3 posts from August, 2009

New Parkinson’s Genetics Engine to Enhance Research Through Shared Data

Posted August 20th, 2009 by

Though documented as long ago as the early 1800s, medical breakthroughs in Parkinson’s disease research have been slow in coming.  That’s why PatientsLikeMe continues to get involved in the research process.  With our new genetics engine for Parkinson’s disease, patients now have a way to share information about their genetics and find others with the same genetics as them.  As part of our commitment to supporting genetics discovery, PatientsLikeMe recently partnered with 23andMe, aiding them in their research effort to get 10,000 Parkinson’s patients for a groundbreaking research study.

parkinson's geneticsMost of the time, people don’t know what causes their Parkinson’s disease.  It could be due to genetic factors we haven’t identified yet, environmental exposures, or maybe even something else completely.  However, there are some known genetic causes of Parkinson’s disease. Sometimes different genetic mutations have different disease characteristics, so there’s some benefit to knowing what mutation you may have.  For example, different genetic mutations can result in an earlier or later onset for Parkinson’s disease, some have a milder or more severe disease course, and others have a higher or lower chance of dementia.  Knowing your genetic status could help you plan ahead, especially if you have a strong family history of the disease.

The 23andMe kit tests for one genetic mutation that can cause Parkinson’s disease – LRRK2 G2019S.  The chances of having this mutation vary with your ethnicity, and not everyone with the mutation will get Parkinson’s disease. However, some studies claim that LRRK2 G2019S is responsible for about 5-6% of all familial cases of Parkinson’s Disease and 1% of sporadic (randomly occurring) cases of Parkinson’s disease.

We are working to include as much meaningful genetics information in the PatientsLikeMe Parkinson’s community so that you can make the best decisions collaboratively. For those PatiensLikeMe Parkinson’s community members taking advantage of the 23andMe offer, we encourage you to upload your genetic information on your PatientsLikeMe profile so we can continue to expand our understanding of genetics and Parkinson’s in the context of individual patients.  If you go to your 23andMe account and find that you have the LRRK2 G2019S mutation, you can add it to your PatientsLikeMe diagnosis history.  Once you have entered your genetics to your profile, you will be “findable” by other “patients like you” with the same genetics. The PatientsLikeMe research team is excited about learning more about Parkinson’s with your help. Sharing information will help us all learn as much as we can about the disease.

PatientsLikeMe member cbrownstein


MS Patients Stepping into the Real-World

Posted August 13th, 2009 by

With 13,000+ members, the Multiple Sclerosis (MS) community is currently the largest community at PatientsLikeMe. Many of our members are just as active online as they are off. There are a countless number of ways for people to get involved in supporting research for the disease, and many patients choose to participate in the thousands of walks and runs that take place year round. At PatientsLikeMe, our members have a voice in research by sharing data about their condition.  However, we also support patients’ decision to take their involvement offline.

Earlier this year, PatientsLikeMe introduced a program to support and sponsor Walk/Run teams. We are encouraged by the success this initiative has already seen since its inception. To date, hundreds of people across all our communities have participated in teams sponsored by PatientsLikeMe, with many of those teams from our MS community.

Want to see some of our patients in action? Head on over to the PatientsLikeMe YouTube page at www.youtube.com/PatientsLikeMeMS and check out some of your fellow patients on the move.  All the pictures from the video and more are also in our Facebook photo album, so check them out (and while you’re there don’t forget to friend us either!) Thanks to all who participated in the program and gave us the material for this first video. Keep on walkin’ everyone!

(Special props to our summer intern, Shane, for editing the video and producing the music for it!)


Charting the course of PLS and PMA

Posted August 11th, 2009 by

Primary Lateral Sclerosis (PLS) and Progressive Muscular Atrophy (PMA) are two rare variants of the disease ALS. Normally, ALS affects the upper motor neurons in the brain and spinal cord, as well as the lower motor neurons that send signals from the spinal cord directly to muscles. PLS and PMA are different because PLS only affects the upper motor neurons, and PMA only affects the lower motor neurons. It’s an important distinction for patients to be told about because the prognosis is less severe in these conditions.  On average, survival in ALS is typically reported to be 2-5 years, whereas for patients with PMA it’s more like 5-10 years and for PLS it’s even longer (often several decades).

ALS itself is a rare condition, affecting some 30,000 people in the United States at any one time.  PLS and PMA each represent approximately 5% of the overall ALS community, so there’s approximately 1,500 patients with each condition in the U.S at any given time.  In April 2008, PatientsLikeMe added the ability for members of our ALS community to change their diagnosis to these rare conditions.  To date, we now have 182 patients with PLS and 270 with PMA. This is truly exciting because even the largest studies in the literature have only examined 40 or so PLS patients and a similar number of PMA patients. One of our most useful features on our site for people with ALS is the percentile curves, which we display as a backdrop on their profiles to put each individual’s rate of progression into context. However, as you can see in the figure below, when you compare the progression curves of ALS patients on our site with those of a typical PLS patient, the PLS patient progression deviates significantly from the ALS curves.

pls-patient-on-als-curves_ls2

With so many PLS and PMA patients sharing such valuable information about their disease on PatientsLikeMe, we had enough information to generate a new set of percentile curves for each of those communities.  To do this, we used self-report ALSFRS-R (ALS functional rating score – revised) data from 104 PLS patients and 59 PMA patients that met our criteria for data quality. We have good data for the first 4-5 years of disease after onset, and after that point we rely on linear extrapolation to make the plots.  Here we see the value of openness in action.  When you see the potential value in contributing your data, it drives a virtuous cycle: the more data you enter, the more value you get, so you enter more data!

pma_profile1

As any of our patients in these communities will tell you, being diagnosed with a rare disease can be a frustrating experience. Aside from dealing with the condition itself, there’s the lack of public awareness, a lack of research investigating your condition, and a sense that you are being “lumped in” with a similar disease because your community doesn’t have the critical mass to merit its own attention.  These new percentile curves for PLS and PMA patients demonstrate the value and power of openness.  By sharing their health data in an open fashion, patients are providing new insights that are changing how we think and act when it comes to these very rare conditions.

Note:  A potential limitation of these curves is that they represent the outcomes for patients that are members of PatientsLikeMe and may not be generalizable to the entire population; we are working hard to better understand and correct for the biases in our population and data. As the size and longevity of each community increases, we will be in a better position to address these issues.

PatientsLikeMe member pwicks PatientsLikeMe member tvaughn