Alicia Bienkowski
12. apr. 2024
Congratulations to Jevin Parmar who learned yesterday that his peer-reviewed article was accepted in the Journal of Neurology, Neurosurgery and Psychiatry.
Figure titled: Strategies to tackle “The Final Frontier” for the molecular diagnosis of inherited peripheral neuropathies.
Congratulations to Jevin Parmar who learned yesterday that his peer-reviewed article was accepted in the Journal of Neurology, Neurosurgery and Psychiatry.
The article is titled The Genetics of Inherited Peripheral Neuropathies and the Next Frontier: Looking Backwards to Progress Forwards.
Authors: Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gina Ravenscroft.
Impact factor 11.1
Jevin explains his paper here:
Inherited peripheral neuropathies (IPNs) are a group of rare inherited diseases affecting the peripheral nervous system with a wide range of symptoms, clinical severity and causes. Disease-causing variants in over 100 genes have been associated with IPN, with over 70 of these being associated with IPN in only the last 10 years. Despite the increase of reported disease-associated genes through diagnostics, improved bioinformatic analyses, and functional studies, around 50% of patients with IPN remain genetically unsolved. This review explores the evolving genetic landscape of IPNs over the last ten years, including identification of disease-causing variants in novel genes and novel variant types that cause IPN. By extrapolating from challenges overcome to the challenges that still remain, we provide an outline for tackling the “The Final Frontier” of the missing genetics of IPNs, enabling a path towards accurate genetic diagnoses for the many families with IPN still to be solved.
The article includes the commissioned artwork (pictured above)s.