<table style="float: right; text-align: right; width: 315px;">
<tbody>
<tr>
<td><img loading="lazy" decoding="async" class="alignright size-medium wp-image-8845" style="padding-bottom: 15px;" title="PASD-2011" src="https://blog-api.23andme.com/wp-content/uploads/2011/04/PASD-2011-300x39.png" alt="" width="300" height="39" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/PASD-2011-300x39.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/04/PASD-2011.png 407w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
</tr>
<tr>
<td><img loading="lazy" decoding="async" class="alignright size-medium wp-image-8846" title="PUW-2011" src="https://blog-api.23andme.com/wp-content/uploads/2011/04/PUW-2011-300x48.png" alt="" width="300" height="48" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/04/PUW-2011-300x48.png 300w, https://blogcms.23andme.com/wp-content/uploads/2011/04/PUW-2011.png 570w" sizes="auto, (max-width: 300px) 100vw, 300px" /></td>
</tr>
</tbody>
</table>
It’s easy to talk the talk for disease awareness, but now you can walk the walk &#8212; literally!
On April 16th, the Parkinson’s Association of San Diego (PASD) and the Parkinson’s Unity Walk (PUW) will be hosting two different walks on either side of the country. The goals of each walk are the same: to raise awareness and funding for Parkinson’s, a disease that affects approximately one million people in the United States. 23andMe shares similar goals and is proud to be participating in both events to promote our <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson’s research community</a>.
In San Diego, the PASD is holding a 5K “Walk and Fun Run” at Liberty Park in Point Loma. They anticipate 2,000 walkers this year, 500 of which have Parkinson’s disease (PD). This year’s walk will also feature a new program called “Paws for Parkinson’s” to highlight the importance of service dogs in the lives of people with Parkinson’s disease. For more information about this walk, visit the walk website.
Across the country on the East Coast, the Parkinson’s Unity Walk will be held in New York City’s Central Park. This event, now in its 16th year, is coordinated between seven different Parkinson’s organizations. Last year, the Unity Walk drew approximately 10,000 people and raised $1.5 million for PD research! For more information about the Unity Walk, visit their <a href="http://www.unitywalk.org/about.php" target="_blank" rel="noopener noreferrer">website</a>.
23andMe will be hosting booths at both walks to give out bookmarks and other goodies, to discuss our service and research efforts, and to enroll people with PD into our Parkinson’s research community.  23andMe testing kits will be available on-site, but if you’re not quite ready to get or use a kit,  there will also be discount cards you can take home to apply towards a kit online.
Whether you’re already a participant in our Parkinson’s community or not, we’d love to see you at one of the walks! You can tell us your story (we’ll be taking some video and photos), take home some free stuff, learn more about what we do, or just stop by to show your support.
To get a flavor of what these walks and 23andMe’s research efforts are all about, check out <a href="http://www.unitywalk.org/videoplay.php?vidid=2%20Interviews%201.mp4">this video on the Unity Walk website</a> (23andMe featured starting at minute 3:50).
April is Parkinson’s Disease Awareness Month! Learn more about this disease and how you can get involved.

23andMe Blog

23andMe Blog Team

Take a Hike… for Parkinson’s Awareness

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Parkinson&#8217;s disease (PD) is a relatively rare but devastating condition affecting 1-2% of Americans. Although some risk factors are known &#8212; including genetic variants that predispose to the condition &#8212; its exact causes and mechanisms remain a mystery, and development of treatments has been slow.
<h2>Parkinson&#8217;s Research Community</h2>
23andMe chose to focus on <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s disease</a> for our first disease research community and we&#8217;ve made great strides in the two years since it launched. Our Parkinson&#8217;s research initiative was also featured in a Wired article last summer called &#8220;Sergey&#8217;s Search,&#8221; referring to Google co-founder Sergey Brin.
Sergey&#8217;s mother, Genia Brin, suffers from Parkinson&#8217;s disease and learned from 23andMe that she carries two copies of the Parkinson&#8217;s-associated LRRK2 G2019S genetic variant. Sergey carries one copy of the variant. The knowledge has prompted them to take a more active role in research, including a breakthrough study published this month in <a href="http://www.cell.com/cell-stem-cell/abstract/S1934-5909(11)00014-2" target="_blank" rel="noopener noreferrer">Cell: Stem Cell</a> in which Genia Brin played a crucial part.
<h2>Skin Cells</h2>
With skin cells from Brin, scientists led by Renee Reijo Pera at Stanford University and William Langston at the nearby Parkinson&#8217;s Institute were able to generate the first human Parkinson&#8217;s cell line that exhibits features of the disease in the petri dish. They  first turned the skin cells into a type of stem cell (induced pluripotent stem cells, or iPSCs) and then transformed those stem cells into dopaminergic neurons, the same kind of neurons affected in people with PD.
Incredibly, these derived neurons quickly started showing signs indicative of Parkinson&#8217;s in the lab, including the accumulation of certain telltale proteins.  The scientists believe that the stress of being in a petri dish for several months induced the neurons to behave more like neurons exposed to decades of environmental stress. They also observed that the neurons were more susceptible to hydrogen peroxide damage compared to other cell types.
<h2>PD Cell Line</h2>
Their findings represent a major step forward for PD research. The researchers can conduct further experiments on the new PD cell line to see what other factors contribute to PD-like symptoms and whether specific interventions have beneficial effects. Their observation that the PD neurons are especially sensitive to harmful reactive chemicals like hydrogen peroxide is also an important jumping off point for investigating potential treatments.
Genia Brin herself was impressed with what the scientists were able to accomplish with her cells.
&#8220;It is a bad disease and its biological basis is little understood. Research has been pretty slow,&#8221; she said in statements to the <a href="http://www.mercurynews.com/science/ci_17708879?nclick_check=1" target="_blank" rel="noopener noreferrer">San Jose Mercury News</a>. &#8220;I was hoping they would learn something from it, and they did. &#8230; Now they can experiment with [my cells].&#8221;
Read more about the study in the <a href="http://www.mercurynews.com/science/ci_17708879" target="_blank" rel="noopener noreferrer">San Jose Mercury News</a> and <a href="http://www.sciencedaily.com/releases/2011/03/110303132308.htm" target="_blank" rel="noopener noreferrer">ScienceDaily</a>.
Did you know? April is Parkinson&#8217;s Disease Awareness Month. Check the Blog for more articles on Parkinson&#8217;s Disease over the next few weeks, and learn more about how you can get involved!

Breakthrough with Parkinson’s in a Petri Dish

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8691" style="padding-right: 15px;" title="lady_at_computer" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/lady_at_computer.png" alt="" width="130" height="165" /><img loading="lazy" decoding="async" class="alignright size-full wp-image-8692" style="margin-bottom: 35px;" title="lightbulb" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/lightbulb.png" alt="" width="150" height="124" />
At 23andMe, we are committed to advancing understanding of human health and disease, and to giving everyone an opportunity to participate in scientific research that is meaningful for them. We launched our first research community focused on Parkinson&#8217;s disease in 2009 with those goals in mind. Less than two years later, we&#8217;ve already made amazing progress, having enrolled nearly 5,000 people with Parkinson&#8217;s (including one of the world&#8217;s largest databases of rare LRRK2 carriers) and gathered 40,000 data points about their experiences with the disease. With this initial data set, we&#8217;ve not only replicated existing genetic associations with Parkinson&#8217;s, but have also discovered two novel genetic markers associated with the condition which may further our understanding of the causes and point to potential avenues for treatment.
One of the most encouraging aspects of this community-based effort is the speed with which we&#8217;ve been able to grow the community and make these discoveries. Traditional disease cohort recruitment and data collection is time-consuming, and sometimes decades can pass after the first study participant is enrolled until findings are published. Our unique web-based research platform significantly accelerates this timeline, and we have already submitted a manuscript for peer review describing our first findings.
To learn more about 23andMe&#8217;s research efforts, visit our <a href="https://www.23andme.com/pd" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s</a>, <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener noreferrer">Sarcoma</a>, and <a href="https://www.23andme.com/research" target="_blank" rel="noopener noreferrer">23andWe</a> research pages.

An Update On Our Parkinson’s Research Community

<img loading="lazy" decoding="async" class="alignright size-full wp-image-16564" title="23andWe-ppl" src="https://blog-api.23andme.com/wp-content/uploads/2010/12/23andWe-ppl.png" alt="" width="285" height="138">
One of 23andMe’s core missions is to accelerate the pace of scientific research and contribute to our understanding of the genetic basis of human health and traits. Central to this mission is our growing database of genotyped customers who have consented to allow us to incorporate their genetic data and responses to online questionnaires into research on all sorts of conditions, from Parkinson’s disease (PD) to the tendency to sneeze in bright sunlight (the “<a href="http://www.23andme.com/topics/traits/photic-sneeze-reflex/">photic sneeze reflex</a>”). We call this collective research effort <a href="https://www.23andme.com/research/">23andWe</a>.
Last June, 23andMe published <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000993">its first peer-reviewed scientific paper</a> in PLoS Genetics, presenting the results of analyses for 22 common traits in individuals of European ancestry. Nearly 10,000 participants in our database answered one or more surveys about skin pigmentation, hair characteristics, photic sneeze, asparagus anosmia (the ability to smell asparagus metabolites in your urine), motion-sickness, and handedness, among other traits. The results yielded discoveries of new genetic links to four traits, including the first-ever genetic associations reported for asparagus anosmia and the photic sneeze reflex. In addition, we confirmed many associations identified previously by other researchers.
Since then, the engine behind 23andWe has been steadily churning. More and more customers have been signing up and contributing to genetic research. At a recent scientific conference, 23andMe researchers presented <a href="https://blog.23andme.com/2010/11/04/23andme-research-team-presents-findings-at-international-human-genetics-meeting/">preliminary findings</a> from studies uncovering novel genetic links to childhood and adult infections, Parkinson’s disease, and hair traits, as well as studies that replicated more than 100 previously-identified genetic associations for dozens of common diseases and medical conditions. &nbsp;Although the results still need to be reviewed for publication in the scientific literature, this latest batch of studies &#8212; performed in a fraction of the time normally needed for studies of this type &#8212; is a testament to the power of the 23andWe research model.
So what are we working on now?
<ul>
<li>As part of our Parkinson&#8217;s Disease initiative, we are following up on several SNP associations we&#8217;ve identified, and are working on improved methods for risk prediction that combine information across many SNPs. We are also conducting a study to develop and validate a new series of surveys for potential PD risk factors.</li>
<li>We are participating in an international &#8220;meta-analysis&#8221; of male pattern baldness. Results from our own analysis of baldness in 23andMe customers will be combined with results from five other studies, which is a more powerful approach than just evaluating each study separately. We have some very interesting preliminary findings and we expect that this study will lead to a scientific publication in early 2011.</li>
<li>We have a collaboration with the <a href="http://www.bristol.ac.uk/alspac/">ALSPAC project</a> (Avon Longitudinal Study of Parents and Children), which is an ongoing study of more than 10,000 mothers and their children, recruited in the Avon area of England from1991-1992. 23andMe has genotyped the children (now young adults!) using the same custom SNP arrays we use for our Personal Genome Serviceâ„¢. We hope to use data collected for this cohort to validate a wide range of findings that we&#8217;ve made using 23andMe customer data. Some of the phenotypes we expect to look at soon include nearsightedness, allergies, handedness, and infectious disease susceptibility.</li>
<li>We’ve launched a new <a href="https://www.23andme.com/sarcoma/">Sarcoma community</a> that is currently enrolling members. We plan to combine survey information regarding their experiences, environments and responses to different therapies with genetic data to find patterns that will help us better understand the biology of sarcoma.</li>
<li>We&#8217;ve been working on methods to assess the accuracy of our risk prediction models using survey responses from 23andMe customers. We&#8217;ll be using these results to refine our existing models and to develop new ones, with the goal of continually improving our understanding of genetics and environmental interactions and how this data is presented to our customers.</li>
</ul>
All of this was and continues to be made possible through the generous contributions of thousands of individuals &#8212; of their genetic data and their answers to surveys about themselves and their experiences. We will strive to keep you updated as our research progresses!
 Click <a href="https://www.23andme.com/research/">here</a> if you’d like to learn more about 23andWe research initiatives or <a href="https://www.23andme.com/about/consent/">what it means to participate</a>. 23andMe customers can visit their account for more detailed information about 23andWe &nbsp;Research Initiatives and our pioneering &nbsp;Research Discoveries.

23andWe Research Update: Something Old and Something New

As highlighted in Thomas Goetz&#8217;s new Wired article &#8220;Sergey&#8217;s Search,&#8221; 23andMe&#8217;s innovative web-based research platform is pushing <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s disease research</a> ahead at an unprecedented pace.   With our database clocking in at 50,000 genotyped customers–a number that grows daily–we&#8217;re poised to make exciting discoveries in many other areas.
As long as we are tooting our own horn, here are some other numbers we&#8217;d like to shout from the rooftops:
<ul>
<li>40 research surveys in progress</li>
</ul>
<ul>
<li>29,000 customers participating in research…so far</li>
</ul>
<ul>
<li>9 MILLION research questions answered</li>
</ul>
<ul>
<li>650+ genome-wide association studies being run in parallel</li>
</ul>
<ul>
<li>100s of genetic associations found — both replications and novel discoveries</li>
</ul>

23andMe and a New Paradigm for Research

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3091" title="pd" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/pd.png" alt="" width="315" height="256" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/pd.png 315w, https://blogcms.23andme.com/wp-content/uploads/2009/03/pd-300x244.png 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
By Nick Eriksson, 23andMe Principal Scientist, and Lizzie Dorfman, Parkinson&#8217;s Research Project Manager
Less than a year ago we announced the <a href="https://www.23andme.com/about/press/20090312/" target="_blank" rel="noopener noreferrer">launch of the 23andMe Parkinson’s Research Initiative</a>. Since then, we have built one of the world&#8217;s most useful resources for studying the <a href="https://blog.23andme.com/2009/03/19/understanding-the-genetics-of-parkinsons-disease-a-work-in-progress/" target="_blank" rel="noopener noreferrer">genetics of Parkinson&#8217;s disease</a>.
This past December we had meetings with the <a href="http://www.nih.gov/" target="_blank" rel="noopener noreferrer">National Institutes of Health</a>, <a href="http://www.fastercures.org/" target="_blank" rel="noopener noreferrer">FasterCures</a>, pharmaceutical companies and several key Parkinson’s geneticists to discuss our research. The feedback was unequivocally positive. We are thrilled by the progress we’ve made and wanted to make sure to publicly share some of our most significant accomplishments to date, as well as a preview of what is to come.
<h6>Progress on Recruitment</h6>
So far, more than 3,500 people with Parkinson&#8217;s disease from 49 U.S. states and 17 countries have submitted saliva samples for genetic analysis and carefully answered more than 30,000 online surveys to help with our research. Our genetic database now includes many important subgroups of Parkinson&#8217;s patients, each presenting a tremendous opportunity for current and future research.
These include a large group of people with early-onset Parkinson’s (â‰¤50 years old at diagnosis), carriers of extremely rare mutations that are known to strongly predispose a person for the disease, and people with a family history of Parkinson&#8217;s with no known cause. We&#8217;ve also had an incredible response from our other communities: more than 8,000 people without Parkinson&#8217;s have taken our Parkinson’s surveys so that they can be included in our studies as crucial control subjects.
<h6>Unique Research Model</h6>
An important aspect of research at 23andMe, one that distinguishes us from many other research programs, is the way we collect information about the health, activities and environment of our participants.   Traditional methods of data collection &#8212; for example, using an existing medical record or a meeting between a researcher and each participant &#8212; can be costly, time-consuming and limit the number of people willing and able to participate.
In contrast, 23andMe utilizes simple online surveys that can be completed anywhere at anytime.   This allows people from all over the world to easily participate in our research on an on-going basis. Because this is a new way of collecting data, we&#8217;ve taken special care to make sure that the information we collect is accurate.   Careful analysis has indicated that the survey answers our participants have been providing are of very high quality.
<h6>How can we tell?</h6>
Well, one example is that we&#8217;ve independently identified many of the same genetic markers previously found by other Parkinson&#8217;s researchers.   Even the magnitude of the effects we&#8217;ve found are similar to what other research groups have seen.
For example, the <a href="https://blog.23andme.com/2009/11/17/snpwatch-common-genetic-variants-associated-with-risk-for-parkinsons-disease-identified-in-asian-and-european-populations/" target="_blank" rel="noopener noreferrer">published literature</a> has shown that each copy of a G at SNP rs393152 near the MAPT gene reduces the odds of Parkinson&#8217;s by 0.23 times. This is very similar to what we&#8217;ve seen in our data: we found that each G reduced the odds of Parkinson&#8217;s by 0.21 times. Each G at rs2736990 near the SNCA gene has been shown to increase the odds of Parkinson&#8217;s by 1.23 times. We found an increase of 1.28 times for each G .
In addition, we&#8217;ve also replicated the known associations between the LRRK2 and <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Search&amp;db=pubmed&amp;term=19846850" target="_blank" rel="noopener noreferrer">GBA</a> genes and Parkinson&#8217;s. All of these results are important and exciting evidence that our revolutionary new way of conducting research is a viable alternative to traditional methods.
<h6>Verifying Other Findings</h6>
Thanks to the detailed information that has been contributed by everyone participating in the 23andMe Parkinson&#8217;s community, we&#8217;ve also been able to verify some things about Parkinson&#8217;s that aren&#8217;t genetic. For example, we see that <a href="https://www.23andme.com/health/Parkinsons-Disease/" target="_blank" rel="noopener noreferrer">LRRK2 G2019S</a> carriers who have Parkinson&#8217;s disease show fewer symptoms than other patients when adjusted for duration of the disease, age of onset, and sex.
This is similar to the result in a paper published by other researchers in the journal <a href="https://www.ncbi.nlm.nih.gov/pubmed/18539534" target="_blank" rel="noopener noreferrer">Lancet Neurology</a> in 2008. The survey answers we&#8217;ve collected are also able to divide our participants into the classically observed   tremor dominant and postural instability gait difficulty (PIGD) subtypes of Parkinson&#8217;s. These and other similar results provide further support for our web-based paradigm for conducting clinical research.
<h6>Collaborators</h6>
We are currently working with the <a href="http://www.thepi.org/" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s Institute</a>, with funding from the <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Michael J. Fox Foundation</a>, on a <a href="https://www.23andme.com/about/press/20080514/" target="_blank" rel="noopener noreferrer">long term project</a> to formally show that Parkinson&#8217;s disease data collected online is as good as data collected in a clinical setting.
We&#8217;re very excited about the possibilities of the data we&#8217;ve collected from the Parkinson&#8217;s Disease Research Initiative. We&#8217;re in the process of writing up some of the results we&#8217;ve shared here, along with some others, and will soon submit papers on Parkinson&#8217;s Disease genetics to peer-reviewed scientific journals.
Also in store for the year ahead: continued recruitment, new research surveys, cutting-edge and exploratory data analysis techniques and new research collaborations. We&#8217;ll be sure to keep sharing our progress.
We would also like to express our thanks for the support and outreach efforts of several organizations. Since our launch we&#8217;ve been honored to work with the Michael J. Fox Foundation and The Parkinson&#8217;s Institute and Clinical Center. Over the last year we have been thrilled to add the support of <a href="http://www.parkinson.org" target="_blank" rel="noopener noreferrer">The National Parkinson Foundation</a>, <a href="http://www.patientslikeme.com/" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a>, <a href="http://www.nwpf.org/" target="_blank" rel="noopener noreferrer">The Northwest Parkinson&#8217;s Foundation</a> and <a href="http://www.cureparkinsons.org.uk/" target="_blank" rel="noopener noreferrer">The Cure Parkinson&#8217;s Trust</a>, among others.
Speaking of outreach, it&#8217;s not too late to join in our efforts and help us make even more discoveries.   If you have been diagnosed with Parkinson&#8217;s disease, all it takes to join our research initiative is $25, a small saliva sample and the ability to answer online surveys. Learn more and request a discount code here: <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">https://www.23andme.com/pd/</a>.

Nick Eriksson

23andMe Parkinson’s Research Initiative Progress Update

<img decoding="async" class="alignright size-full wp-image-5641" title="Mycobacterium_leprae" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/Mycobacterium_leprae.jpg" alt="Mycobacterium_leprae" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/Mycobacterium_leprae.jpg 489w, https://blogcms.23andme.com/wp-content/uploads/2009/12/Mycobacterium_leprae-293x300.jpg 293w" sizes="(max-width: 489px) 100vw, 489px" />
Leprosy is a chronic, disabling disease caused by a bacterium (Mycobacterium leprae) that infects only humans and armadillos.
The disease affects the skin and peripheral nerves, leading to sores, numbness in the limbs, muscle weakness, and, in severe cases, disfiguring nodules on the skin. Known since biblical times, leprosy was highly stigmatized until the latter part of the 19th century when Norwegian doctor Gerhard Hansen discovered that it was caused by a microorganism.
<h2>Treatment and Prevention</h2>
Although multi-drug therapy has cured millions of people of leprosy in recent decades, hundreds of thousands of new cases still occur per year, mostly in developing countries. Finding a way to eradicate the disease is therefore considered essential for reducing the number of preventable disabilities worldwide.
Because Mycobacterium leprae is specific to humans and cannot be grown in lab dishes, research into factors influencing disease susceptibility and clinical outcomes has been limited. But the host environment, as well as the bacterium itself, can affect the course of the disease; in other words, human genetic factors may play an essential role in determining who is more susceptible to infection.
Since leprosy has been shown to cluster in families, scientists suspect that much of the variability in disease susceptibility and symptoms stems from diversity in individual human immune systems rather than differences between and within strains of the bacteria.
<h2>New Research</h2>
In a new study published today in <a href="http://content.nejm.org/cgi/content/full/NEJMoa0903753">New England Journal of Medicine</a>, researchers report new human genetic factors associated with susceptibility to leprosy in Asians. Led by Fu-Ren Zhang of the Shangdong Academy of Medical Sciences in China and Jian-Jun Liu of the Genome Institute of Singapore, the scientists tested 93 variants across an estimated 50 genes in 3254 Chinese individuals with leprosy and 5955 Chinese individuals without the condition. Their analysis identified seven gene variants to be significantly associated with leprosy.
&#8220;The discovery of these genes is a major breakthrough for research in leprosy and infectious diseases in general and will be significant in the early diagnosis and development of new treatments,&#8221; said Dr. Liu in a <a href="http://www.eurekalert.org/pub_releases/2009-12/afst-lsg121409.php">press release</a>.
The strongest associations were in HLA-DR-DQ, C13orf31, and NOD2. In addition, some of the genetic variants were more strongly associated with a form of leprosy that results in more severe symptoms, known as the multibacillary form. These included NOD2 and the variant in LRRK2.
<h2>Association with Crohn&#8217;s</h2>
Altogether, five of the seven genes identified in the study could be shown to interact biologically in the context of immune response to infection. Two of these five genes, NOD2 and TNFSF15, harbor genetic variants associated with Crohn’s disease. Crohn’s manifests some common features with leprosy at the cellular level, and other researchers have suggested that mycobacterial infection may be a risk factor for Crohn’s. The findings reported by Zhang and Liu and their colleagues provide additional evidence for shared disease mechanisms between Crohn’s disease and leprosy. They may increase the range of treatment options for both conditions.
** This effect is only applicable to the multibacillary form of leprosy. LRRK2 is better known as a susceptibility gene for Parkinson&#8217;s disease (see 23andMe&#8217;s <a href="https://www.23andme.com/health/Parkinsons-Disease/">report</a> on this condition). Interestingly, PARK2, another gene linked to Parkinson&#8217;s, was associated with leprosy in earlier studies. The reason for the connection between Parkinson&#8217;s and leprosy is unclear, though researchers have speculated that some of the same treatments may be effective for both conditions.

Genetic Association Study of Leprosy Yields New Insights into an Ancient Disease

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3133" title="parkinsonsdisease" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/parkinsonsdisease.jpg" alt="parkinsonsdisease" width="260" height="236" />PET scans showing dopamine activity in a normal brain and a Parkinson’s patient’s before and after treatment with a therapeutic implant. 
More than a million Americans have Parkinson’s disease, and another 50,000 are diagnosed each year.
Scientists know that many of Parkinson’s’s characteristic symptoms—tremors, rigid muscles, and movement problems—can be traced back to the loss of dopamine-producing brain cells. But what researchers don’t fully understand is why these cells are damaged in the first place.
<h2>Genetics and Other Factors</h2>
For most cases of Parkinson&#8217;s, the brain cell damage is probably the result of complex interactions between<a href="https://blog.23andme.com/2009/03/19/understanding-the-genetics-of-parkinsons-disease-a-work-in-progress/" target="_blank" rel="noopener noreferrer"> multiple genetic and environmental factors</a>.   Despite years of work, however, hardly any of these factors are known.   But now two research groups have identified several genetic variants associated with the risk of Parkinson&#8217;s in Asian and Caucasian populations.   Their results were published online this week in the journal Nature Genetics.
One group, led by <a href="https://dx.doi.org/10.1038/ng.485" target="_blank" rel="noopener noreferrer">Wataru Satake</a>, analyzed the DNA of 2,011 Japanese people with Parkinson&#8217;s disease and 18,381 controls.   The other group, composed of U.S. and German researchers (<a href="https://dx.doi.org/10.1038/ng.487" target="_blank" rel="noopener noreferrer">SimÃ³n-SÃ¡nchez et al.</a>), looked at the genetics of 5,074 Caucasians with Parkinson&#8217;s and 8,551 without the disease.
<h2>Common Genetic Variants</h2>
Common variations in and around two genes previously associated with rare familial forms of Parkinson&#8217;s disease, SNCA, and LRRK2, were associated with the risk for Parkinson&#8217;s in the Japanese study.   In the Caucasian study, the association with SNCA was strong, but the evidence for an association between Parkinson&#8217;s and common variation near LRRK2 was only suggestive.   Given that the association of mutations in this gene with familial forms of Parkinson&#8217;s is so strong, SimÃ³n-SÃ¡nchez et al. nevertheless think there truly is a role for SNPs near this gene in non-familial forms of the disease.
Satake et al. also found that variations in a region of the genome not previously linked to Parkinson&#8217;s disease could affect the risk for the disease.   This region of chromosome 1 contains several genes, and it is unclear which one might be involved in Parkinson&#8217;s.   Satake et al. named the region PARK16.   After comparing their data, the U.S./German group also found a link between Parkinson&#8217;s disease and the PARK16 region.
A SNP in the BST1 gene was associated with increased risk for Parkinson&#8217;s in the Japanese sample, but did not show any link to the disease in the Caucasian sample.   The risk version of this SNP, however, is found at very low levels in Caucasians.   This may have been why SimÃ³n-SÃ¡nchez et al. were unable to pick it up in their analysis.
<h2>The MAPT Gene</h2>
Finally, a SNP in the MAPT gene, which has also been associated with familial forms of Parkinson&#8217;s, was associated with disease risk in the Caucasian sample but not in the Japanese.
Work to find common genetic variations affecting the risk for Parkinson&#8217;s will no doubt continue as researchers try to identify all of the puzzle pieces relevant to this devastating disease and how they fit together.
&#8220;A further increase in the number and size of cohorts for [genomewide association studies] in [Parkinson&#8217;s disease] will likely reveal additional common genetic risk loci, and these, in turn, will improve understanding and, ultimately, treatment of this devastating disorder,&#8221; concludes SimÃ³n-SÃ¡nchez et al.
Although variations in some of the same genes were found in both the Caucasian and Japanese samples, the same SNPs often do not apply to the different populations. People looking up their own data should use the SNPs listed for the ethnicity they identify most closely with.
*Risk version is more standard version of SNP. 
**Results did not meet strict cut offs for statistical significance, but researchers suggest the associations are nonetheless real.

Genetic Variants Associated With Risk for Parkinson’s Disease

&#8220;But we always go there!&#8221;
And so begins another Friday night. When it comes to choosing where to go to dinner, my husband likes to stick with the tried and true. I like trying out new places.
A new study suggests that the roots of this conflict could spring partly from our genes. It suggests that a DNA variation affecting the neurotransmitter dopamine influence a person&#8217;s willingness to explore new options instead of sticking with the status quo.
<h6>Trying Something New</h6>
The finding comes from a study by Michael Frank and colleagues from Brown University and the University of Arizona. The researchers focused on how people learn from positive and negative feedback. Subjects were confronted with a clock face that counted down five seconds.   Before time was up they had to push a button to receive points.   In some trials, the experiment was set up so that the faster they pushed the button, the more points they got. In other trials, waiting longer got more points.
To the researchers&#8217; surprise, people showed wide swings in response speed within each type of trial as they adjusted their timing in an attempt to maximize their scores. Computer models showed that a likely reason for these swings is that people change their strategy (pressing the button faster or slower) in proportion to how uncertain they are that a new strategy (speeding up or slowing down from what they&#8217;ve been doing) will yield better results.
It makes sense: If you think a new restaurant might be only marginally better than the one you usually go to (and could be worse), you&#8217;re probably not that likely to vary from the usual routine. Why risk it?
But if you really have no idea how good a place might be — who knows, it could blow your mind – you&#8217;d probably be more inclined to give it a whirl.
<h6>Adventurousness</h6>
Further analysis of the data, which will appear in the August issue of <a href="https://dx.doi.org/10.1038/nn.2342" target="_blank" rel="noopener noreferrer">Nature Neuroscience</a>, showed that the extent to which a person tried out new strategies correlated with variations in the COMT gene. People who carried the &#8220;Met&#8221; version of the gene were more exploratory in the face of uncertainty about what strategy to try next than people with two copies of the &#8220;Val&#8221; version (&#8220;Met&#8221; and &#8220;Val&#8221; refer to particular amino acids encoded by different versions of the gene).
People with two copies of the Met version were the most adventurous, but even those with only one copy were statistically different in their exploration of new strategies from the people with two copies of the Val version.
The protein encoded by the COMT gene is involved in dopamine signaling in the prefrontal cortex, an area of the brain involved in planning and decision-making.   The Met version of the gene leads to increased dopamine activity in this region and has been linked to more efficient information processing.
So does this explain my date-night drama?   Well, there&#8217;s undoubtedly more to it than genes alone, but I do have one copy of the more exploratory Met version of the COMT gene.   And my husband?   Two copies of the stuck-in-a-rut Val version.
<h6>Dopamine and Learning</h6>
In a region of the brain called the basal ganglia, dopamine helps us internalize positive and negative feedback in order to develop those &#8220;gut&#8221; feelings of what strategy will work and what won&#8217;t.
The effects of dopamine in the basal ganglia have been shown in experiments that use drugs to raise or lower levels of the neurotransmitter in the brain.   Higher dopamine levels help people learn to repeat rewarding behaviors, while lower dopamine leads to better learning from bad experiences.   In a game where &#8220;A&#8221; usually yields more points than &#8220;B,&#8221; people with boosted dopamine levels learn to choose A.   People with decreased dopamine levels learn to avoid B.
In non-medicated test subjects, genetic variations that influence dopamine signaling in the basal ganglia also impact so-called &#8220;Go&#8221; (choose A) and &#8220;NoGo&#8221; learning (avoid B). People with two copies of the A version of a variant in the DARPP-32 gene, which increases dopamine signaling, tend to be better at Go learning than their G-version-carrying friends.   
The clock-and-button experiments Frank et al. conducted further tested the association of these two variants with Go and NoGo learning.   Trials that rewarded faster responses measured Go learning.   Trials that rewarded holding off on the action of button pushing measured NoGo learning. 
<h6>Parkinson&#8217;s Disease Connection</h6>
Understanding the role of dopamine in learning from experience may have important implications for treating people with Parkinson&#8217;s disease, which is characterized by a loss of dopamine producing neurons in the brain.   Studies have shown that people with Parkinson&#8217;s have trouble with Go learning.   It&#8217;s thought that the lack of dopamine in their brains prevents the dopamine spikes needed to learn from positive feedback.
This fits with evidence that drugs that increase dopamine help people with Parkinson&#8217;s improve their performance on tasks that require Go learning.   But there is a downside:   because they flood the brain with dopamine, the normal dips in signaling that are needed to learn from negative feedback are blocked by these drugs.   This might explain why some people with Parkinson&#8217;s disease who take dopamine-increasing medications develop gambling problems — they&#8217;re overly attuned to winning, but incapable of learning from their losses.

Parkinson's Disease — Page 9