UK Event: Queen Square Advances in Mitochondrial Medicine, 16 July 2019

#QSmitoadvances2019 Queen Square Advances in Mitochondrial Medicine 2019, Tuesday 16th July, 9.00am – 5pm. One day course providing an update on Queen Square NHS England Rare Mitochondrial Disorders Service, with an emphasis on clinical cases, service development and clinical trials.

900-0915: Welcome: Prof Mike Hanna

DIAGNOSTICS AND 100K GENOMES PROJECT - Chair: Prof Mike Hanna

0915-0940: Mitochondrial histopathology service: Dr Rahul Phadke
0940-1005: Mitochondrial biochemistry service: Dr Amanda Lam
1005-1030: Mitochondrial genetics service: Dr Robyn Labrum
1030-1055: 100K Genomes Project: results and beyond: Dr Arianna Tucci
1055-1110: Panel discussion __________________________________________________________________
NO LIVE STREAM AVAILABLE
1110-1130: COFFEE

CLINICAL CHALLENGES AND TRANSITION - Chair: Dr Ros Quinlivan
1130-1155: Paediatric mitochondrial diseases: clinical and diagnostic challenges: Prof Robert McFarland
1155-1220: Adult mitochondrial diseases: clinical and diagnostic challenges: Dr Enrico Bugiardini
1220-1245: Transition service: Dr Ros Quinlivan
1245-1300: Panel discussion
1300-1400: LUNCH __________________________________________________________________
CHARITY UPDATES - Chair: Dr Rob Pitceathly
1400-1410: The Lily Foundation: Alison Maguire
1410-1420 Muscular Dystrophy UK: Elizabeth Owen

PATHOPHYSIOLOGY AND CLINICAL PHENOTYPES - Chair: Dr Rob Pitceathly
1420-1445: Pathogenic mechanisms in mitochondrial disease: beyond ATP depletion: Prof Simon Heales
1445-1510: Mitochondrial disease clinical phenotypes: what’s known and what’s new?: Dr Rob Pitceathly
1510-1525: Panel discussion
1525-1545: COFFEE

MANAGEMENT AND UK CLINICAL TRIALS - Chair: Prof Simon Heales
1545-1610: Practical management strategies for people with mitochondrial diseases: Sarah Holmes
1610-1625 Active UK-based mitochondrial disease clinical trials: Dr Rob Pitceathly
1625-1645: Panel discussion and close: Prof Mike Hanna

Live stream available at

https://www.youtube.com/watch?v=QhHBqulwl1M

(will also be available to rewatch, I believe, at the same link.

 

Interesting stuff
eta our paediatrician thought mito diseases only applied to tiny babies....