Program

12.45 p.m.

Welcome Address

Bettina Rockenbach - Vice-Rector for Research and Innovation, University Cologne (pending)

Thomas Benzing - Chair - Center for Molecular Medicine Cologne, University Cologne

Eva Luise Köhler - Chair - Board of Trustees of the Eva Luise and Horst Köhler Foundation and patroness of the Allianz Chronischer Seltener Erkrankungen (Achse)

Arthur H M Burghes - Brunhilde Wirth - Guenter Schwarz
Scientific coordinators - Ernst Klenk Symposium 2019

Session I:
State of the art in rare disease discovery

Chair: Christian Schaaf (Institute for Human Genetics, Univ. of Cologne)

1.00 - 1.30 p.m.

Neurometabolic disease discoveries: Translating big data into better outcomes
Clara D M van Karnebeek
Department of Pediatrics and Clinical Genetics, Academic Medical Centre, University of Amsterdam -  Amsterdam NL

1.30 - 2.00 p.m.

The NIH undiagnosed diseases program: Expansion to a national and international network
William A Gahl
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute - Bethesda, US

2.00 - 2.30 p.m.

Genetic newborn population screening: Are we ready yet?
Georg F Hoffmann
Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital - Heidelberg, DE

2.30 - 3.00 p.m.

Coffee Break

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

Chair: Bernhard Schermer (Dept. II of Internal Medicine and CMMC, Univ. of Cologne)

3.00 - 3.30 p.m.

Understanding the functional effects of coding variation at scale
Lea M Starita
Department of Genome Sciences, University of Washington and Brotman Baty Institute for Precision Medicine - Seattle, US

3.30 - 4.00 p.m.

From stem cells to organoids to disease modeling
Joseph V Bonventre
Harvard Institutes of Medicine, Brigham and Women's Hospital - Boston, US

4.00 - 4.30 p.m.

Metabolomics - biomarker analysis as a functional read-out
Karlien LM Coene
Translational Metabolic Laboratory, Dept. of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center - Nijmegen, NL

4.30 - 5.00 p.m.

Coffee Break

5:00 - 8.30 p.m.

Poster Session and Welcome-Get-Together

The Klenk Poster Award 2019 of the Center for Molecular Medicine Cologne (CMMC) will be awarded to the presenting first author of the three most outstanding poster contributions. The awardees are invited to give a short presentation (10 min.) during the last session of the Klenk Symposium 2019 on Tuesday, September 17.

Session III:
Small molecule based therapy in neurological disorders

Chair: Brunhilde Wirth (Institute for Human Genetics, Univ. of Cologne)

9.00 - 9.30 a.m.

Antisense oligonucleotide based therapies for neurodegenerative diseases
Frank C Bennett
Department of Research Biology, Ionis Pharmaceuticals - Carlsbad, US

9.30 - 10.00 a.m.

Rescuing a fatal disease, Spinal Muscular Atrophy, by antisense oligonucleotide therapy
Richard S Finkel
Division of Neurology, Department of Pediatrics, Nemours Children’s Hospital - Orlando, US

10.00 - 10.15 a.m.

Coffee Break

10.15 - 10.45 a.m.

A genome-wide suppressor paradigm for drug discovery in ciliopathies
Nicholas Katsanis
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) 

10.45 - 11.15 a.m.

Antisense splicing modulation for familial dysautonomia
Adrian R Krainer
Cold Spring Harbor Laboratory - Cold Spring Harbor, US

11.15 - 11.30 a.m.

Coffee Break

Session IV:
Gene therapy to treat rare disorders

Chair: Arthur H M Burghes (The Ohio State University Wexner Medical Center - Columbus, US)

11.30 - 12.00 p.m.

AAV-mediated gene therapy in neuromuscular disease: Clinical immunology considerations
Barry J Byrne
UF Powell Gene Therapy Center, Department of Pediatrics, University of Florida - Gainesville, US

12.00 - 12.30 p.m.

Recent advances in gene therapy for Friedreich ataxia
Hélène Puccio
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) - Illkirch, FR

12.30 - 2.00 p.m.

Lunch Break (free soup and sandwiches for all participants at the venue)

Session V:
Rare kidney and endocrine disorders and therapy

Chair: Roman-Ulrich Müller (Dept. II of Internal Medicine, Univ. of Cologne)

2.00 - 2.30 p.m.

Molecular challenges in the treatment of complex genetic endocrine defects
Heiko Krude
Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin - Berlin, DE

2.30 - 3.00 p.m

Current and potential treatments for ADPKD targeting cyclic AMP signaling
Vicente E Torres
Mayo Clinic Translational Polycystic Kidney Disease (PKD) Center - Rochester, US

3.00 - 3.30 p.m

Membranous nephropathy: From molecules to disease and therapy
Pierre Ronco
Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne University, Hôpital Tenon and Université Pierre et Marie Curie - Paris, FR

3.30 - 3.50 p.m.

Coffee Break

3.50 - 4.00 p.m.

Announcement of the "Klenk Symposium Poster Award 2019"

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

Chairs: Michal-Ruth Schweiger (Translational Epigenetics and Tumor Genetics, Univ. of Cologne) and Oliver Cornely (Clinical Trials Center Cologne, Univ. of Cologne)

4.00 - 4.30 p.m.

Epigenetic signatures in the blood of patients with cancer
Michael R Speicher
Department of Internal Medicine, Institute of Human Genetics, Medical University of Graz
Graz, AT

4.30 - 5.00 p.m.

TTP: Pathogenesis and the therapeutic path
Marie Scully
Department of Haematology, University College London Hospital - London, GB

5.00 - 5.30 p.m.

Coffee Break

5.30 - 6.30 p.m.

Ernst Klenk Lecture

Laudation: Brunhilde Wirth

Spinal Muscular Atrophy from gene to treatment and the future
Arthur H M Burghes
Dept. of Biological Chemistry and Pharmacology and Dept. of Neurology, The Ohio State University Wexner Medical Center - Columbus, US

Session VII:
Metabolic disorders and therapy

Chair: Guenter Schwarz (Institute for Biochemistry, Univ. of Cologne)

9.00 - 9.30 a.m.

Complex pathogenic cascades in lysosomal disorders and their implications for therapy
Frances M Platt
Dept. of Pharmacology, University of Oxford - Oxford, GB

9.30 - 10.00 a.m.

Therapeutic enhancement of autophagy for the treatment of lysosomal storage disorders
Carmine Settembre
Telethon Institute of Genetics and Medicine (TIGEM) - Pozzuoli-Napoli, IT

10.00 - 10.30 a.m.

Short presentation
by the three poster awardees (3 x 10 min. short talks)

10.30 - 11.00 a.m.

Coffee Break

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

Chair: Jörg Dötsch (Department of Pediatrics, Univ. of Cologne)

11.00 - 11.30 a.m.

Novel treatments for osteogenesis imperfecta
Frank Rauch
Shriners Hospital for Children - Canada, McGill University - Montreal, CA

11.30 - 12.00 p.m.

Sweating matters: Can protein replacement in utero correct anhidrotic ectodermal dysplasia?
Holm Schneider
Center for Ectodermal Dysplasias, University Hospital Erlangen - Erlangen, DE

Session IX: What`s next?

12.00 - 12.30 p.m.

Affordable diagnosis and prevention of genetic disease
Sir John Burn
Institute of Genetic Medicine, Newcastle University - Newcastle upon Tyne, GB

12.30 - 12.45 p.m.

Summary, open questions, closing remarks

Arthur H M Burghes - Brunhilde Wirth - Guenter Schwarz