CATEGORIES: Research
genomics

CMT On The Cloud

by | Dec 27, 2018 | 0 comments

genesis project

HNF takes Action and Joins Genomics Revolution for CMT and Rare Forms of IN

Lori and Stephan

Stephan Züchner, Founder of The Genesis Project, a cloud-based database designed for storing and analyzing genomic data, joins HNF’s TRIAD Gene Therapy Research Initiative. Also pictured Lori Sames.

“The partnership with HNF is a big step towards our mission of providing advanced genetics to even more CMT patients, ultimately guiding the way to new therapies.” – Dr. Stephen Züchner, MD, PhD Professor for Human Genetics and Neurology Chair, Dr. John T. Macdonald Foundation Department of Human Genetics Co-Director, John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine and founder of The Genesis Project

“I love what I do and I’m eager to apply what I’ve learned to other debilitating forms of inherited neuropathies. The technologies exist to treat many of these horrific disorders, but what’s absent is the attention and funding.” – Lori Sames Co-Founder of Hannah’s Hope Fund for Giant Axonal Neuropathy

“Fighter Mom” Lori Sames joins the Genesis Project, too! Lori from her kitchen table lead the development of the first-in-human gene therapy to the spinal cord, with Steven Gray, PhD UT Southwestern, as the principal investigator. Lori was able to translate to human trials in a fraction of time it typically takes industry.

A brighter future with more treatments and cures for all types of CMT.  

  • The Genesis Project collects, stores and analyzes patient registry, GRIN, CMT genomic data through their ongoing research study. This will empower GRIN to become the data hub of choice for clinical trials in CMT  
  • Support for patients that have not obtained a definitive diagnosis through genetic testing and for those interested in having personal Whole Genome Sequencing
  • Gain more insight into the genes and experience of different symptoms and onsets associated with genomics and functionality
  • Identify more secondary genes that may be CMT disease causing and modify the onset and severity of symptoms in families
  • GRIN data will be made available to CMT stakeholders
  • This is an opportunity for the best scientists globally to participate in solving the genetic diagnostic riddles of CMT and work towards therapies

Donate: http://weblink.donorperfect.com/GeneTherapy

GRIN connects with The Genesis Platform to accelerate a better understanding of patient’s genomics to advance gene therapy research and for recruitment in clinical trials.

Learn more on this topic

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HNFpharnext recently entered into a partnership with the French biopharmaceutical company, Pharnext, to help raise awareness of Charcot-Marie-Tooth (CMT) disease and support the CMT patient community through several initiatives. Building awareness is key! Pharnext’s support will assist HNF in distributing HNF’s CMT Update quarterly newsletter, enhancing the Global Registry for Inherited Neuropathies (GRIN), setting up activities for CMT September Awareness Month in the US and strengthening the CMT Inspire Community.

Quality of Life and CMT Research

Did you know that 95% of clinical trials fail? There are multiple causes, most related to efficacy or safety, which obviously can be harmful and risky for patients. The risk-reward of enrolling in trials is a judgment call based on the devastating effects of disease related to quality of life (QoL) or life-threatening disease. With CMT, the risk-reward is more of a challenging question for many, as CMT in most cases is non-fatal.

Help us answer questions that your doctors and the CMT Research Community aren’t too sure about.

Did you know that you can become part of a community in therapy development and further research for all forms of CMT and inherited neuropathies? The mission of the Global Registry for Inherited neuropathies (GRIN) is to collect clinical and genetic information from patients with ALL forms of Charcot-Marie-Tooth (CMT) and other related rare and ultra rare inherited neuropathies.

Hot off the press

It seems like almost weekly there is another new publication on CMT with interesting basic biology. While an earlier “Hot off the press” highlighted the work of Cherry and co-workers at the University of Texas Southwestern Medical Center who showed show that neurons lacking a gene for rab7 result in neuropathy.

New Study on CMT Type 2B

If we are to learn more about CMT and the effectiveness of rehabilitation it is worth asking the patient and their caregiver. A recent Italian study by Padua et al recently described a survey of CMT patients and caregivers and their perspectives and perceptions of rehabilitation efficacy and needs.

Allison Moore is going to be published!

HNF’s CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with Allison Moore and her two “fighter Mom” friends Lori Sames and Jill Wood. He named his blog: “Rare disease heroes – Extraordinary collaborators we should be listening too.” Sean helped my friends and I write a paper called: “Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery.” YES, Allison Moore is going to be published! It will be in Drug Discovery Today, soon. The link to the reprint is below.

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