we should proceed.

To learn more about the issues surrounding gene editing, click here:

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Genome Editing Has Begun How Will It Be Controlled? | Big Think - Big Think

Sometime very soon the first humans to be genetically edited will be born, and the United States just paved the way.

In December 2015, scientists and ethicists at an international meeting held at the NAS in Washington said it would be irresponsible to use gene editing technology in human embryos for therapeutic purposes, such as to correct genetic diseases, until safety and efficacy issues are resolved.

On February 14th, 2017; the National Academy of Sciences and the National Academy of Medicine issued a report outlining the permissible circumstances upon which the research into editing human embryos could be conducted.

Their latest statement signals that the NASis softening its approach, to the use of gene-editing technology such as CRISPR-CAS9.

Previously genome editing was already being planned for use in clinical trials on people to correct diseases. However, the primary concern is over the utilization of the technology in human reproductive cells or early embryos because the changes would be passed along to offspring.

Although gene editing of human reproductive cells to correct inherited diseases must be approached with caution, caution does not mean prohibition, the committee said in a statement.

The rise in genome editing signals the real end of the human being. Simply put, directly after the first genome alteration and birth, the natural genome would be something entirely man-made.

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The USA Just Approved HUMAN Embryo Genome Modification Research Paving the Way For Designer Babies - The Christian Truther

UANews (press release)

'Feeding Your Genome' Conference Scheduled at UA UANews (press release) To that end, the Department of Nutritional Sciences, part of the College of Agriculture and Life Sciences, will host the "Feeding Your Genome: Precision Nutrition and Health" conference Feb. 22-24 at the UA. The conference agenda, with event locations, ...

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'Feeding Your Genome' Conference Scheduled at UA - UANews (press release)