RNA phenotyping in inherited optic neuropathies

Study code

Lead researcher
Patrick Yu Wai Man

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area
Genomics and Rare Diseases


In this project we will use the NIHR BioResource’s RNA sequencing pipeline to study patients, recruited to study NBR-150, with inherited forms of blindness caused by damage to the optic nerve, which sends visual information from the eye to the brain.

The patients were recalled from the Inherited Optic Neuropathies (ION) and Rare Inherited Neurological Diseases (IND) cohorts at the Rare Diseases BioResource.

Inherited optic neuropathies are an important cause of blindness in children and young adults. There are currently limited treatment options. Some patients with inherited optic neuropathies have a confirmed genetic diagnosis. The two largest groups are patients with Leber hereditary optic neuropathy (LHON) and patients with autosomal dominant optic atrophy (DOA). However, there is also a large group of patients for whom no genetic cause has been found yet. RNA-sequencing is a powerful tool which looks at the different genes that are being ‘read’ and expressed in different cells. This could help us find new disease-causing genes and reach a genetic diagnosis.

The severity of visual loss can vary widely between patients with inherited optic neuropathies, even within the same family, and we still do not know why that is. We hope to detect RNA “signatures” that will give us clues as to what influences disease severity. This is essential for more accurate genetic counselling and to provide the best care to patients with inherited optic neuropathies.

The patients were recalled from the Inherited Optic Neuropathies (ION) and Rare Inherited Neurological Diseases (IND) cohorts at the Rare Diseases BioResource. Each participating study in the project is included in a collection hosted on our main studies page.