Research

MORC2-Related Disorder (M2RD also known as CMT2Z, DIGFAN, SMA-like disorder and Cockayne Syndrome) is currently believed to be an ultra-rare condition, meaning the number of global patients are fewer than <1/50,000 people [1]. The first case of M2RD was only discovered in 1994 [2] but with increased access to whole exome and whole genome sequencing, it is likely that M2RD is significantly underdiagnosed and misdiagnosed, particularly in adults, many of whom have never had access to genetic testing. Due to the very small number of patients who have participated in research to date, the current medical and scientific understanding of M2RD remains limited.

Participating in research is key to helping scientists and healthcare professionals understand how best to treat M2RD. Firstly, there is a need to understand how patients with M2RD change over time by simply observing them. Second, we must better understand how individual M2RD mutations (called point mutations) on the MORC2 gene cause different symptoms in different people. No two patients with M2RD are exactly alike and how each patient’s individual point mutation on the MORC2 gene informs their unique symptom profile is currently unknown. When scientists and healthcare professionals learn more about the similarities and differences between patients with M2RD, they can begin to find patterns in how the disorder works and then discover how best to treat it. 

MORCure posts contacts for research groups who are currently focusing on M2RD. MORCure does not currently fund research for patients and families. As a part of our mission to drive treatments and improve the lives of MORC2-Related Disorder patients, MORCure strongly advocates, supports and networks with the research community. We encourage families who support and patients who live with M2RD to explore whether research participation may be right for them.

  1. Smith, C. E., Bergman, P., & Hagey, D. W. (2022). Estimating the number of diseases–the concept of rare, ultra-rare, and hyper-rare. Iscience, 25(8).

  2. Frith, J. A., McLeod, J. G., Nicholson, G. A., & Yang, F. (1994). Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred. Journal of Neurology, Neurosurgery & Psychiatry, 57(11), 1343-1346