Often, finding the gene(s) that cause a disease is like the proverbial needle in a haystack. And in very rare cases, it’s Pleuropulmonary blastoma (PPB) is a rare childhood lung cancer where cysts and/or solid tumors grow in the lungs of children anytime from birth to about 7-8 years of age.

Malignant cancer cells. Image: Newscom

Only about 50% of patients with PPB are successfully cured of the cancer, and the prognosis becomes better with early diagnosis. One fourth of children with PPB have other types of cancers in their bodies (personal history) or in other family members, so there is a clear genetic factor involved.

A recent study found very interesting results that could help scientists understand how cancers develop. Results from a molecular study found that that a master controller gene called DICER1 was responsible for PPB. A mutation in the DICER1 gene will cause the expression of other genes to go out of control. And somehow, DICER1 deregulates those signals to nearby cells and turns those cells malignant. However, the cells with the mutated gene do not turn malignant. It’s really very interesting because it explains how other types of cancers are also found in children with PPB.

The International PPB Registry has links to the study abstract presented at the 100th Annual American Association of Cancer Research.

via PRNewswire

HA! Don’t laugh, but this study found genetic evidence that our neighbors across the pond have a unique sense of humor, and apparently it’s the negative kind.

Twins share a humor gene

A survey of 4,000 twins suggested that British humor, those that are filled with sarcasm and self-deprecation, is linked to genes in British men and women, but not shared by Americans!

The “positive” kind of humor, like telling jokes and looking on the bright side, is shared by both sides of the Atlantic. But the negative kind, like biting sarcasm and teasing, are genetically linked only in Britain.

The researchers admit that developing a taste for either kind of humor is an interplay between genes and the environment but it’s interesting to note the difference between the two nationalities.

But here’s what English actor and comedian Charlie Higson had to say about the jokes that Americans and British tell:

“What they [Americans] don’t understand is the British desire to keep putting themselves down, but they fully understand irony. Their humour is considerably more sophisticated than British humour. Look at their sitcoms – the level of wit and sophistication in Friends – we don’t have anything to match that. Ours tend to be about silly people doing silly things, whereas in America, it’s clever people doing clever things.”

OK, now you can laugh.

Source: Independent.co.UK ; Image: sxc.hu/greyman

Depending on the source, stroke is considered as either the third-leading or second-leading cause of death worldwide. Neither one is a comforting thought, isn’t it?

Image credit: Newscom

What factors can increase one’s risk for stroke? Blood pressure, smoking, obesity, cholesterol, diet, physical inactivity and alcohol are responsible for two-thirds of stroke risk. Genetic factors also play an important role, but scientists have not found any common genetic markers associated with an increased risk for stroke. Until now.

A large study found single-nucleotide polymorphisms (SNP) on chromosome 12p13 that individually increased the risk of stroke by as much 30 percent. The markers were located very near the gene NINJ2, which encodes a protein that is involved in nerve injury.

The study is published in the New England Journal of Medicine on April 16.

Image: Newscom

Competition is certainly good for us. One by one, the big league universities in the Boston neighborhood are going OPEN ACCESS.

Open access to publications. Image: sxc.hu

Open access publishing means that research works can be read (online) and used freely by the public without paying subscription fees to journals and publishers. I know personally how expensive it is to subscribe to just one journal, and the information from abstracts are really so limited that having more open access journals is just good for the science.

Last January, the University of California and publication giant Springer agreed to have articles written by UP-affiliated authors to be published immediately and in full, even if the rest of Springer’s articles remain subscription-only.

In early February, Harvard University’s Arts and Sciences agreed to support an open access system. Harvard faculty will also be required to only submit to journals that will publish their work online immediately after acceptance for publication. Following suit, Boston U and MIT independently announced that the work of faculties all across their universities will be accessible to the public for free.

Lest anyone get the wrong idea: Open access is not free. University libraries have to pay open-access journals to have their research published, and the cost for pre-pay memberships have gone up in the last few years. The public does not need to pay subscription fees, but the researchers do. So, MIT will now be storing their research materials at the MIT DSpace : http://dspace.mit.edu/. Boston and Harvard are also working on their own online repositories.

Hopefully, more universities will follow and set up their own websites, or partner with publishers to get the cost of publication lowered and open-access more available.

Image: sxc.hu

A person with restless leg syndrome (RLS) has an irresistible urge to move the body to temporarily stop odd sensations in the legs. RLS causes uncomfortable sensations in the legs or arms that have been described as “burning, itching, tickling sensation” likened to hundreds of ants crawling in the muscle.

Anywhere from 7% to 10% of the population in North America and Europe suffer from RLS, and it is more common in women than men, those with iron deficiency, end-stage renal disease or pregnancy. RLS also becomes more severe with age. Symptoms are worse at night or when the limbs are at rest or inactive. There are medications for treating RLS but the NIH acknowledges that it is difficult to properly diagnose. And one drug that helps one patient may actually make it worse for another.

The Mayo Clinic Proceedings has recently reported that Mayo Clinic scientists found a large Indiana family (7 generations and 88 members) with restless leg syndrome. The researchers tested the family for genes and locations that have previously linked to RLS but could not find any linkage. The scientists believe that a novel gene may be responsible for restless leg syndrome in this family.

Research is a long way from ultimately identifying that gene, but if there ever would be one, then scientists can investigate its normal and mutated function. Discoveries like that could lead to new drug therapies for RLS.

The article appears here - Mayo Clinic Proceedings February 2009 vol. 84 no. 2 134-138 and the report here - Mayo Clinic Researchers Suspect a Novel Gene is Causing Restless Legs Syndrome in a Large Family

image: sxc

With the new administration comes a new NIH Director and the name that has been heard most often is none other than Francis Collins, former director of the National Human Genome Research Institute.

While with the NHGRI, Collins led the Human Genome Project that has become the foundation for almost every mapping project in the field. He also paved the way to have genetic data become open source and freely available to the wider scientific community.

So, is Collins the shoo-in to head the bigger National Institute of Health leadership? When asked, all Collins replied was, “No comment.”

What’s your take? Want Collins in or not? Take the poll at Genome Technology.

Image: Newscom

With all the growing excitement, hype and inquiry surrounding personal genome testing, I was wondering when the National Institute of Health would join the fun.

With a $600,000 grant from the NHRGI, the Genetics and Public Policy Center of Johns Hopkins will begin conducting studies to understand the new direct-to-consumer genetic testing industry. And it’s about time.

It’s the Sunday edition of Genetics and Health so let’s sum up some of the genetic research and news that came up this week.

A grand rounds lecture "Molecular Genetics of Colorectal Cancer" by Vincent Yang presents an overview on the role of genes in colorectal carcinoma, and shares initial findings on a cell cycle modulator gene.

The NY Times article, "Man Who Helped Set the Stage for Nobel-Winning Work Has Left Science" profiles Dr. Douglas C. Prasher, the scientist who provided the essential piece of evidence that helped the work of Nobel Price Chemistry winners Roger Y. Tsien and Martin Chalfie. You’ll be surprised to find out Dr. Prasher’s latest employment.

A "pleasure" gene is behind an obese person’s insatiable desire to eat more.

The Personal Genome Project is open for business and it’s looking for volunteers agree to make public their medical history AND DNA sequence. PGP is a nonprofit, volunteer database project by Harvard University.

It’s already been done with cervical cancer, so why not develop a vaccine for breast cancer? That’s the challenge that Professor Valerie Beral of Oxford University asks the scientific community.

The lead scientist in the Million Women’s Study says that the causes of breast cancer have been so well studied that a vaccine or a prophylactic drug is should be a real possibility. Speaking to the UK Guardian, Beral suggested that genes played a part in only a small number of breast cancer. Instead, it’s the processes of birth and breastfeeding that protect a woman from breast cancer more than anything else.

It’s interesting that the short-term exposure during late pregnancy and prolonged breastfeeding were postulated to have protective effects against breast cancer development. Unfortunately, less than a dozen scientists are looking into this possibility. Adds Beral -

"It is not well-funded. It is not mainstream research. Why isn’t it a priority of the cancer community?"

Why indeed?

SHOUT OUT: October is Breast Cancer Awareness Month, and Karen at Pink Ribbon Review is all about being an advocate for the disease.

© Vladislav Gansovsky - Fotolia.com

If I were giving career advice to my son (who’s only four-years-old by the way), I would tell him to consider going into informatics. And if I were really pushy, I’d suggest bioinformatics. With computing power increasing exponentially and the internet offering up overwhelming amounts of information, we need people who can figure out a way to organize it all so the rest of us can actually deal with it. One such person is Stew (pseudonym) of Flags and Lollipops and postgenomic. I’m glad he took time out of his busy schedule working at Nature in the web publishing department to do this genetics interview for us!

1. You work in bioinformatics which I think is the glue that holds the genome revolution together. What kind of role do you think bioinformatics plays?

I’d agree: modern day genetics relies on vast quantities of data that you couldn’t begin to navigate or process efficiently without software of some sort. Nowadays sequence ‘search engines’ like BLAST and genome browsers like Ensembl are standard tools for genetics researchers. On an even more basic level, without sequence alignment algorithms there’d be no complete genomes to search or browse in the first place.

That’s the data processing side of bioinformatics. It’s also got a role to play in creating new data from the old. By doing clever things with existing information you can, for example, take a novel gene, feed it through machine learning algorithms and get back a predicted function based on the sequences of genes that have already been studied, or model a particular process in a cell, or predict which point mutation out of many on a particular gene is most likely to be responsible for causing some disease.

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