Special issue of the Journal of Neuromuscular Diseases is devoted to the Treatabolome, designed to shorten diagnosis-to-treatment time for patients with rare diseases

In 2019, as part of the European Solve-RD project, Hanns Lochmüller, Gisèle Bonne and Rachel Thompson launched the Treatabolome, an initiative designed to extract details of effective treatments for rare diseases from the scientific literature and make them accessible through an online database that aims to allow patients to receive the right treatment for their condition as soon as they receive a genetic diagnosis.

The process of extracting reliable treatment information from scientific publications begins with a systematic review of the literature for each disease area to ensure that all the published information is captured. The Lochmüller Lab’s original systematic review of congenital myasthenic syndromes provided a comprehensive overview of the treatments available for these rare but often highly treatable diseases, which are one of our lab’s main focus areas.

This month, an open-access special issue of the Journal of Neuromuscular Diseases dedicated to the Treatabolome has been published. It includes six systematic reviews contributed by experts on rare neurological disorders, summarising the literature on each disease group and linking treatments with genotype and causative variants. Thanks to the team at CNAG in Barcelona behind the RD-Connect Genome-Phenome Analysis Platform, the data is also being transformed into an online database to be launched later this summer, which is intended to reduce treatment delays for patients with rare diseases by directly linking diagnosis and treatment information.

The special issue also includes a systematic review on the metabolic myopathies from our lab with Alex Manta, Sally Spendiff, Hanns Lochmüller and Rachel Thompson as co-authors.

You can find Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’  here.

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’.
Manta A, Spendiff S, Lochmüller H, Thompson R.
J Neuromuscul Dis. 2021;8(3):401-417.
doi: 10.3233/JND-200621.
PMID: 33720849

 

Access the special issue of the Journal of Neuromuscular Diseases here.

Read the press release about the Treatabolome special issue here.

1by1treatabolome

Read next...

CIHR logo

Dr. Hanns Lochmüller, NMD4C and MDC named co-investigators on two CIHR grants awarded for research into oculopharyngeal muscular dystrophy – led by Dr C Gagnon – and into the Indirect Socio-Economic Burden of Inherited Neuromuscular Diseases – led by Dr J Warman

The Lochmüller Lab is happy to share that project applications ‘A comprehensive study of the natural history of OPMD: An essential step towards clinical trial...
https://lochmullerlab.org/files/cropped-LochmullerLab_web.jpg

Lochmüller Lab Welcomes New Students

Our lab is growing! We are excited to introduce two new students who have joined the Lochmüller Lab this fall.   Kelly Ho Kelly has...
JND8-4_announcement

Latest Issue of the Journal of Neuromuscular Diseases Now Available – July 2021

The Journal of Neuromuscular Diseases (JND) has announced the publication of a new issue of the journal!     Volume 8, Issue 4 of the JND contains a record number 30 items comprised...
meetClinicalTeam

Meet the Lochmüller Lab Clinical Team

Neuromuscular Clinic for adult patients at The Ottawa Hospital (TOH) Civic Campus As part of the team led by Dr. Jodi Warman Chardon, Hanns sees...
ProDGNE RGB-01

ProDGNE: Research Project to Develop an Innovative Therapeutic Compound to Treat GNE Myopathy

The Lochmüller Lab is proud to share its involvement in ProDGNE , a three-year transnational pre-clinical research project which aims to develop an innovative therapeutic...
Neuromuscular junction and animal models

Meet the lab’s two new members

Our lab is growing! We are excited to introduce two new members who have joined the Lochmüller lab this winter. Daniel O'Neil Daniel holds a...