PhD Viva Success

We are delighted to announce the success of one of Hanns’s UK students. Emily O’Connor, jointly supervised by Hanns and Professor Clarke Slater, successfully defended her thesis work this week and will be awarded a PhD from Newcastle University following submission of minor corrections. Emily was awarded her PhD for her thesis entitled “The role of MYO9A at the neuromuscular junction”. This research was possible due to the generosity of Kindness for Kids and AFM-Telethon. You can read some of her publications here. We look forward to welcoming Emily to Ottawa to take up a position in the Lochmüller lab.

Emily relaxing post-viva.

 

Emily_Oconnor15

Read next...

New Publication: Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

We were pleased to collaborate with colleagues in the UK, India, Germany, and Spain on this brief communication reporting three…

Conference Announcement: MITO2019 in Toronto 8-9th Nov

MITO2019 is the annual meeting for mitoNET and the MitoCanada Foundation and serves as the main education & networking event…

A new arrival accompanied by a new publication

The Lochmüller lab is pleased to welcome Dr. Emily O’Connor to the group in Ottawa. Emily marked her arrival in…

New Publication: Analysis of the functional capacity outcome measures for myotonic dystrophy

Being able to accurately and reliably asses functional capacity in people with myotonic dystrophy type 1 (DM1) is paramount to…

Foundation grant success for the Lochmüller Lab!

We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD) has been funded…

New publication: De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Patients with long-term, complex conditions like neuromuscular diseases may receive diagnosis, care and treatment in several different centres, each of…

New publication: Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

How can we use phenotypic descriptions to aid genetic diagnosis starting with hundreds of rare variants from next-generation sequencing results?…