Single HIBM Patient Treated
July 25, 2023
Gregory Nemunaitis, John Nemunaitis and colleagues from the Mary Crowley Cancer Research Centers in Texas have reported the first and only example of a single
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GNE Myopathy (aka Hereditary Inclusion Body Myopathy or HIBM) is an ultra rare genetic disorder that affects roughly 1 in 5 million individuals worldwide.
Patients with GNE Myopathy suffer from progressive muscle weakness and unfortunately become wheelchair bound as the disease progresses. HIBM is highly prevalent in the Iranian Jewish community, with almost 1 in 10 individuals having a single copy of the mutated gene known as M712T (or M743T).
GNE Myopathy is an autosomal recessive disease, meaning two copies of the mutated gene must be present in order for the symptoms to manifest. Married couples who are both asymptomatic carriers have a 75% chance of passing the defective gene to one of their children.
Research
We are collaborating with some of the world’s leading experts in order to streamline and advance the most cutting edge discoveries from the laboratory to the clinic.
A decade ago if someone talked about inserting a gene into a human cell, or removing and correcting a single mistake in our DNA with surgical precision, most scientists would have laughed. What was science fiction then is reality now.
Join us on this journey and follow our progress as we continue to update the community with our latest developments and success stories.
Johns Hopkins University School of Medicine Researchers spearheaded by Dr. Greg Newby are the recipients of a multi-year grant from Solve GNE.
Using latest-generation CRISPR tools – base editors and prime editors – the team will attempt to directly correct the genetic mutation in laboratory models.
Collaborations
Dr. John Day
Stanford
Dr. John Day
Professor of Neurology
Dr. Natalia Gomez-Ospina
Stanford
Dr. Natalia Gomez-Ospina
Assistant Professor of Pediatrics
Dr. Fraser Wright
Stanford
Dr. Fraser Wright
Professor of Pediatrics
Dr. Gregory Newby
Johns Hopkins
Dr. Gregory Newby
Assistant Professor of Genetic Medicine
Dr. Paul Martin
Genosera &
Nationwide Children's Hospital
Dr. Paul Martin
Professor of Pediatrics
Dr. Gidon Akler
Genosera &
Tovana Health
Dr. Gidon Akler
Medical Geneticist
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Advancing a new therapy through human clinical trials is a complex, expensive and time consuming process that involves the coordinated efforts of patients and their families, physicians, scientists and federal officials.
This mountain may seem tall and out of reach but it’s certainly not impossible to summit.
With careful planning and proper funding we CAN find a path forward and thanks to the latest advances in molecular biology, we can reach our goal in a reasonably short period of time.
Blogs
Dr. Paul Martin
July 25, 2023
Dr. Paul Martin and colleagues at Nationwide Childrens Hospital in Ohio have been exploring a novel approach to treating GNE myopathy using a bicistronic vector
Prof. Stella Mitrani-Rosenbaum
July 25, 2023
Professor Stella Mitrani-Rosenbaum from Hadassah University Medical Center is a leading international expert in GNE Myopathy and has published extensively on the topic. Read more