Speakers

Dept. of Biology and Pharmacology and Dept. of Neurology, The Ohio State University Wexner Medical Center
Columbus, US
e-mail: burghes.1[at]osu.edu
medicine.osu.edu/bcpharm/directory/faculty-directory/arthur-burghes/Pages/index.aspx

Department of Research Biology, Ionis Pharmaceuticals
Carlsbad, US
e-mail: AHakanson[at]ionisph.com
http://www.ionispharma.com/c-frank-bennett-ph-d/

Guest speaker
Session III: Small molecule based therapy in neurological disorders

Harvard Institute of Medicine, Brigham and Women's Hospital
Boston, US
e-mail: joseph_bonventre[at]hms.harvard.edu
https://bonventrelab.bwh.harvard.edu/wordpress/

Guest speaker
Session II: Technologies to understand functional impact of human variation causing rare diseases

Institute of Genetic Medicine, Newcastle University
Newcastle upon Tyne, GB
e-mail: john.burn[at]ncl.ac.uk
https://www.ncl.ac.uk/igm/staff/profile/johnburn.html#background

Guest speaker
Session VIII: Muscle, bone and dermis genetic disorders- from mechanism to treatment

UF Powell Gene Therapy Center, Department of Pediatrics, University of Florida
Gainesville, USA
e-mail: bbyrne[at]ufl.edu
https://research.pediatrics.med.ufl.edu/researchers/research-faculty/barry-byrne/

Guest speaker
Session IV: Gene therapy to treat rare disorders

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center Nijmegen, NL
e-mail: Karlien.Coene[at]radboudumc.nl
https://www.radboudumc.nl/en/research/radboud-technology-centers/mass-spectrometry/metabolomics

Guest speaker
Session II: Technologies to understand functional impact of human variation causing rare diseases

Division of Neurology, Department of Pediatrics, Nemours Children’s Hospital
Orlando, US
e-mail: richard.finkel[at]nemours.org
http://www.curesma.org/news/finkel-aan-award.html

Guest speaker
Session III: Small molecule based therapy in neurological disorders

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute
Bethesda, US
e-mail: gahlw[at]mail.nih.gov
https://www.genome.gov/10005723/

Guest speaker
Session I: State of the art in rare disease discovery

Division of Neuropediatrics and Metabolic Medicine, Univ. Children's Hospital
Heidelberg, DE
e-mail: georg.hoffmann[at]med.uni-heidelberg.de
https://www.klinikum.uni-heidelberg.de/Hoffmann.141200.0.html

Guest speaker
Session I: State of the art in rare disease discovery

Dept. of Pediatrics and Clinical Genetics, Academic Medical Centre, University of Amsterdam
Amsterdam NL
e-mail: c.d.vankarnebeek[at]amc.uva.nl
https://cmmt.ubc.ca/van-karnebeek-lab

Guest speaker
Session I: State of the art in rare disease discovery

Stanley Manne Children`s Research Institute, Northwestern University Feinberg School of Medicine - Chicago, US
former address: Center for Human Disease Modeling, Duke University Medical Center - Durham, US)  Center for Human Disease Modeling, Duke University Medical Center
Durham, US
e-mail: nicholas.katsanis[at]duke.edu
https://www.cellbio.duke.edu/nicholas-katsanis/

Guest speaker
Session III: Small molecule based therapy in neurological disorders

Cold Spring Harbor Laboratory
Cold Spring Harbor, US
e-mail: krainer[at]cshl.edu
https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/

Guest speaker
Session IV: Gene therapy to treat rare disorders

Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin
Berlin, DE
e-mail: heiko.krude[at]charite.de
https://kinder-endokrinologie.charite.de/metas/person/person/address_detail/krude-1/

Guest speaker
Session V: Rare kidney and endocrine disorders and therapy

Wellcome Trust Investigator in Science, Department of Pharmacology, University of Oxford
Oxford, GB
e-mail: frances.platt[at]pharm.ox.ac.uk
http://plattlab.nsms.ox.ac.uk/staff-member/fran-m-platt-ph-d/

Guest speaker
Session VII: Metabolic disorders and therapy

Institute of Genetics and Molecular and Cellular Biology (IGBMC)
Illkirch, FR
e-mail: helene.puccio[at]igbmc.fr
http://www.igbmc.fr/Puccio/

Guest speaker
Session IV: Gene therapy to treat rare disorders

Shriners Hospital for Children – Canada, McGill University
Montreal, CA
e-mail: frauch[at]shriners.mcgill.ca
https://www.rarediseasesnetwork.org/spotlight/v8i1/Rauch

Guest speaker
Session VIII: Muscle, bone and dermis genetic disorders - from mechanism to treatment

French National Institute of Health and Medical Research (INSERM), Sorbonne University, Hôpital Tenon and University Pierre et Marie Curie
Paris, FR
e-mail: pierreronco[at]yahoo.fr
https://www.inserm.fr/en/research-inserm/meet-our-researchers/erc-winners/pierre-ronco-world-expert-in-kidney-disease

Guest speaker
Session V: Rare kidney and endocrine disorders and therapy

Center for Ectodermal Dysplasias, University Hospital Erlangen
Erlangen, DE
e-mail: holm.schneider[at]uk-erlangen.de
http://www.zseer.uk-erlangen.de/ektodermale-dysplasien 

Guest speaker
Session VIII: Muscle, bone and dermis genetic disorders - from mechanism to treatment

Department of Haematology, University College London Hospital
London, GB
e-mail: m.scully[at]nhs.net
https://www.uclh.nhs.uk/OurServices/Consultants/Pages/DrMarieScully.aspx

Guest speaker
Session VI: Cancer and rare immune-mediated disease therapy and regulation

Telethon Institute of Genetics and Medicine (TIGEM)
Pozzuoli-Napoli, IT
e-mail: settembre[at]tigem.it
http://www.tigem.it/research/faculty/settembre

Guest speaker
Session VII: Metabolic disorders and therapy

Department of Internal Medicine, Institute of Human Genetics, Medical University of Graz
Graz, AT
e-mail: michael.speicher[at]medunigraz.at
https://www.medunigraz.at/DK_MCD/Faculty_Speicher.htm

Guest speaker
Session VI: Cancer and rare immune-mediated disease therapy and regulation

Department of Genome Sciences, University of Washington and Brotman Baty Institute for Precision Medicine
Seattle, US
e-mail: lstarita[at]uw.edu
http://staritalab.org/

Guest speaker
Session II: Technologies to understand functional impact of human variation causing rare diseases

Mayo Clinic Translational Polycystic Kidney Disease (PKD) Center
Rochester, US
e-mail: torres.vicente[at]mayo.edu
https://www.mayo.edu/research/faculty/torres-vicente-e-m-d-ph-d/bio-00077282

Guest speaker
Session V: Rare kidney and endocrine disorders and therapy