Tami Flu

Detecting Cancer Through Music

Music and cancer do not go together, and I mean that in the context of this new technology:

A project at Harvard Medical School created a program to translate the signals from cells into musical notes. Normal signals will sound harmonious, abnormal signals like those coming from cancer cells will sound awful.

Listen to this –

Using date from a pre-existing colon cancer study, bioinformatician Gil Alterovitz and his team created a program that transforms complex genomic information into musical notes, so that abnormal data will sound discordant.

“When things go awry, such as in the case of p53-null mutant colon cancer cells under inflammatory stress conditions, gene expression varies slightly, and inharmonious chord progressions result. Listening to the results — a symphony of electronic harpsichords, recorders, flutes, and oboes — tells the story. (via The Scientist)

Cool isn’t it? The program has been so successful that Alterovitz has been contacted by the US Navy for monitoring sonar signals, and Verizon (the phone company) for keeping track of their complicated networks!

Post from: Genetics & Health

Finding the genes for myopia

A person with myopia can see closer objects better than distant objects (which appear blurred). A person with “high” myopia is so extremely nearsighted that only objects that are very near can be seen clearly, rendering the person as blind. Whereas a person with “mild” myopia may see object farther away as blurry but the person’s eyesight can still function.

A blurred vision.

Like most research in genetics, finding the genes for myopia has not been straightforward or easy. That’s because myopia has been defined, measured and classified in many different ways, in different studies. There’s high versus mild myopia or school versus adult myopia. How myopia is measured also differs from one group of scientists to another. And then there are the known and unknown environmental factors that influence how and why a person develops myopia! In scientific studies, it is often advised (and very helpful) to have the environment totally under controlled, and held the same across experiments. So this lack of uniformity between studies has prevented a more thorough and comprehensive analysis of the genetics. It’s rather overwhelming and frustrating!

Progress has been made in recent years, though. The more detailed article is found here, but in gist, potential genes for myopia have been identified:

Studies in “high” myopia found very strong evidence for autosomal myopia loci in chromosomes 18 (named MYP2 gene),  12 (MYP3) and 17. Studies in “mild” myopia identified several loci that may be partly responsible for myopia, including those in chromosome 11 (PAX6 gene region) and 22.

However, in many cases, further research really have to be done before someone can say “Eureka! I found it!”

image: flickr

Can too much reading cause eye problems?

Has your mom ever told you not to watch TV too closely? Have you been told as a child that reading too much (or cross-stitching too much) will hurt your eyes? That’s not too far out an idea, at all.

Severe myopia or nearsightnedness. Image: Flickr

Myopia or nearsightedness is a condition where one has trouble seeing objects that are farther away. Symptoms, usually developing in early childhood and teen years include squinting when trying to concentrate on an object far away, or holding an object very close to the face (to read, or to see it clearer). The person may want to sit very near the TV or computer close, and prefer to sit in the front of the class.

But does this mean that close-work and intensive reading cause eye problems?

Studies have shown that myopia is more common in some populations, such as the Ashkenazi Jews and Taiwanese where intensive studying and reading are encouraged; and in Singapore where certain jobs are visually-demanding. So certain kinds of exposures and tasks may contribute to myopia. BUT this is only part of the story.

Genes also play a major part, and plenty of studies already show that myopia is passed from parents to children. For example, myopia is more common in children of myopic parents than children of non-myopic parents.

So if scientists can identify myopia genes, treatments can specifically be created for children who are genetically more likely to develop myopia. Perhaps drug or gene therapies can even help make the condition less severe.

Tomorrow, we’ll look at some of the promising findings that point to genetic  factors of myopia.

image: Flickr

Note to self: Genetic risk is an estimate

I chanced upon this article - Genetic testing under the microscope - in the Los Angeles Times of an interview with the President of the National Society of Genetic Counselors, Angela Trepanier, and she presents an interesting perspective on the future of personalized medicine.

In the near future, Trepanier says that genetic testing will become a routine part of healthcare. Right now, access to one’s genetic information can be had for at least $400, and one is able to find out which diseases and conditions your genetic makeup may be association with. But the company doesn’t offer any medical opinion or diagnosis, obviously. Trepanier asks rhetorically, "If your only source of information is the company selling the test, is that really the most credible source of information?"

What’s the potential harm?
The emotional harm of finding out something that completely blindsides you, like [being at risk for] Alzheimer’s disease. There’s the financial harm of doing a lot of screening tests [for a disease] and then finding out five years later you never needed to do that. If you find out you’re at low risk for heart disease, then you don’t cut back on that extra hamburger, you don’t exercise. What if that’s against the medical advice you’ve gotten from your physician? That’s a potential harm.

Yup. Having a high genetic risk for something does not necessarily mean developing the disease, and corollary, having a very low genetic risk does not mean escape. Complex diseases such as asthma, diabetes, and even alzheimer’s are so dependent on the environmental component (and gene-environment interactions) that it’s hard to separate risks and variations. That’s why it’s called "risk" and at best it is only an estimate, a probability. There is still so much of the unknown in the equation.

Maybe I should really talk to someone from the inside of personal genome to understand what they’re offering.

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President Bush Signs Landmark Genetic Nondiscrimination Act (GINA) Into Law

Thank you to Alyssa Friedland  from Genetic Alliance for this press release - a momentous occasion in the field of genetics.  I have decided to issue the press release in its entire form.  You may think me biased but the arguments put forward in the statement are cogent, well thought out and they echo my own opinions.

What we need to do now is ensure that we take a responsible approach to this legislation and continue to ensure that the field of genetics is introduced into mainstream medicine ethically and to the highest clinical standards.

Elaine Warburton   www.geneticsandhealth.com

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President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law

The Coalition for Genetic Fairness (http://www.geneticfairness.org) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA).

GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings.

“This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY). “Since all of us are predisposed to at least a few genetic-based disorders, we are all potential victims of genetic discrimination. Today marks the beginning of a new era in health care,” continued Slaughter. “Americans can finally take advantage of the tremendous potential of genetic research without the fear that their own genetic information will be used against them.”

Just a few weeks ago, GINA received overwhelming support in both the Senate, with a unanimous vote of approval, and the House of Representatives, where the legislation was passed by a landslide vote of 414-1. “Individuals no longer have to worry about being discriminated against on the basis of their genetic information, and with this assurance, the promise of genetic testing and disease management and prevention can be realized more fully,” stated Sharon Terry, president of the Coalition and CEO of Genetic Alliance (http://www.geneticalliance.org).  “We applaud our champions on the Hill who have worked tirelessly to pass this important legislation. It is now our responsibility to make sure the public knows that these new protections are in place.”

The health insurance protections offered by GINA are expected to roll out 12 months after the bill is signed, whereas the employment protections will be fully realized in 18 months.

“Now that GINA has been approved and signed into federal law by the President, American health care consumers and employees will no longer have to fear the adverse effects of being tested to determine their risk status for genetic diseases,”said Joann Boughman, Ph.D., executive vice president of the American Society of Human Genetics (http://www.ashg.org) and a member of the Coalition’s executive committee. “Once this legislation has taken effect, clinicians will be able to order genetic tests for patients and their families in a manner that ensures the full realization of the advantages of personalized medicine, while also easing patients’ concerns about the risk of genetic discrimination by insurance companies and employers based on this data.”

Specifically, the legislation protects against genetic discrimination by health insurers or employers by:

* Prohibiting group health insurance plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of an individual’s genetic information. Insurance companies cannot request, require or purchase the results of genetic tests, and they are prohibited from disclosing personal genetic information.

*  Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

*  Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and they are also prohibited from disclosing personal genetic information. Similar provisions apply to employment agencies and labor organizations.

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