19 posts in the category “Genetics”

A Brief History of AKU, the First Genetic Disease Discovered

Posted January 17th, 2013 by

Last week, we announced that we are creating the first open, global registry for alkaptonuria (AKU), in collaboration with the AKU Society.  You may not have heard of this extremely rare disease – which causes a severe, early-onset form of osteoarthritis – but it plays an important role in the history of genetic diseases.  In fact, AKU, which is estimated to affect 1 in 250,000 to 500,000 people, was the very first genetic disease identified in the scientific record.  Strangely, though, the scientific community failed to recognize this landmark discovery until much later.

The chemical structure of homogentistic acid (HGA), the substance that accumulates in the bodies of AKU patients at more than 2,000 times the normal rate due to a genetic mutation. Image courtesy of AKU Society.

In 1902, Sir Archibald Garrod, a British physician interested in childhood diseases, published a paper describing the hereditary nature of AKU in The Lancet.  After observing the frequent occurrence of AKU in siblings, Garrod came to believe that the condition was congenital and possibly hereditary.  Using chemical studies, he set out to disprove the existing theory that AKU was infectious – and succeeded. By 1908-1909, he’d expanded his radical notion of lifelong hereditary disease to other rare disorders: albinism, cystinuria and pentosuria.   In lectures and publications at the time, he became the first person to describe a human condition that followed Mendelian inheritance patterns, the first to propose the concept of recessive inheritance, and the first to mention the importance of consanguinity, or the genetic similarity of blood relatives who marry and reproduce.

As a result of these significant discoveries, Garrod (who passed away in 1936) is now considered the first human geneticist, as well as the father of “inborn errors of metabolism,” an expression he coined. Yet Garrod’s pioneering work was not appreciated during his lifetime.   Part of this may be due to the fact that the term “genetics” itself – as well as the principles behind it – had not yet been formulated when he was alive.  He was far ahead of his time.  According to a 2008 article published in the Journal of Inherited Metabolic Disorders, Garrod “can rightly be deemed one of the most profound intellectuals of the 20th century, whose bequests to science and medicine continue to increase in value.”

Despite over 100 years of study since Garrod’s 1902 publication, there is still no cure for AKU.  Through our new registry – which will bring together AKU patients from around the world, patients who may have never met another AKU patient like themselves – we hope to help both patients and researchers answer fundamental questions and accelerate research focused on this often painfully debilitating disease.   What we will discover, together?  Stay tuned.


Dronamraju K. Profiles in Genetics:  Archibald E. Garrod. Am J Hum Genet. 51:216-219, 1992.

Rosenberg LE.  Legacies of Garrod’s brilliance.  One hundred years—and counting. J Inherit Metab Dis. 2008 Oct; 31(5):574-9.


Recognizing the Rare Disease Community’s Champions of Hope

Posted October 9th, 2012 by

PatientsLikeMe Is Proud to Be Partnered with the Global Genes / RARE Disease Project

Did you know that 1 in 10 people worldwide have rare and genetic conditions?

PatientsLikeMe was a proud sponsor of the 1st Annual Tribute to Champions of Hope, organized by our partner the Global Genes / RARE Project. Held on September 27th in Newport Beach, CA, the gala recognized outstanding individuals who are working to affect change in the rare and genetic disease community.  All proceeds from the event – which attracted celebrities, medical researchers, pharmaceutical executives and even Olympic champions – go to benefit programs for patients and advocates.

PatientsLikeMe

In attendance from PatientsLikeMe were Ben Heywood, Arianne Graham and Deborah Volpe, who got to hear inspirational stories of the work these champions of hope are doing.  Highlights included the Biotechnology Award given to Charles Dunlop of Ambry Genetics and the Mauli Ola Foundation, which organizes therapeutic surf experiences for kids with cystic fibrosis, and a preview of the documentary Here. Us. Now., which chronicles a family with twin daughters diagnosed with Niemann-Pick Type C, a rare, incurable and fatal genetic disease.  Lifetime Achievement Award recipient Henri Termeer, the former President and CEO of Genyzme, aptly summed up all those who received awards as “people that have a sense that if they focus, they can make a difference.”  (Click here to read about all eight Champion of Hope honorees.)

Even the Dessert Made You Think About Your DNA and the Impact of Genetics at the 1st Annual Tribute to Champions of Hope Gala

After uplifting musical performances and talks by celebrity presenters Jason George (“Grey’s Anatomy”) and Nestor Serrano (Act of Valor), the night ended with a heart-stopping, impromptu rendition of “Somewhere Over the Rainbow” performed by several rising singer-songwriters, including Chris Mann and Katrina Parker from the “The Voice,”  Elliott Yamin from the fifth season of “American Idol” and Gracie Van Brunt, a young girl battling a rare genetic disease called Shwachman-Diamond Syndrome who performed her own original song earlier in the evening.

Chris Mann, Gracie Van Brunt, Katrina Parker and Elliot Yamin (Left to Right) Performing at the Tribute to Champions of Hope

The gala was followed the next day by the 2012 Patient Advocacy Summit, a forum where patient advocates could discuss issues that directly affect them, from resources to policy. PatientsLikeMe Co-Founder and President Ben Heywood was featured on the Innovative Technologies and Platforms panel, sharing the stage with Dr. David Eckstein of the NIH’s National Center for Advancing Translational Sciences. Discussing the topic of “Accessing the Science,” they each gave an overview of how patient registries and clinical trials are promoting change and advancing medical research.

As a prime example, PatientsLikeMe joined forces with the Global Genes / RARE Project last year to create the RARE Open Registry Project, a resource for patients and families fighting rare and genetic diseases.  What makes it different from other registries is every time you enter data into the system, you receive information back showing how your data compares to others fighting similar diseases or taking similar therapies.  If your family is impacted by a rare or genetic disease, we invite you to join the registry today


Bringing PatientsLikeMe into the Doctor’s Office: An Interview with Pediatrician Dr. Jim King

Posted August 20th, 2012 by

You may recall that in July we shared a video about Doctors 2.0 and You, a conference focused on how physicians are using web 2.0 technology.  Today we’d like to present a real-life example of this concept: Dr. Jim King, MSc, MD, FRCPC.  A pediatrician at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Dr. King runs a number of different clinics for rare diseases.  He also serves as the hospital’s Medical Director for Informatics.  Find out how he has used PatientsLikeMe as part of his practice and much more in our interview below.

Dr. Jim King, MSc, MD, FRCPC, Medical Director for Informatics and Pediatrician at the Children's Hospital of Eastern Ontario (CHEO)

1. How did PatientsLikeMe come to your attention?

We were doing a presentation a number of years ago, in 2006 I guess. We were talking about a number of things, but more specifically the use of mobile technology in healthcare and research as well as personal health records. So we were sort of working up some information and then we came across PatientsLikeMe. We were basically looking at some of the business models around personal health records, specifically around Microsoft Vault and Google Health and those things, and we thought PatientsLikeMe had a little bit of a different spin.

2. As a pediatrician, how have you used PatientsLikeMe?

I specifically used it in one of my clinics. I follow a number of teenagers that have orthostatic intolerance and also chronic fatigue and fibromyalgia and other conditions related to orthostatic intolerance. I get a lot of questions about different medications. The families are very well versed in information and are always looking for new sites to visit. So I will often direct them to PatientsLikeMe. You can find sites with support groups, but you never really know how many people are involved. Then people are going online and looking up things by themselves. But I felt that all the information being presented back through PatientsLikeMe was pretty good.

One example was a 16-year-old patient with fibromyalgia. Their family doctor had recommended she take gabapentin based on a news article. So in the past, and even currently, one of the ways I would look at this situation and get as much information as possible would be to go on sites like PubMed or Bandolier, the Oxford site in the UK, and try to pull together what worked and what didn’t work. Some of these sites are pretty good because often they will tell you what the positive outcome is. But one of the difficulties is that they don’t always tell you what the adverse affects are.

Side Effects Reported by PatientsLikeMe Member for the Medication Gabapentin

It was nice because I sat down with this patient and we pulled up PatientsLikeMe. And I think at that time there were a couple hundred patients that had been on gabapentin and the actual number that had side affects, I’m just recalling now from a few years ago, was equivalent or slightly greater than the amount who had actually benefited from the medication. So we made a decision at that time not to actually go on gabapentin. Instead, we tried some other things. It was very helpful in my daily stream of care to be able to do that.

3.  We have a large community of fibromyalgia and chronic fatigue syndrome (CFS) patients at PatientsLikeMe. What are some of the challenges for adolescents with these conditions?

There are multiple challenges. I think the first challenge is that it’s really an undefined condition. There isn’t a specific diagnostic test, so labeling is a bit of a challenge. Sometimes it takes time for people to understand the impact. And, it’s the same as any chronic illness that doesn’t have overt physical symptoms. You know, everyone looks normal but they feel terrible. When you’re feeling bad all the time physically, or a lot of the time physically, that can make you feel unwell mentally. So having a place where you can go to actually hear that and learn how other people are coping and dealing with it is a big benefit. It certainly shouldn’t hurt, right? And there can be some pretty positive effects from having a community as well.

We are making a diagnosis based on a constellation of symptoms so there are probably a lot of different disorders or a lot of different reasons why someone has a diagnosis of chronic fatigue. So because it’s such a heterogeneous group, there are going to be a lot of different management and therapeutic approaches. So, you really need a large number of people to start understanding what’s working and what’s not working. And again, compiling and pulling that information together is quite beneficial.

4.  Do you have any thoughts on how large online data sets at PatientsLikeMe or other websites could shape the future of healthcare?

You can’t manage what you can’t measure, right? That’s quite obvious. So, if we can do better measurements along knowing what your population is, but have something on what the actual outcomes are, that should be beneficial in the long run. It’s like anything. You have to know your population really well. And if you can define your population really well, then these large data sets, and I would say sites like PatientsLikeMe, can be quite powerful. It is a definite movement and force going forward, for sure. You need thoughtful stewardship for this, and you need a thoughtful ability to analyze the data and make clinical sense from it.

5.  Anything else you want to add about PatientsLikeMe?

For me, there are two other things.  First, the actual connections for people from sites like this are quite important – you know, the support group piece. And also you will have people with multiple problems and they may be doing something that seems to be a bit unique but is beneficial. Also, say you have a condition which is rare and there are only a couple of hundred cases in the world. You learn so much more when you start connecting and you find that maybe a problem, like fever, is a normal part of the illness and people just haven’t gotten together to figure it out. Being able to share that information relieves a lot of stress for families – we hate the unknown – and is quite powerful.

Second is the explosion in clinical information, especially the way things are going with genetics, molecular biology and bioinformatics. The ability to be diagnosed or know your risk and response to treatment with one or multiple diseases based on your genetic material is fantastic.  While there is tremendous potential, this is extremely complex and what we are going to see is that our phenotypes, our observable characteristics or traits, may or may not match our genotypes, the inherited instructions within our genetic code. I think sites that can link large groups are going to become more powerful.

So, as we are pulling all those things together, it will be important to have a source where you can actually be able to make sense of it and make it a lot easier to get some prognosis for guidance for people about what’s going to happen. Because a lot of times, you’re sort of in the dark with a lot of uncertainty for some conditions. So I think pulling that information together can be quite powerful and liberating.


The Future of the Personal Genome

Posted May 21st, 2012 by

“If you want to understand health, you have to understand what it means to be sick, at phenomic and molecular levels, so you can correct it in a holistic and effective way.”
Jamie Heywood

In February, PatientsLikeMe Co-Founder and Chairman Jamie Heywood was invited to participate in a “Innovation Series” panel sponsored by the MIT Enterprise Forum of Cambridge.  Entitled The Future of the Personal Genome, the event focused on what lies ahead now that genome sequencing is becoming more affordable for the average person.  (It cost around a million dollars in 2007; today, it costs close to $1,000.)

What is Jamie’s perspective on personal genetics, including the issues and opportunities involved?  Check out the first seven minutes of the video below for an overview.  From there, the panel – which included Dr. Michael Pellini, Dr. George Church and Colin Hill, and was moderated by Dr. Kevin Davies – digs into the intricacies of this important topic, including how to use genetic data to develop more personalized medicine.


Rare Disease Day: Together, We Can Do More

Posted February 29th, 2012 by

All Around the World, People Are Observing Rare Disease Day Today

Today is the fifth annual observation of Rare Disease Day, an international event recognized in more than 50 countries.  (Learn about US activities here, including a day of lobbying on Capitol Hill for the ULTRA Act, which aims to stimulate the development of treatments for rare diseases.)

What’s a rare disease, you ask?  It’s a condition that affects less than 200,000 people in the US – or less than 1 in 2,000 people in Europe.  There are more than 7,000 such disorders (80% of which have identified genetic origins), and collectively, they affect an estimated 350 million people worldwide.  Yet because of the lower prevalence of the individual diseases, they often receive little attention.

The 2012 Rare Disease Day theme is “Solidarity,” highlighting the importance of collaboration and support among patients with rare diseases.  Despite the wide variability of symptoms, patients with rare diseases face many of the same challenges, which may include a difficult diagnosis process, isolation, high cost drugs (if they exist), lack of information and inequities in the availability of treatment and care.

At PatientsLikeMe, we are committed to bringing patients together and speeding up the pace of medical research.  That’s why we partnered with the R.A.R.E Project last November to find and connect one million patients with rare diseases.  “It’s terrifying to think you’re alone and manage your rare illness with a doctor who might not have ever seen another patient like you,” says PatientsLikeMe Co-Founder Jamie Heywood.  “We will change that.”

If you know anyone with a rare disease, please encourage them to join PatientsLikeMe and help create a well-defined patient registry for the benefit of both patients and researchers. Also, PatientsLikeMe members—with or without a rare disease—can show solidarity by following the R.A.R.E Project’s profile.


Moving Genetic Data Discovery Forward

Posted October 26th, 2011 by

In August, we proudly announced that PatientsLikeMe Research Scientist Catherine Brownstein, PhD, MPH, had won a prestigious “Young Investigator Award” from the International Congress for Human Genetics (ICHG). As promised, here is Catherine’s first-person report from the conference, held October 11-15, 2011, in Montreal.

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12th International Congress of Human Genetics

The 12th International Congress for Human Genetics (ICHG) was a fantastic learning experience with 7,200 geneticists, doctors and researchers in attendance – making it the largest ICHG ever.  The talks were of the highest quality, and the latest genetics research was presented and discussed.  It was an honor to give one of these presentations, since only 8% of those who applied were awarded the opportunity.

That brings me to the main purpose of this blog post: A big THANK YOU to the members of PatientsLikeMe. Your data made our presentation possible. I spoke about the ALS pilot program for genetics entry and search functionality, which allows ALS patients to enter their causative genetic mutations (such as SOD1 A4V, SOD1 D90A and VAPB P56S) and find others with the same genetics. It was a groundbreaking project, and we hope to implement it site-wide in the near future.

I also presented some of the key results from our recent survey on genetic testing:

  • 16% of you have had some form of genetic testing.
  • Of those who have been tested, 31% have had a direct-to-consumer genetic test.
  • If cost were NOT a consideration, 83% of you would be at least moderately interested in getting a comprehensive personal genetic test.
  • 68% of you said you would be at least moderately interested in finding others with the same genetics as you.

Thanks again for your participation in the survey, for being members of PatientsLikeMe and for sharing in our research efforts. I hope that next year I’ll be presenting PatientsLikeMe’s site-wide genetics functionality.

PatientsLikeMe member cbrownstein


PatientsLikeMeOnCall: How Genetics Bears on Your Condition

Posted September 2nd, 2011 by

PatientsLikeMe Research Scientist Catherine Brownstein, PhD, MPH

Welcome to the fourth installment of our new PatientsLikeMeOnCall podcast series entitled “It’s Friday – Let’s Journal Club.”

This week’s interview is with PatientsLikeMe’s own Catherine Brownstein, PhD, MPH, who recently won a highly competitive award from the International Congress of Human Genetics (ICHG). One of our in-house Research Scientists, Dr. Brownstein captivated PatientsLikeMe headquarters last Friday with her Journal Club talk about what the ICHG award means as well as how the study of genetics can influence healthcare decisions.

Afterwards, PatientsLikeMe’s Aaron Fleishman sat down with Dr. Brownstein to learn more about how the ICHG award is selected as well as how it spotlights PatientsLikeMe’s potential as a platform for genetic discovery. Listen in below to hear what Dr. Brownstein had to say about how your genetics can affect your condition – from how you metabolize drugs to how your disease will progress.


What Data Do We Sell? A Continued Discussion about “Data Scraping”

Posted October 21st, 2010 by

ThiefIn response to the Wall Street Journal article published last week, we’ve had a lot of great discussions about the role of honesty and transparency. Transparency is about you – members of the PatientsLikeMe community – knowing how we make money and what we do with the data you’ve entrusted to each other and PatientsLikeMe.

To continue the dialogue, we’re writing this blog to respond to a few recent articles that have suggested we do something other than what we’ve said.  See BNET’s “PatientsLikeMe Is More Villain Than Victim in Patient Data ‘Scraping’ Scandal” and Internet Evolution’s “Personal Data Mining: Government & Business Share Blame” (since corrected).

To start, the characterization as villain is nicely hyperbolic for a headline, but inaccurate.  Villains are dishonest.  As a company, we strive to be honest and transparent – both are key parts of our Core Values as an organization.  To that end, let us dig in on a few of your recent follow-up questions:

  • Does PatientsLikeMe sell our identifying data (like name, photo, bio, etc.)?
    No. We’ve asked for a correction in the Internet Evolution article because their statement about scraping the names you use to sign up for the site is incorrect. In the BNET article, the author cited our Privacy Policy, which indicates what data patient members can share on their health profiles at PatientsLikeMe.  This is not the same as the data we sell.  In addition to linking our partners site right off our homepage (where we list out the products sold to partners), we also call out “how we make money” on the front page.  Part of this FAQ was cited, but the very important point about “personally identifiable information” is below:

    • How does PatientsLikeMe make money? We take the information patients share about their experience with the disease, and sell it in a de-identified, aggregated and individual format to our partners (i.e., companies that are developing or selling products to patients). These products may include drugs, devices, equipment, insurance, and medical services. We do not rent, sell or share personally identifiable information for marketing purposes or without explicit consent. Because we believe in transparency, we tell our members exactly what we do and do not do with their data.  (Read more)
  • Is this a “privacy scandal”? To us, it’s not a discussion about whether or not health information should be private. (Don’t get us wrong – that’s an important discussion too, but we’re pretty clear on where we stand on that – see our Openness Philosophy). The issue here is that Nielsen was not given consent of the patients, nor PatientsLikeMe, to scrape information from our site. As we’ve said before, we believe this scraping incident was a violation of our User Agreement and a violation of patients’ trust.
  • Isn’t PatientsLikeMe doing the same thing as Nielsen? In addition to our User Agreement and Privacy Policy, we also have a moral obligation to our communities to do the right thing. In this case it means: 1) having this dialogue openly and honestly; 2) being selective about the projects we work on and our partners; and 3) contractually obligating our partners not to ‘re-identify’ our patients with our data or other data (which would mean a pharma company would be taking on liability using a service like PeekYou in conjunction with PatientsLikeMe data).

Our site wouldn’t exist if we had to “persuade” you, the patient, to share your data. Many of you find value in sharing; value in that level of openness.  What you should expect in return is a level of transparency about what we will and won’t do with your information. We hope we do a good job of providing that transparency.  What do you think?

PatientsLikeMe member bheywood PatientsLikeMe member jamie


Personalized Medicine: Making It All About You

Posted July 29th, 2010 by

pmtopbannerEarlier this year, the University of Arizona hosted a unique meeting for scientists, policy makers, and law experts to explore the legal, ethical, and policy implications of personalized medicine. The opening keynote was by Dr. Lee Hartwell, 2001 Nobel Prize recipient in Medicine / Physiology and Director of the Fred Hutchinson Cancer Research Center and he invited the audience to consider the role of patients in research. He stated that there was an “increasingly important role for patients in this process” and that scientists currently “rely on trial data, totally insufficient to the problem.”  Dr. Hartwell also stated that “when you talk to patients, they want to make a contribution. They would like their medical info made useful to other people. The only thing that keeps them from doing so is the threat of losing their life insurance or losing their job.” The views of pioneers such as Dr. Hartwell are important in medicine and it was energizing to hear such a well regarded figure espousing a philosophy with which we so strongly agree.

The lunchtime speaker was David Ewing Duncan, a journalist whose recent book “Experimental Man” detailed his journey to try and undergo every medical test available to science (including genetics, brain scans, and lab measures) in order to find out more about his health risks and how to live the best life possible. As the cost of genetic sequencing comes down to the mythical “$1,000 genome,” we may one day all take the same journey as Duncan to explore how much of our health outcomes are determined by data accessible to us right now. There will undoubtedly be ethical and moral conundrums along the way as genetic science moves from the specialist clinic to all of us as consumers, but ultimately understanding your own DNA is as much of a right as being able to look in the mirror.

Moving from genotype to phenotype, I gave a presentation in the afternoon about our work at PatientsLikeMe.  More specifically, I focused on how our platform allow patients with serious medical conditions to find out where they stand in the context of other patients like them, and how systems like ours might one day be able to help guide them to the most effective treatments to improve their outcomes.  Highlights from my presentation are now on our YouTube page.

PatientsLikeMe member pwicks


ALS Awareness 2010: A Four Year Journey With Our PALS

Posted May 28th, 2010 by

Four years ago this Spring, PatientsLikeMe launched the ALS community with very specific goals in mind – to help patients like you take control of your disease, share and learn from one another, have a voice in real-world research and inform the companies that make your drugs and can improve your care.  Together, we have come so far as a community in making those goals, those dreams happen.  Today, to close out ALS Awareness Month, we want to honor that journey by highlighting some of the milestones you as a community have achieved.

As many of you know, the journey started when PatientsLikeMe was inspirstephensprofileed by Stephen Heywood, a young man diagnosed with ALS when he was only 29 years old. His brothers Jamie and Ben, and long-time friend Jeff Cole, built PatientsLikeMe and its flagship ALS community to help Stephen and other patients like him. After four years since launching the ALS community, more than 4,500 of you – our PALS – are still sharing your data and experiences to help others. Along the way, we’ve lost some of our friends, including Stephen, but their contributions live on in the data they’ve shared with us to help further the understanding of this disease.  Jamie recently said it this way: “the desire is that this disease should no longer kill, but we do our best to help people live with it today.”

Thank you for living with it today and sharing those experiences with your fellow PALS, industry, researchers…all of us.  You are truly making a difference.

  • Spring 2006: The ALS community launches!
  • February 2007: PatientsLikeMe wins its first scientific award for a poster describing our work in ALS at the British Neuropsychiatry Association AGM in London, England.
  • July 2007: Your contributions lead to PatientsLikeMe’s first scientific discovery. PatientsLikeMe publishes a paper in Acta Psychiatica Scandinavica showing that some PALS experience uncontrollable bouts of excessive yawning; an unusual symptom twice as common in the bulbar-onset form of the disease compared to those with a limb-onset.
  • December 2007: Your sharing of real-world experiences helps PatientsLikeMe make a big splash at the International ALS/MND Symposium in Toronto, Canada. The team gives its first platform presentation to show off the website, and your health data, to ALS researchers, scientists, and clinicians.
  • February 2008: An Italian study finds that the drug lithium carbonate slows the progression of ALS. Many of our PALS begin taking the drug, and so with your help, PatientsLikeMe embarks on our own observational study of the drug by launching a novel tool on the site.
  • May 2008: Your voice in research is heard loud and clear.  PatientsLikeMe publishes its first survey in the European Journal of Neurology, showing that while 90% of PALS were warned about physical symptoms of their condition, only 10% were warned about possible psychological consequences, and two-thirds wanted to be told.
  • November 2008: PatientsLikeMe’s Paul Wicks and Jamie Heywood once again attend the International ALS/MND Symposium to give an overview of the history of ALS online, and present our very first findings from the lithium study. Even though we were only presenting preliminary data, there was a lot of buzz about this new and interesting approach to conducting research – with you, the patient, in the driver’s seat. We also gave a few sneak-peeks at upcoming features for the site.
  • December 2008: PatientsLikeMe and some of our fellow PALS are spotlighted in  two major media stories (CBS Evening News with Katie Couric and BusinessWeek) helping to raise awareness about ALS.
  • April 2009: Following the discovery of another gene for ALS in February, PatientsLikeMe adds the ability for patients to enter and use their own genetic test results to find other patients like them with our genetic search feature.
  • May 2009: In response to a request from one of our patients, Cathy Wolf, the PatientsLikeMe research team carried out a study to extend the scale, something we call the ALSFRS-EX (Extension), which helps capture functional changes in patients with advanced ALS.
  • August 2009: Thanks to you, PatientsLikeMe now has the largest dataset of patients with Primary Lateral Sclerosis (PLS) and Progressive Muscular Atrophy (PMA) online than ever recorded before. We shared this data back to the community through an upgrade to our ALS charts.
  • October 2009: The ALS community and all that you’ve shared is the focal point of Co-founder Jamie Heywood’s powerful talk at TEDMED, called “The Big Idea my Brother Inspired.”  In the presentation, he describes the creation of the site, preliminary results of the lithium experiment and shows some of our most advanced tools still in development.
  • December 2009: The power of sharing your health data is highlighted in the PatientsLikeMe presentation at the 20th International ALS/MND Symposium in Berlin where the PatientsLikeMe research team unveiled our next round of analyses on the lithium study.  The team also presents preliminary results of our genetics tool, and berlin-lithium-poster-207x3001a commercial project exploring emotional lability in ALS, undertaken with our partners Avanir Pharmaecuticals  (see “how we make money“).
  • January 2010: PatientsLikeMe rolls out new profile charts in the ALS community to help you, the patient, understand your own profile better and tell your story more effectively.
  • April 2010: PALS continue to team up to raise awareness and money for ALS research online and off.  This video highlights your participation in the PatientsLikeMeinMotion(TM) program.
  • May 2010: This month we see the release of a study carried out in collaboration with our partners at the NEALS Consortium investigating some of the barriers to research participation that some of you may experience.  Additionally, all your contributions to the lithium study have been collected and analyzed by now, and the PatientsLikeMe research team submits it for peer-review publication to a leading journal.  Thanks to you and your peers, this final paper highlights the potential of new ways of collecting and analyzing data in ALS to advance clinical trials and find faster cures.
  • May 2011: Just imagine…

PatientsLikeMe member pwicks


A Year in Review: PatientsLikeMe in 2009

Posted December 31st, 2009 by

As 2009 comes to an end, we want to take this opportunity to thank all of our members, partners and general fans for another great year.   Here’s a recap of some of the exciting happenings at PatientsLikeMe these past 12 months.  Wishing you all a Happy New Year!

Community Milestones
This year, the 15+ disease communities at PatientsLikeMe became an online home to more than 50,000 members.   The fibromyalgia community was expanded this past fall to include patients with chronic fatigue syndrome, and we announced a new community scheduled to launch early next year for people with epilepsy.  In addition to celebrating our communities’ awareness days and months within the site and right here on the blog (including Fibromyalgia Awareness Day, MS and PD Awareness Months, National HIV Testing Day and World AIDS Day), many of img_8741-300x225our members also participated on PatientsLikeMe teams in walk/run efforts to raise awareness and money in the name of their disease.  Congrats to the 40+ teams walking at events to support non-profit organizations like ALS Association, National MS Society, NAMI, Parkinson’s Alliance, APDA, and the MS Society of Canada. The real-time sharing and learning happening on PatientsLikeMe was also highlighted in the report series called The Patient Voice (starting with inpatient therapy for people with Mood conditions).  Check out highlights from all these programs on these videos from the Fibromyalgia, Parkinson’s, Multiple Sclerosis and Mood communities.

Many of our members have also become fans of PatientsLikeMe on Facebook.  Here are a few quotes posted to our Facebook page in ’09:

I find this site so beneficial in looking for the tools to cope with the disease. People post research and real-life patient experiences of current trials and treatments. Hope is a major focus of PLM and I encourage others to join. We are strong in numbers and we have a voice.”

“PLM is a wonderful way to express what and how to live with this disease. It has changed my life for the better, have met wonderful individuals and we have shared, cried and grown by reaching out and expressing from our hearts, have made wonderful friends and have learned so much.”

Research Updates
If you haven’t checked out our research page or subscribed to Google Scholar alerts (92 articles referred to us in 2009!), here’s what you’ve been missing…

This year our ever-growing research team continued their analysis of the real-world data being shared by patients like you.  Awarded the inaugural JMIR award at Medicine 2.0, the PatientsLikeMe research team published pieces on compulsive gambling in patients with Parkinson’s disease in Movement Disorders, expanding the gold standard rating scale in advanced ALS in European Journal of Neurology, and “The power of social networking in medicine” in the highly respected journal Nature Biotechnology.

Throughout the year, the team has also shared insights via videos (like this series on the history of ALS or a recap of a study on the antidepressant Amitriptyline) and various presentations (such as an overview of our work at the at Eurordis berlin-lithium-poster-207x3001AGM in Athens and updates on our lithium study at the International ALS/MND Symposium).  In addition to working on the development of our new communities, the team took additional steps to incorporate genetics into the PatientsLikeMe platform.  By participating in new partner studies (such as 23andMe and NEALS) and utilizing new product upgrades, including the launch of the Genetic Search Engine, patients are learning more about their condition and coming closer to answering the question:  “Given my status, what is the best outcome I can expect to achieve, and how do I get there?”

Keep your eyes out for more to come in 2010 as our R&D team rolls out more insights and outcomes measurements (like the Quality of Life scale in HIV), more improvements to the PatientsLikeMe platform, and cutting edge research in the peer-reviewed scientific literature.

The Business Side
As Ben said in a recent blog post, “we can’t have a business without you [the patient] and our communities can’t exist to help patients without a business.”  Throughout the year, the PatientsLikeMe executive team traveled around the world to present to industry partners, researchers, healthcare professionals and government leaders about the power of real-world patient data-sharing.  Here are some highlights from ’09:

  • The National SummitInnovation: As a leader in Health 2.0, PatientsLikeMe executives are often asked to speak at various industry events.  Check out photos of Ben speaking at The National Summit and stay tuned for videos from Jamie’s presentation at TEDMED and David’s presentation at Bil:Pil.  You can also tune in to our live event tweets on the PatientsLikeMe Twitter account in 2010.
  • Media Highlights: PatientLikeMe members, data and executives were also featured in media mentions throughout 2009, including WIRED, Forbes, U.S. News & World Report, Fox Business Live, Newsweek, New York Times, as well as Seed magazine, Nature Biotechnology and Neurology Today.

Happy New Year!
– The PatientsLikeMe Team


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


FALS Patients Like You: An Interview with Samperio

Posted July 8th, 2009 by

Today, more than 3,600 people with ALS are sharing their health data and experiences with patients like them.  Recently, we announced our new genetic search engine for ALS patients, designed to help members find others like them, right down to the molecular level.  With 10% of all newly diagnosed ALS patients joining PatientsLikeMe, there are more and more people sharing their health information, including genetic data, to help learn about this disease.

Our research team’s geneticist Dr. Catherine Brownstein recently interviewed Samperio, one of the first members to enter in his genetics on PatientsLikeMe. Later this year, Catherine will be presenting the genetic data shared on PatientsLikeMe to the leading doctors, researchers and thought leaders in the industry to help us all learn more about ALS, and the genes affecting the condition.

Here’s what Samperio had to say about life with familial ALS (FALS) and hope for the future.

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18520 (Catherine) Thanks for agreeing to the interview!  You recently joined PatientsLikeMe and revealed that you have a SOD1 genetic mutation, the cause of your familial ALS.  When did it all start and how has this form of ALS affected you and your family?
6001
(Samperio) My ALS is affecting my family [the same] as any other form of ALS. I stopped working, and my wife has to work for both of us. I never had the chance to play soccer or teach my 9-year old son to ride a bike, as I did with my previous sons.

I lived the same ALS story with my mother.  She died when I was 18. It took her approximately 10 years, from beginning to end. My symptoms begin at age 40; my ankles were weak. So I was suspicious of ALS. A few years later, I had the DNA exam in Houston, TX and it came positive for FALS.

My biggest hope is my family, especially my wife. I know what a burden I am, since I lived that experience with my mother.

18520 (Catherine) You previously mentioned that your doctor had never seen your genetic mutation before.  How much do you know about your SOD1?
6001 (Samperio) Almost nothing. The DNA exam was performed 6 years ago. The doctors never told me anything regarding my genetics.

I have never met anyone with FALS.

18520 (Catherine) So now you’ve joined a site with people just like you — even people with the same genetic causes for ALS.  What has been your experience on PatientsLikeMe?
6001 (Samperio) By joining PLM, I have found so much comfort on all the daily interaction, reading all those people [with the same disease] who share the same interest as I do.
18520 (Catherine) What is your hope for the future of ALS research?
6001 (Samperio) As for the future of the ALS research, obviously to find a cure for this disease.

I will give all [my] help to the ALS cause.

18520 (Catherine) Thanks again for sharing, Samperio!

PatientsLikeMe Teams Up with 23andMe to Help Parkinson’s Patients

Posted June 9th, 2009 by

picture-3Despite some recent happenings in the news, we’re here to assure you that health 2.0 is still very much alive.  Here’s our recent announcement about our new partnership with 23andMe.

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PatientsLikeMe, the first community-based personalized medicine platform for people with life-changing conditions, and 23andMe, the world’s leading personal genomics company, announce a partnership today to help people with Parkinson’s disease.  PatientsLikeMe is teaming with 23andMe on its effort to recruit 10,000 people with Parkinson’s for a massive study of the disease, and give patients a way to learn more about their personal genetics.

“Today, technology is moving faster than the research establishment,” says James Heywood, co-founder and chairman of PatientsLikeMe.  “We are excited to see what happens when you give patients the ability to see variations of their disease and compare it to their own, while enabling them to easily define their personal genomics.”

More…