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A Look Back at 2017, Moving Onward with Hopes for an Effective Therapy, GNE Myopathy International to Host a Conference in New Delhi, India



Dear friends, family and readers:
To keep me motivated, engaged, and invested in managing my physical condition, I usually delve into medical journals, articles, and related information. Recently, a researcher suggested that I study a very timely and fascinating book entitled "The Patient Will See You Now," by Eric Topol.  
Mr Topol states, "When you put together open medicine, open science, open access, open source, and open data-Open-all sorts of new channels of research activity become available, and existing ones become exponentially more powerful" (p.211).  I find this quote quite befitting  for the strides we are making in our GNEM community, even though  we may have had a minor setback with the termination of Silac Acid-ER trial, it has also opened more doors to us for further research into the gene such as the global effort being led by the Neuromuscular Disease Foundation (NDF). The NDF is now collaborating with Perkin Elmer to conduct Whole Genome Sequencing (WGS) on 100 GNEM patients.  For additional information on this refer to:  Link for the Press Release


  
The NDF has set the stage for exponential growth in 2018 such as spearheading a Scientific Consortium through which scientists from around the world would be able to share and collaborate on GNEM research, gene therapy (which) is in the "toxicology study" stage, and Whole Genome Sequencing. 
In addition, the NDF Symposium in the summer of 2017 has set into motion a global network of patients who are certified GNE Myopathy advocates. These dedicated advocates are prepared to bring programs to patients and their families in their respective countries.Their intention is to bring GNEM patients together, disseminate information about GNEM, and find un-diagnosed patients. The certified advocates work as outreach to patients and families assisting them with finding appropriate resources. These advocates host GNEM Patient Days in their home countries. So far, Patient Days have been celebrated in Israel, Italy, and Korea. There are more of these events planned for 2018  in the United Kingdom, Turkey, and other countries. We are inspired as patients and continue to tip the scale by finding new patients. This is what is needed to attract more attention to GNEM.

Following the theme of "exponential growth", GNE Myopathy International  (GMI) will start out 2018 by hosting a two-day ground-breaking conference on the "Perspectives in GNE Myopathy"  This conference is a first of its kind for a rare disease to be held in New Delhi, India, on February 16 and 17, 2018.  Many known GNE Myopathy researchers, scientists, and doctors will be presenting at this conference. All GNEM patients and families are invited to attend this conference. Based on the population of India,one would assume that there are yet many undiagnosed patients unknown to doctors. With this conference the hope is to attract more attention to GNE Myopathy and to build a strong and cohesive patient community to take us to a step closer towards a treatment for GNEM.
Please refer to this link for registration and the programme.
** I urge everyone who is able to, to attend this conference. This is your chance to meet directly with the researchers who are studying our disease.

GNE Myopathy International continues to offer their educational webinar series  based on what interests GNEM patients.  Here is a link to the webinars that GNE Myopathy International has conducted.   Please feel free to suggest topics for future webinars at:  http://gne-myopathy.org/contact_us

NIH National Human Genome Research Institute
ManNAC 
The National Institutes of Health (NIH) recently completed Phase 2 trial using ManNAc and will be recruiting patients for Phase 3 trial in 2018.  Monitor this link for when the trial will start.  NIH ManNAc Site.

An article on the Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy

When I started writing my blog, little over five-and-half years ago, I knew just a handful of GNEM patients. I felt alone, along with my siblings of course, living with such a "funny" disease.  As the years progressed my meeting of patients has grown exponentially. I have met scores of patients and have been reaching out to many on a daily basis around the world. I feel more at ease now, knowing that I have met so many with my disease - we are all in this together.  Meeting you,  contacting you, and responding to your queries, requests, and questions have given me a meaningful purpose to serve our community. Thank you. May our days in 2018 be those of  finding more undiagnosed patients, effective therapies, and cutting developments for GNE Myopathy.





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