News
![Congratulations Lab graduates Congratulations to the 2024 Lochmuller Lab graduates, Emily Freeman and Catherine Choueiri.](https://lochmullerlab.org/files/Congratulations-Lab-graduates.webp)
Congratulations to the Lab’s Recent Graduates!
Congratulations Dr. Emily Freeman and Catherine Choueiri on graduating from PhD and MSc programs at the University of Ottawa this past June!
![Hanns Lochmuller - DOM researcher prize 1200x900px 32 (LL website) Congratulations Dr Hanns Lochmuller, Department of medicine researcher of the year 2024. Photo of Hanns and lab members receiving the award.](https://lochmullerlab.org/files/Hanns-Lochmuller-DOM-researcher-prize-1200x900px-32-LL-website.webp)
Dr. Hanns Lochmüller Awarded “Researcher of the Year” by University of Ottawa and The Ottawa Hospital Department of Medicine
We are delighted to announce that Hanns is this year’s winner of the Researcher of the Year award conferred by the University of Ottawa/The Ottawa Hospital Department of Medicine.
![Lochmuller Lab - new publication, loss of desmin expression New Publication: Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects](https://lochmullerlab.org/files/Lochmuller-Lab-new-publication-loss-of-desmin-expression-1024x768.webp)
New Publication: Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
In a new study, “Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects” published recently in the journal Neuromuscular Disorders, we identified a recurrent homozygous intronic variant in DES as causative in three previously unsolved limb-girdle CMS (LG-CMS) patients from India.
![Hiring - Clinical Research Coordiator We are hiring a new clinical research coordinator!](https://lochmullerlab.org/files/Hiring-Clinical-Research-Coordiator.webp)
Lochmüller Research Group Hiring Clinical Trial Coordinator
Due to recent funding success and expansion of our clinical trials team we have a need for a highly motivated Research Coordinator that will assist with research studies in children and adults with neuromuscular diseases.
![argenx-cms-naturalhistorystudy First participant screened in global CMS natural history study](https://lochmullerlab.org/files/argenx-cms-naturalhistorystudy.webp)
The Ottawa Neuromuscular Centre screens first participant in the world for a multinational congenital myasthenic syndrome natural history study
The neuromuscular centre at The Ottawa Hospital is excited to announce that we are the first site globally to screen a participant for the multinational Natural history study in participants with DOK7 congenital myasthenic syndromes (CMS), sponsored by Argenx.
![Copy of Lochmuller Lab - PhD opportunity (LLab) Copy of Lochmuller Lab - PhD opportunity (LLab)](https://lochmullerlab.org/files/Copy-of-Lochmuller-Lab-PhD-opportunity-LLab.webp)
Lochmüller Lab seeking PhD student
The Lochmüller Research Group are seeking a highly motivated PhD student to join our team. The project, part of the recently funded Brain-Heart Initiative at uOttawa, will involve working with advanced cell models to perform drug screens, biomarker studies, and mechanistic investigations into Myotonic Dystrophy Type 1 (DM1).
![Lochmuller Lab - new publication, biphosphonate review New Publication - Leading global expert in DMD and bone health Dr. Leanne Ward publishes systematic review and grading of evidence for biphosphonate therapy in glucocorticoid-treated patients with Duchenne Muscular Dystrophy in Neurology, with Dr. Hanns Lochmüller as a co-author.](https://lochmullerlab.org/files/Lochmuller-Lab-new-publication-biphosphonate-review-1.webp)
New Publication: Bisphosphonates in Glucocorticoid-Treated Patients with Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence
Leading global expert in Duchenne Muscular Dystrophy (DMD) and bone health Dr. Leanne Ward publishes systematic review and grading of evidence for bisphosphonate therapy in glucocorticoid-treated patients with DMD in Neurology, with Dr. Hanns Lochmüller as a co-author.
![Lochmuller Lab - new clinical trial opportunities text reding new clinical trial opportunities](https://lochmullerlab.org/files/Lochmuller-Lab-new-clinical-trial-opportunities-1024x768.jpg)
New Clinical Trial Opportunities for Children and Adults in Ottawa
Our clinical research team is excited to share five new clinical trials activated across both pediatric and adult sites in Ottawa
![Andreas Roos - emerging myologist prize 1200x900px 32 (LL website) Dr. Andreas Roos receiving award on WMS 2023 stage, with text reading Congratulaions Dr. Andreas Roos, WMS President's Prize for Emerging Myologist of the Year 2023.](https://lochmullerlab.org/files/Andreas-Roos-emerging-myologist-prize-1200x900px-32-LL-website-1024x768.jpg)
Dr. Andreas Roos wins Emerging Myologist of the Year Prize at WMS 2023
We are excited to congratulate Dr. Andreas Roos on winning the World Muscle Society’s (WMS) President’s Prize for Emerging Myologist of the Year!
![compressed_20230909_190528268 Lochmüller Lab members gather for a group photo at the Ottawa NMD poster session.](https://lochmullerlab.org/files/compressed_20230909_190528268-1024x768.jpg)
Lochmüller Lab at Ottawa NMD 2023
Ottawa NMD 2023 was well-attended by Lochmüller Lab members, with many of our trainees and lab members presenting abstracts during the poster sessions.
![CMSgenefrequency Figure from CMS study showing frequency of CMS-causing genes.](https://lochmullerlab.org/files/FigureD_CMSgenefrequency-1024x768.jpg)
New Publication: Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
New publication from Kiran Polavarapu and Hanns Lochmüller identifying and genetically characterising the largest-ever Indian cohort of congenital myasthenic syndrome patients published in BRAIN: a journal of neurology.
![PXL_20230804_170932604.MP The ProdGNE consortium posing in front of building.](https://lochmullerlab.org/files/PXL_20230804_170932604.MP_-1024x768.jpg)
Europe comes to Canada as Lochmüller Lab hosts the annual meeting of the ProDGNE consortium
This August we welcomed our international colleagues of the ProDGNE consortium to Ottawa as we hosted the annual meeting the three-year transnational pre-clinical research project.
![K_OCONNOR_model_pic K_OCONNOR_model_pic](https://lochmullerlab.org/files/K_OCONNOR_model_pic-1024x768.jpg)
New Publication: Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects is now available in BRAIN: a journal of neurology. The publication is authored by associated scientist Andreas Roos together with Kaela O’Connor and Hanns Lochmüller.
![xr:d:DAFmd0iKQEo:9,j:7891826583529976397,t:23062115 xr:d:DAFmd0iKQEo:9,j:7891826583529976397,t:23062115](https://lochmullerlab.org/files/Grant-Funding-Announcement_4x3-1024x768.jpg)
NMD4C Receives Network Grant from CIHR-IMHA and Funding from MDC
We are excited to share that The Neuromuscular Disease Network for Canada (NMD4C) has received a network grant from the Canadian Institutes of Health Research – Institute of Musculoskeletal Health and Arthritis (CIHR-IMHA), providing funding of $200 000 per year for five years – with matched funding from Muscular Dystrophy Canada (MDC) – to strengthen the care,…
![Congratulations recent funding award recipients Congratulations to the four funding award recipients!](https://lochmullerlab.org/files/Congratulations-recent-funding-award-recipients.jpg)
Four Research Lab Members Receive Funding Awards
We are excited to share that four of our research team members have received competitive funding awards to support their projects. We are proud of all our talented and dedicated team members and delighted to share details of the successful awards here.