tara

tara
Meeting my Congressman

Saturday, October 1, 2016

Summing Up the Presentations at the Global Genes Summit, Summary of the First Patient Webinar, Google Group for Patients, Fundraising by Allison and More...

     This year the theme of the Global Genes Summit was "Learn, Connect, and Inspire".  The agenda for this two-day conference was planned and designed in partnership with rare disease patients,caregivers, and experts within the rare disease field. This summit was attended by over five hundred participants. I was quite fortunate to have been able to attend this Summit where I met some old friends and made new some connections.  I came away from this summit feeling quite empowered, informed, and more energized to reach out and connect with those who may be able to help our GNE Myopathy community.  I want to especially thank Global Genes (one of the better-run organisation I have encountered) and its staff for helping me.
     Some of the main points I learned that are globally applicable to our community and I think would help us to focus on are the following:

1. One in 10 Americans suffer from a rare disease which amounts to approximately 30 million Americans, and 350 million persons worldwide.
2.  80% of rare  diseases are caused by faulty genes, as is our disease, the GNE gene.
3. We need to study and incorporate what other successful rare disease communities have done to further their cause and incorporate some of their steps to further ours such as the Jain Foundation and Autism Speaks Foundation have done.
4.  It is vital that we find out who are the main players in the rare disease industry that will move our cause forward, and seek partnership with them
5. We must push for evidence-based therapies, and do not rule out therapeutic foods
6.  Technology both (disruptive and innovative) is very important and may come into play for GNE Myopathy.  An example would be the "Foldit" challenge that the Jain Foundation has successfully launched, and CRISPR  (a)
7.  Precision Medicine (how do we turn a gene on and off).
8.  Our GNE Myopathy community needs to create a platform such that we could give our consent to the experts for them to share and examine our  medical data with others (experts) so that they would be able to access and cross-reference the various registries, natural history studies, our laboratory information and biopsies, as this  data would provide  a more complete picture about GNE Myopathy. Currently, most of our medical data is fragmented.  This important point was brought up as well at the NDF Patients Symposium.

     In most of my blog posts I emphasize the importance of  both the role and the voice of the patients.  We in the GNE Myopathy community need to be actively engaged by pursuing A Cure, at the forefront of our cause  Each of us can play an important part with this cause  by reaching out and building relationships with experts, other patients, biopharma companies, and others who could help us get our cure. Our solution might well come from an unlikely source!  We should uncover every mystery until we get to our final goal.

Complete information on my above take-away points and more  are available on the Global Genes Website
https://globalgenes.org/raredaily/global-genes-platformq-health-to-launch-rareuniversity-com-with-live-coverage-from-the-2016-rare-patient-advocacy-summit/

Summary of the First GNE Myopathy  Webinar by Imad K  and Slide Presentation by Professor A. Bhattacharya  
  • With 20+ participants from various parts of the world and a very engaging agenda, the webinar lasted about 2-1/2 hours. Time of day for the webinar seemed to be best suited for those in North America, Europe, Middle East and Central Asia.
  • Prof. Alok Bhattacharya introduced us to several different potential treatment options and their application in other diseases (Shilpi has posted a slide deck that contains all of that information). The goal is to move forward with a therapy that is fast-moving, effective and affordable.*
  • It was also suggested that one way forward for us is to select one of the many existing therapies being developed that is well advanced in its therapeutic potential (in advanced clinical trial stages) e.g. messenger RNA therapy. This would make it faster and easier to bring that therapy to the market.
  • Ultragenyx has a study on mRNA therapy but GNE Myopathy is not included amongst the conditions being tested at this time.
  • Some patients have reported small-scale success stories after having tried alternative therapies such as stem cell therapy and homeopathic medicine.
  • Many are eager to learn about an appropriate exercise regiment that may help save active muscles in order to stop/slow progression until a cure is made available.
  • Patients have shown interest in getting involved with the initiative and would like some direction on how to do so.
  • Please provide feedback or suggestions for future webinar via our private f/b group or feel free to email me.
*Note: Currently, my blog program is not allowing me to attach the Power Point slides presented by Prof. Bhattacharya.  Please contact me or gne.myopathy@gmail.com
if you would like a copy.

Google Group for GNE Myopathy Patients
We need to utilize all mediums of communication to generate information about  our disease.  This group consists of patients and caregivers.  It is  private and visible only to members in order to maintain privacy.  Please click on the link and request to join.  

Allison's  Ability Fundraising
Please read Allison's courageous story on living with GNE Myopathy and how she is raising awareness and vital funds for research for our community. 

           http://campaign.justgiving.com/charity/muscular-dystrophy/alisonsability

And More...
Here is a link to the most recent GNEM's newsletter.  There is some interesting information about the registry statistics.
https://www.gnemdmp.com/Portals/_default/Skins/Genesis/pdf/GNEM_DMP%20Newsletter_v5%202.pdf

More links on Innovative and Disruptive Technologies:
(a)  http://www.businesswire.com/news/home/20160930005682/en/Online-Gamers-Invited-Tackle-Rare-Muscle-Disorder
http://sitn.hms.harvard.edu/flash/2014/crispr-a-game-changing-genetic-engineering-technique/


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