Compendium: NDF Black and White Ball, Rare Disease Report Short Video, GNEMP Newsletter, Israeli Support Group and Chinese Patients

The NeuroMuscular Disease Foundation (NDF) held their annual Black and White Ball, and Fundraiser  at the Beverly Hills Hotel in Los Angeles Ca..  There were approximately 400 in attendance.  I, along with other patients, attended this special event.  We were well entertained with comedian Tim Homayoun and the Master of Ceremonies Steve Mittleman.    Lale' Welsh, along with her staff, were very attentive to every detail of this evening.  A delectable dinner was served. 
This event was to honor Dr. Argov and Dr. Rosenbaum, and to raise funds for the research and cure of Gne-myopathy.  Jennifer Y., a fellow Gne-myopathy patient gave a very moving speech  Some patients also shared their experiences of what it is like living with Gne-myopathy. The flawlessly exquisite evening could not have been possible without Lale' Welsh (CEO), her staff, and  scores of NDF ambassadors who have worked to increase the awareness of Gne-myopathy. It is very remarkable that the love of a mother for her daughter has blossomed into the NDF and the community continues to nurture this love.

The Rare Disease Report made a short video of me speaking when I attended the Global Genes Summit recently.

https://www.youtube.com/watch?v=XrJUONgNhb8&feature=youtu.be

Here is a the most recent Newsletter from GNE-Myopathy Monitoring Program.  It is very informative and features  a Gne-myopathy patient from Brazil, foods rich in Sialic Acid, as well as the  various centers that are now recruiting for the phase 3 Sialic Acid trial. Please consider participating if you meet the criteria. Please refer to this link:
http://gnem-dmp.com/ht/a/GetDocumentAction/i/1681

Here is a link for the Israeli Gne-myopathy organization which I recently came across on the internet:
http://www.hibm.org.il/english/

I really think that getting accurately diagnosed is a big challenge for Gne-myopathy patients as my family has experienced first-hand.  In recent years, however it has become much more easier to get diagnosed which is done by a (buccal) saliva kit.  Recently,I have discussed an article that I thought would be useful to post this article again in the hope that more undiagnosed patients would consider getting tested for Gne-myopathy. This article states that "The unrecognized high prevalence of GNE myopathy (~ 40,000 patients worldwide; ~3000 patients in USA, instead of previously estimated ~ 400) confirms suspicions that many patients escape diagnosis".
Here is the link for the abstract:.
http://www.neurology.org/content/84/14_Supplement/P2.044

Finally, I understand that there is a large group of Chinese patients in Mainland China.  If you are a patient or doctor in China, Please contact some of the organizations working on treating and finding a cure Gne-myopathy.  Please reach out to me or go to gne-myopathy.org and access the flyer written in the Chinese language. Here is an abstract of 35 patients who were studied:   http://www.sciencedirect.com/science/article/pii/S0022510X15002385

Neuromuscular Disease Foundation Honorees Dr. Argov and Dr. Rosenbaum

The Neuromuscular Disease Foundation will be hosting a Black and White Ball on October 14th. to honor two doctors from Israel  Dr. Argov* and Dr. Rosenbaum**. These doctors have done significant work in the area of Gne-Myopathy.  The NDF will also have a fundraising at this event to help towards funding a cure for this disease.

Please share this link of the event to help us to increase the awareness and funding of Gne-Myopathy.
http://www.eventbrite.com/e/ndf-black-white-ball-2015-tickets-18175871521

 Professor Argov’s main focus of research has been in Jewish hereditary neuromuscular disorders. He first described the seminal features of GNE myopathy in Persian Jews in 1982. Thirty years later, in association with Dr. Stella Mitrani-Rosenbaum, they identified the gene defect in HIBM.  This prolonged collaboration has done much towards understanding the mechanism of GNE myopathy (HIBM) and in developing ways to treat it. 
 Dr. Mitrani-Rosenbaum is widely known for discovering the gene responsible for GNE Myopathy (HIBM) in 2001.  Her lab is now dedicated to research on this condition, and continues to study targets for potential treatment

Global Genes Summit, Huntington Beach, California, Video Lale Welsh (NDF), and Ultragenyx's Update on Phase 3 Sialic Acid Trial

 This is the second year I have attended this Summit.  If some of you remember, last year, it took me about 12 hours via ground transportation to travel to the summit; this year it took only seven hours. Timewise, I am making progress.  It was very educational and empowering.  It offered  me a way to network with researchers, doctors, policy-makers, and patients in the rare disease community. For those who were unable to follow the live feed or find it too daunting a task to sift through the many presentations I have summarized the information that I think would be of interest to Gne-Myopathy patients. I trust this summary will clarify what was presented.

 Lale Welsh Executive Director (NDF)
Ms.Welsh is from the Neuromuscular Disease Foundation. NDF funds scientists working on Gne-Myopathy, helping patients with screening, and  testing. Here is a brief video of Ms. Welsh summarizing  the symptoms, potential treatment, and testing  associated with  Gne-Myopathy. Thank you Ms.Welsh for focusing the spotlight on our disease. Here is the video link:
https://www.youtube.com/watch?v=pYa8qWz6_p0&feature=youtu.be
For more information  about the Neuromuscular Disease Foundation site please follow this link
http://www.ndf-hibm.org/

 Dr. G. Rao, Director  of Orphan Products Development, The Food and Drug Administration (FDA)
 Her presentation was focused on the FDA's  partnering with patients. A secondary focus was the pharmaceutical companies and  drug development.  The FDA would like more input from the patient community. She listed some areas where patient and/or patient organizations need to focus.  first and foremost that would include (1) Create a robust patient registry;  (2) Educating ourselves about the FDA regulatory process;  (3) Partnering with industry in areas where patients can help to design trial studies, and, (4) Participating in the FDA Advisory Committees to help them with clinical trials and related input on drug development.  Here is the link for FDA by which a patient can apply to become a Patient Representative. Patients are encouraged to apply to be on the advisory team. Patients are essential in helping to bring effective drugs to the market,  check out these links for more information.
 http://www.fda.gov/forpatients/about/ucm412709.htm
FDA patient network:  http://www.fda.gov/forpatients/about/default.htm

Dr. P.J. Brooks, Ph.D.  fromThe  National Institutes of Health (NIH)
Dr. Brooks stated that there are 7,000 rare diseases that are molecular based for which there are only 500 approved therapies . He also mentioned that it takes approximately $350 million to get a drug to market. Dr. Brooks also mentioned the various institutes associated with the NIH.  Currently, a team led by Dr. N. Carrillo is conducting a phases 1 and 2 trials for Gne-Myopathy using ManNac (DEX-M74) The link for this study:
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

David Glazer, Director of Engineering, Google, and Dr. A. Philippakis from Broad Institute 
They discussed about building a super-platform through which patient groups and the research community would collaborate on storing genomic information. This  will enable scientists worldwide to access and share data. Through this platform they could readily study the natural progressionand history of rare diseases, which would speed up more effective therapies.  Google is looking to do a trial using this platform with three patient groups.  I think this is a great way to speed the discovery of cures. However, we need to be cautious about privacy issues and their related repercussions. Google has partnered with The Autism Speaks MSSG. Here is the link:
https://www.autismspeaks.org/wordpress-tags/google-and-autism-speaks
https://www.autismspeaks.org/site-wide/google


Screening of  The Movie "The Lion's Mouth Open":

We were able to view this documentary and to ask questions from the filmmaker Marianna Palka, who is living with the devastating illness of Huntingtons Disease.  Ms. Palka showed such strength when she received her diagnosis.  This is a heart-wrenching documentary.  She has inspired  and energized me to continue my effort to advocate and spread the awareness of Gne-Myopathy. If I ever feel pity for myself, I plan to watch this movie yet again  because my condition is not nearly as severe as those who suffer from Huntingtons Disease.

Ultragenyx's Sialic Acid Phase 3 Update.  Please read this updated flyer and consider participating in this trial.
http://www.ultragenyx.com/file.cfm/20/docs/GNEM%20Update%20Brochure%204-Page%20Rev%2015.pdf

Global Genes:https://globalgenes.org/

I look forward to next year's summit, and I hope some of my fellow Gne-Myopathy patients will join me.