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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	(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?
	(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.
	(Catherine) You previously mentioned that your doctor had never seen your genetic mutation before.  How much do you know about your SOD1?
	(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.
	(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?
	(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.
	(Catherine) What is your hope for the future of ALS research?
	(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.
	(Catherine) Thanks again for sharing, Samperio!

This month marks the 3-year anniversary of our flagship ALS community.  While there have been so many exciting milestones we’ve reached in that time, we’re always looking at ways to bring new insight to this disease.

In today’s issue of the journal Science two papers describe the discovery of a new gene for ALS (you can read the abstracts here and here). Around 90% of ALS cases are sporadic, i.e. we don’t know what causes them, but for 5-10% of patients the disease runs in their family (known as familial ALS, FALS). Until today, there was only one major causative gene that we knew about, called SOD1, which accounted for 20% of familial cases. Today’s new discovery of the gene FUS (also known as ALS6) accounts for an additional 3-5% of familial cases and was the result of an international collaboration between scientists in Boston, London, and Sydney. This is very exciting for research because the more we know about what causes ALS, the better our chances of finding an effective treatment through better understanding of the pathways involved in motor neuron degeneration.

Here at PatientsLikeMe, we’ve recently upgraded our ALS platform to capture data on familial ALS patients’ known genetic mutations. The goal is to help familial ALS patients find another patient like them, and to enhance understanding of the phenotype of each mutation, e.g. if different types of mutation cause a faster or slower disease progression. Ultimately our aim is to try and establish whether there might be any treatments that have a differential effect on patients with different disease-causing mutations. There are examples of this already known in other diseases; for instance the presence of absence of the Philadelphia chromosome in chronic myelogenous leukemia (CML) predicts whether the patient will respond to the drug Gleevec. Although there is currently only a single effective treatment for ALS (Rilutek), there are a number of trials underway investigating the potential of drugs for patients with specific gene mutations.

The unique outcome data captured on the PatientsLikeMe platform also allows us to learn more about the nature of the disease for FALS patients with different genetic mutations. In the graph above you can see the average rate of progression for patients with three different FALS mutations; the common and aggressive A4V mutation (sadly average survival is ~18 months), the rarer recessive D90A mutation (much longer average survival of ~13 years), and a very rare and recently identified mutation of VAPB, referred to as ALS8. Collecting genetic data and combining it with high-quality patient-reported outcomes helps a patient to answer the question “Given my status, what is the best outcome I can expect to achieve, and how do I get there?”.

Note: If you have familial ALS and know your genetic mutation status please consider joining our ALS community and sharing your genetic information through your diagnosis history.