There’s a high likelihood that a disease of some sort affects you or one of your relatives — every family seems to have ripples in its gene pool that define and shape its health dynamics.

Your family might have a propensity for rheumatoid arthritis or a particular type of cancer. Whatever it is, there can be an instant family bond created by that disease — along with a sense of fate.

That feeling moves some families to action. The Heywood brothers started PatientsLikeMe when one of them, Stephen, was diagnosed with Lou Gehrig’s disease in 1998. Nancy Brinker created a huge force in breast cancer research through the Susan G. Komen Foundation, named for her sister who died of that disease. Michael J. Fox, a father of four, started his remarkable foundation after he was diagnosed with Parkinson’s disease at the age of 30.

But not everyone can garner the resources to create their own company or foundation; it’s hard to know where to turn in trying to make a difference. This summer, 23andMe is launching the Research Revolution to empower more people to jumpstart genetic research into the diseases that affect them and the people they love.

This new research model makes it possible for large groups of people to assemble themselves into large-scale genetic studies without having to raise millions of dollars in funding, and then wait years for things to get rolling. Participants also get access to their own genetic information through the 23andMe Personal Genome Service Research Edition, which offers a snapshot of what their data says about more than 100 diseases and traits. We believe that if you volunteer for research, you should be able to see what you’ve contributed to the effort.

The Research Revolution is going to start with the 10 diseases listed at the bottom of this post. There are several ways you can participate:

* Visit the Research Revolution page and vote for the disease you would most like 23andMe to study.
* If you’re already a 23andMe customer, log into your account and complete any of the 23andWe surveys you haven’t taken yet.
* Spread the word — especially to people who are patients or survivors of the 10 diseases we’re featuring.

There’s strength in numbers. The more people who enroll in the Research Revolution, the more likely it is to make new discoveries about the causes and about the treatments of disease.

Long live the revolution!

The 10 Research Revolution diseases are:

ALS
Celiac Disease
Epilepsy
Lymphoma and Leukemia
Migraines
Multiple Sclerosis
Psoriasis
Rheumatoid Arthritis
Severe Food Allergies
Testicular Cancer

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Millions of Americans suffer from the itchy, scaly skin brought on by psoriasis. In mild cases the condition is only a nuisance, but in the most severe cases it can be painful, disfiguring, and disabling.

Although the what of psoriasis is largely understood –immune cells mistakenly attack healthy skin cells, triggering further immune responses that lead to an overproduction of skin cells — – the why is not. Environmental factors, such as infections and injuries, may play a part, but twin studies have suggested that genetics has an even larger role.

Recent studies have started to unravel the genetics of psoriasis, showing that variations in several immune system genes can increase the odds of developing the disease. Now three studies, published online yesterday in the journal Nature Genetics, add to the list of variations associated with psoriasis and expand previous findings among Europeans to an Asian population.

Using data from more than 6,000 psoriasis patients with European ancestry and an equal number of unaffected controls, Rajan Nair and colleagues from the Collaborative Association Study of Psoriasis found seven genetic variations that were significantly associated with increased odds of developing psoriasis. All of these variations were in immune system-related genes, in keeping with previous research.

(Two of the variations identified by Nair et al are equivalent to SNPs already included in the 23andMe Health and Traits Clinical Report on psoriasis. Details of the four of the other five SNPs, and all others discussed here, are included in a table at the end of this post. Data on one SNP, near the TNIP1 gene, is not currently available from 23andMe.)

The second report, authored by Rafael de Cid and colleagues from several institutions in the United States and Europe, found a deletion of about 32,000 DNA bases that increases the odds of psoriasis. Their study used data from about 2,800 psoriasis patients and controls from the U.S., Spain, the Netherlands and Italy.

This deletion compromises two genes, LCE3C and LCE3B, which are part of a larger group of genes called the LCE gene cluster that are involved in the proper development of skin cells. de Cid et al speculate that other LCE genes are usually able to make up for the loss of LCE3C and LCE3B, but not perfectly. The result is skin that can become “leaky” due to injuries, allowing allergens and bacteria to penetrate the protective barrier of the skin. In someone with other risk factors for psoriasis, this could be enough to set off the inflammation characteristic of the disease.

(23andMe customers can use data for a SNP located near the deletion as a proxy for this variation.)

This week’s final Nature Genetics report on psoriasis comes from Xue-Jun Zhang and colleagues, who looked at SNPs in a large group of Han Chinese people (more than 5,000 patients and 6,500 controls) and a smaller group of Chinese Uygurs (539 patients and 824 controls). According to the authors this is the first study of its kind to examine genetic variations linked to psoriasis in the Chinese population.

Zhang et al. found three genetic variations associated with psoriasis in the Chinese population. Two of these – located in the HLA and IL23A genes – were replications of well-established associations in Europeans. The third association was in the LCE gene cluster, supporting the association in this same region found by de Cid in Europeans.

The results of all three studies may help scientists better understand psoriasis, but as Nair et al point out, they are only the beginning of a long road. Researchers will need to look more closely at the regions of the genome identified in these and other studies to find the true causes of the risk increases they have seen. The SNPs found so far are likely to only be signposts pointing the way. Further studies, using larger sample sizes and drawing together the findings of multiple research groups, will also be needed to uncover the many other genetic variations that likely contribute to psoriasis.

*”Effect” is the increase in odds compared to someone with two copies of the non-risk version of each SNP.

Europeans

Chinese

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