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Inherited Metabolic Diseases – From Bench to Bedside and Back Again

Professor Simon Heales and Professor Sara Mole

Friday, 10 May 2019 from 09:00 to 17:00 (BST)

Inherited Metabolic Diseases – From Bench to Bedside...

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Registration 10 May 2019 Free  

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Event Details

                                         

 

Inherited
Metabolic Disease

From Bench to Bedside &

Back Again 

A meeting to:

Mark the launch of a highly specialised NHS networked laboratory service
Showcase basic and translational research into inborn errors of metabolism
 

Including Otto Wolff Lecture

Prof Sir Doug Turnbull, University of Newcastle

Challenges of Mitochondrial Diseases

 

Programme

 

        Time

           Topic/title

         Person, affiliation

 

 

 

        From 9:00

          Refreshments

 

        9.30-12.30 

          NHS SERVICES

        Chair Prof Simon Heales

        9.30-9.35

          Metabolic Laboratory Networking -   welcome

        Prof Simon Heales

        9.35-10.00

          Mitochondria

         Amanda Lam

        10.00-10.25

          Neurotransmitters

        Simon Pope

        10.25-10.50

          Break

 

        10.50-11.15

          Lysosomal

        Derek Burke

        11.15 -11.40

          GSDs

        Ralph Wigley

        11.40-12.05

          Metabolic Profiling

        Helen Prunty

        12.05-12.15

          Translational Research    

        Simon Heales

        12.15-12.25

          NHSi - Networking

        David Wells

        12.25-13.10

          Lunch

 

        13.10-14.10

        OTTO WOLFF LECTURE

        Challenges of Mitochondrial Diseases

         Prof Sir Doug Turnbull, University of Newcastle

 

        14.10-16.30

         RESEARCH SHOWCASE

        Chair Prof Sara Mole, Head of Inborn Errors of Metabolism Section

       14.10-14.15        

         Inborn Errors of Metabolism -   welcome

        Prof Sara Mole, UCL

        14.15-14.35

        Neuromuscular disorders and     mainstreaming genomic medicine 

        Dr Emma Clement Consultant, GOSH

        14.35-14.50

        Translating Omics to the Clinic

        Dr Wendy Heywood, PI UCL

        14.50-15.20

        Neurometabolic disorders

        Dr Clara van Karnebeek, Amsterdam UMC

        15.20-15.45

        Break

 

        15.45-16.05

        Liver gene therapy

        Dr Julien Barateau, Postdoctoral Fellow UCL

        16.05-16.25

        The evolving field of human vitamin

        B6-dependent disorders

         Dr Philippa Mills, PI UCL

        16.25-16.40

        

         Developing gene therapies for

        Batten disease

        Dr Sophia kleine Holthaus, Postdoctoral Fellow UCL

        16.40

        Closing remarks

        Prof Simon Heales,Prof Sara Mole

        16.45 

         

       Reception

 

 

Do you have questions about Inherited Metabolic Diseases – From Bench to Bedside and Back Again? Contact Professor Simon Heales and Professor Sara Mole

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When & Where


UCL Great Ormond Street Institute of Child Health
Kennedy Lecture Theatre (Ground Floor), ICH
30 Guilford Street
WC1N 1EH London
United Kingdom

Friday, 10 May 2019 from 09:00 to 17:00 (BST)


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