May 16 2012

Quiz Answers: Heritability Demystified

Published by under genetics 101

Last week we quizzed our readers on heritability, a genetics concept that is often misinterpreted. Congratulations to Monica P., the winner of the quiz! She got all the answers correct and will receive an Amazon gift card. Read on for the answers and to learn more about what we can say about nature vs. nurture…

by Emily Chang and Chuong Do



This image shows the heritabilty of several diseases; the font size is proportional to the heritability of the disease. Celiac disease, for instance, is highly heritable, whereas lung cancer is much less heritable. Click on the chart to see a larger version. (Source: Chuong Do, unpublished manuscript)

What can you blame for those extra pounds, your great grandma Bertha’s obesity or that extra bowl of ice cream? “Nature” and “nurture” are commonly pitted against each other in discussions on genetics, but for most disease, both play a contributing role. In any population, individuals vary in their propensity for developing a given disease.  The proportion of this variation in the population that can be explained by genetics is known as “heritability.”

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May 16 2012

Genetics and the Risks from Traumatic Brain Injuries

An editorial in today’s Science Translational Medicine about traumatic brain injuries, genetics and the long-term risks for degenerative brain disease caught our eye.

According to the authors, the suicide of former star NFL linebacker Junior Seau, a death that mirrored other suicides of former NFL players who’d suffered degenerative brain damage, prompted them to provocatively ask whether prospective players of high impact sports or future soldiers should be genotyped to gauge their long-term risks from traumatic brain injuries.

Sam Gandy and Steven T. DeKosky point out that studies clearly link a person’s APOE-4 status — a genetic variant associated with higher risks for Alzheimer’s disease — with an increased risk for degenerative brain disease in response to traumatic brain injuries.

Would you want to know if your son or daughter had a higher risk?

I would. In fact, I do know because my kids have been tested. Continue Reading »

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May 15 2012

Getting a Handle on Women’s Fertility

Although the majority of respondents to 23andMe’s Female Fertility survey stated that they weren’t trying to conceive the first time they became pregnant, around 13% said that they had tried or were currently trying to become pregnant, a percentage that’s on par with the national infertility average of 10-15%.

Infertility is defined as not being able to get pregnant after having frequent, unprotected sex for a year (or for six months if the woman is 35 or older). Although an infertility diagnosis can be frustrating, it doesn’t necessarily mean that you’ll never get pregnant — in many cases it just means that medical attention might be needed to secure a bambino!

Difficulties conceiving can stem from female or male problems (or both) and the causes vary, ranging from hormonal to structural, genetic, pharmacological or environmental. Other medical conditions including cancer and its treatment can also contribute to infertility and it’s been suggested that about 12% of cases are simply due to the woman being over or underweight. In about 20% of cases, however, the cause of the infertility is a mystery.

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May 14 2012

From Menarche to Menopause

Published by under genetics 101

Two of the biggest physical milestones in a woman’s life are menarche (pronounced “MEN-ar-kee”), the first menstrual period in girls, and menopause, when menstruation stops and female reproductive hormones slow. These milestones are universal and mark the beginning and end of a woman’s reproductive cycle.

Research suggests that the age at which menarche and menopause occur is about 50% influenced by genetics and 50% determined by non-genetic factors, though there is also some evidence that menarche may be more strongly influenced by genetics than menopause. Continue Reading »

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May 12 2012

Thanks for the Mito Mom!

Published by under 23andMe and you

Mothers are special on so many levels. We cherish them for loving us and imparting important life lessons… and for giving us mitochondria (or “mito” for short)! Mitochondria are small, roundish structures inside of cells that produce cellular energy. They have “zigzag insides” and their own DNA, which can be used to trace a person’s maternal line.

Mother’s day marks the beginning of National Women’s Health Week. We’ll be running posts all week about universal female milestones (menarche and menopause) and a variety of other women’s health topics. Stay tuned!

 

 

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May 11 2012

National Cancer Research Awareness Month

Cancer is not one disease, but many.

Even looking specifically at breast cancer or sarcoma, the more researchers study these diseases, the more they understand that there are many different kinds of breast cancer and sarcoma.

This has been one of the most challenging aspects of researching cures for cancer.

This month is National Cancer Research Awareness Month, and 23andMe is highlighting our work in cancer research. We’re also talking to some of the people involved in the research and letting you know about some of the more exciting developments in the field.

• Do you have sarcoma, or know someone who does? Learn how to join our Sarcoma research community today.

• Do you have an MPN, or know someone who does? Learn how to join our MPN research initiative today.

•  If you or someone you know has been diagnosed with metastatic breast cancer, check out our innovative online study with Genentech.

Earlier this year, George Demetri, a doctor and scientist who is an unpaid advisor to our Sarcoma research initiative, noted how different sarcomas were. Not just under the microscope but when you look at them at the genetic level. Dr. Demetri said, this is where 23andMe’s research model offers so much promise. Using genetics may help us connect the right patient to the right drug. It can help change the one size fits all approach to clinical research and it holds the promise of other targeted medicines.

Scientists have found specific mutations that drive specific forms of cancer. There is already a long list of successes, Demetri said, whether from a drug that targets the HER2 protein in certain types of breast-cancer, or  from the use of Gleevec to target a specific protein in the treatment of chronic myeloid leukemia.
Right now, 23andMe has three studies focused on cancer.

We first applied our unique research platform to study cancer in April 2010 with the launch of our Sarcoma Research Initiative. We are already very close to reaching our goal of enrolling 1,000 people with the disease. Last summer we launched a Myeloproliferative Neoplasms Research Initiative to study this group of very rare blood cancers. More than 650 patients have joined this research project in just 9 months, and we announced our first research finding earlier this year. Finally, we’ve joined forces with Genentech to start a unique online breast cancer study to look at how genes influence a person’s response to treatment for metastatic breast cancer.

In each of these studies we believe we can change how clinical trials and cancer research is done. We want to make it cost less and take less time. We want to leverage the power of the web to bring down some of the barriers to participate and give people access to their genetic data in the process.

23andMe was started on this premise, and our research communities are the embodiment of that goal. Patients from all over the world can contribute directly to research and connect with others who have their disease, all while learning more about themselves.

We are also always looking for other genetic associations with cancer, and currently have two separate Cancer Family History Surveys, one for men and one for women.

We hope that over time this work will lead to important breakthroughs in the fight against cancer. Over the next few weeks we’ll be posting more stories about cancer, the research going on to fight the disease and some of the people at the forefront of that work. Stay tuned.

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May 10 2012

SNPWatch: Do These Genes Make My Brain Look Big?

Published by under SNPWatch

If you have a big head, you may be subjected to a fair bit of teasing, but science may offer you some consolation. For instance, individuals with a smaller intracranial volume (the area within the skull) are at slightly higher risk for late-life dementia. In addition, a smaller hippocampus (a section of the brain involved in learning and memory storage) has been associated with Alzheimer’s disease and mental illnesses such as depression and schizophrenia. Four papers published recently in Nature Genetics address various measures of head size and their possible health implications.

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May 09 2012

What Do You Know About Heritability?

Published by under 23andMe Research

Nature vs. nurture is a question scientists and non-scientists alike have grappled with since the earliest days of human history. One concept we use to describe these two complementary forces is “heritability”, or the proportion of variation in the development of a disease or trait in a population that’s due to genetics.

While this sounds simple, there are some nuances to heritability that often cause it to be misinterpreted. Show us what you know about heritability in this week’s quiz!
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May 08 2012

Gaining Perspective on Metastatic Breast Cancer

A few of us from 23andMe attended the 6th Annual Conference for Women Living with Metastatic Breast Cancer two weekends ago in Philadelphia. This national conference is put on by a patient advocacy organization called Living Beyond Breast Cancer (LBBC) that empowers women affected by breast cancer to live longer, healthier lives.

The conference provided a toolbox of information for women fighting metastatic breast cancer — everything from treatment options to day-to-day coping to facing end-of-life issues. Metastatic breast cancer is a cancer that spreads from the breast to other parts of the body including the bones or liver.

It was an awe-inspiring event and we saw firsthand how brave, informed, and strong the metastatic breast cancer community is.

Continue reading for some conference highlights… Continue Reading »

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May 06 2012

Quiz Answers: Traits Associated With BMI

Published by under 23andMe Research

Last week we quizzed our readers on traits associated with BMI among 23andMe’s customers. Congratulations to Suellen, the winner of the quiz! She got all three answers correct and will receive an Amazon gift card. So what were the correct answers? Read on…

Which physical trait is most associated with BMI? Shoe size.

Shoe size is very strongly correlated with BMI in 23andMe’s database. For each standard deviation increase in shoe size, BMI increases by 1.18 units. Put another way, the BMI of the bottom fifth of the shoe size distribution is 3.21 units lower on average than that of the top fifth. This corresponds to a difference of about 20 lbs in people who are 5’8” tall. Continue Reading »

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