Beverly Hills Non-Profit NDF Leads the Way in Finding A Cure for Rare Genetic Disease GNE Myopathy (GNEM)

gne myopathy rare disease

If you’ve never heard the term “GNE Myopathy,” or “GNEM” before, you aren’t alone. For decades, this very rare disease that exists in races and nationalities worldwide, and has elevated carrier rates in certain populations of the Middle East, Eastern Europe and Asia, has wreaked absolute havoc in the lives of its patients, while going largely unknown to the rest of the world’s unaffected population (including genetic carriers).

GNEM is what’s known as an autosomal recessive genetic disease. It’s a late-onset condition that typically presents in patients’ late twenties, and manifests through difficult-to-diagnose symptoms such as “foot drop” (difficulty lifting the front part of the foot. If you have foot drop, the front of your foot might drag on the ground when you walk), that disrupt patients’ ordinary daily activities, such as jogging or climbing stairs.

The condition progressively worsens over time, deteriorating the muscle tissues in the body, and in its advanced stage, ultimately confines patients to wheelchairs.

Within the small international circle of those aware of this disease, a few fundamental questions have persistently circulated: Why is this disease so hard to diagnose? And what is the cure? Many GNE Myopathy patients suffer through years of faulty diagnoses and well-intended medical misdirection before their doctors finally learn of this rare disease and pinpoint its markers, prolonging their patients’ lack of access to suitable treatments for pain management.

Likewise, those who stand a higher risk of being carriers of the genetic abnormality that results in children inheriting the condition, continue to go unscreened, due to a lack of public awareness about this life-impacting disease. Until now, there has been no reasonable anticipation of a cure for GNEM on the horizon, despite multiple clinical trials and dedicated medical research.

But a non-profit in Beverly Hills, California that was founded on the mission of enhancing the quality of lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure, has in one fell swoop, smartly put in motion the path to a cure.

Earlier this month, the Neuromuscular Disease Foundation (NDF) announced that they will move forward with a two-year plan to reach the human dosing phase of a new drug and related clinical trial.


What Is NDF?

NDF is a global leader in critical research focused on treatments and a cure for GNEM. This year NDF has funded more studies than ever before, totaling over $700,000, all of which will help fulfill the necessary steps for gene therapy, the most promising method of treatment being investigated for this and other rare diseases. The nonprofit has now made swift and smart progress in its drug development process, by taking two major steps.

First, NDF onboarded two world-renowned scientific experts in rare neuromuscular diseases, Doctor Angela Lek, and rare disease expert Rich Horgan.

Secondly, NDF established a strategic partnership with Charles River Laboratories, known for its expertise in expediting the path to IND (Investigational New Drug Application) and subsequent clinical trials.


Who Will Lead NDF’s Path to a Cure?

Dr. Angela Lek, Associate Research Scientist at Yale University’s School of Medicine, and a part of Yale’s LEK LAB has been appointed to be NDF’s next Scientific Director and will coordinate NDF’s continued work with its impressive global consortium of scientists. Dr. Lek has been part of the NDF team since 2017, having served as a scientific consultant. She is the recipient of many prestigious fellowships and awards from the Muscular Dystrophy Association, the Hood Foundation and the American Australian Association.

NDF has also brought in Rich Horgan as a special consultant tasked with guiding its gene therapy process. Horgan is the founder and president of Cure Rare Disease, a nonprofit biotech that develops custom-made drugs. He was named in Forbes’ “30 Under 30 to Watch,” and has been working on a Crispr-based therapy for his brother Terry, who has Duchenne muscular dystrophy.

His experience as the founder of Cure Rare Disease, with the biopharmaceutical industry, and his passion for transforming the paradigm of rare disease drug development, makes him uniquely qualified to help NDF as it accelerates in making dosing patients a reality. Rich received his MBA from Harvard Business School, where he was a recipient of the Blavatnick Fellowship in Life Science Entrepreneurship.

Lastly, NDF put the final nail in the coffin of GNEM’s longstanding victory over cure research, by strategically partnering with Charles River Laboratories International, a Biotech and contract research organization (CRO).

Charles River Labs is well recognized in the scientific and pharmaceutical research community for specializing in the preclinical and clinical laboratory, gene therapy and cell therapy services for the Pharmaceutical, Medical Device, and Biotechnology industries.

By bringing Charles River Labs into its drug development process, NDF will gain access to its extensive reach in the drug discovery and safety fields, to accelerate its progress toward a GNEM cure. This partnership positions NDF optimally to successfully navigate this exciting next phase of its scientific progress.

When asked about the ambitious 24-month plan that NDF has set forth to deliver a GNEM cure, Doctor Lek said “We at NDF are excited to embark on a partnership with regulatory and translational experts at Charles River Laboratories to expedite the development and testing of gene therapies for GNE myopathy.”

GNEM patients and their families around the world are joyfully breathing a sigh of relief at this amazing news, and NDF’s ambition in fulfilling its promise to find a cure. If you or someone you know has been affected by GNEM or another neuromuscular disease, NDF provides support resources for patients and their families, including information about screening centers, scientific symposiums, and the largest support group in the world for patients.


Hello reader, I'm Abhishek Shankhwar, a passionate health enthusiast and a digital marketer by profession. As a health and wellness writer, I feel obligated to inform, inspire, and reach out to so many people. In the meantime, you'll always find me reading books, writing inspiring content, and cooking delicious food. Connect with me on LinkedIn.

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