2 posts from February, 2009

A new gene for ALS: What sharing your genetics could mean for research

Posted February 27th, 2009 by

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.

als_genetics-annotated-copy

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.

cat-badge paul-badge1


Patients Like Me Can Run 13.1 Miles With Fibromyalgia

Posted February 6th, 2009 by

13.1 grueling miles.  A half marathon.  Running that distance for anyone is a challenge that takes months of training and dedication.  Imagine running that distance having fibromyalgia.

My close friend and PatientsLikeMe member, Minnie Lee, has fibromyalgia and courageously ran in the Surf City Half Marathon last Sunday.  This wasn’t even her first time running it.  She has dedicated herself to running and finishing half marathons and triathlons despite her disease.  Pain or no pain, Minnie finishes.

PatientsLikeMe was there to sponsor and encourage Minnie to achieve her goal:  finish in under 3 hours.  “I run because so many people can’t,” says Minnie breathlessly through tears after crossing the finish line.  Supported by close friends Shirley Huang and Lilian Tham, Minnie finished strong despite the pain.

Yes, Patients Like Minnie can run 13.1 miles!

For more inspirational videos from our fibromyalgia community, visit www.youtube.com/PatientsLikeMeFibro.

PatientsLikeMe member dwilliams