The 9th Rare Disease Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses and novel therapeutics.
9th Rare Disease Summer School
Kartause Ittingen , W arth
July 4th to 7th 20 23
PROGRAM
The program is subject to change without notice.
Please refer to the Summer School website for updates.
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TUESDAY , JULY 4th 2023
13 :00 – 14:00 ARRIVAL OF THE PARTI CIPANTS AND REGISTRA TION
14:00 – 14:30 Welcome and introduction round , Prof. Matthias Baumgartner
14:30 – 15:15 Prof. Nine Knoers, Department of Genetics, University Medical Center
Groningen, the Netherlands
Latest developments in exome and genome seque ncing: impact for
rare diseases
15:1 5 – 15:4 5 COFFEE BREAK
15:45 – 16:30 Dr. Jasmin Barman -Aksözen, Scientific advisor, Swiss society for
porphyria, Switzerland
Let the sunshine in! Development, approval and benefit assessment
of afamelanotide, the first drug for treating erythropoietic
protoporphyria.
16:30 – 17:30 Oral presentations by selected participants
17:30 – 18:30 Check -in time
18:30 – 20:00 DINNER
20:00 – Poster viewing
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WEDNES DAY, JULY 5th 20 23
07: 45 – 08: 45 BREAKFAST
08:45 – 09:30 Prof. Marshall Summar, Children ‘ s National Medical Center, George
Washington University, USA
Rare diseases today
09: 30 – 10: 15 Prof. Stephan Neuhauss, Department of Molecular Science,
University of Zurich, Switzerland
Studying rare diseases in the (not so rare) Zebrafish model
organism
10: 15 – 10:45 COFFEE BREAK
10:45 – 12: 15 Prof. Nine Knoers, Department of Genetics, University Medical Center
Groningen, the Netherlands
W orkshop: Next generation sequencing
12: 15 – 13: 45 LUNCH
13: 45 – 14: 30 Prof. Andrew Dwy er, Boston College, USA
Person -centred approaches for bridging health disparities for
rare disease patients
14:30 – 15:15 Dr. Fabienne Hartmann -Fritsch , University of Zurich, CUTISS AG ,
Switzerland
Regulatory framework for ATMPs on the basis of a case study
15: 15 – 15: 45 COFFEE BREAK
15: 45 – 16:30 Dr. Paul Bastard , Imagine Institute Paris, France
Keynote Lecture: From rare to more frequent causes of severe
viral diseases: genetics and auto -immunity
16: 30 – 17:45 Networking/Free time
17:45 – 18:30 Visit to the Kartause Museum
18: 30 – 20 :00 DINNER
20:00 – Poster viewing
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THURSDAY, JULY 6th 2023
07: 45 – 08: 45 BREAKFAST
08:45 – 10 :15 Dr. Jürg Streuli, Institute of Biomedical Ethics, University of Zurich ,
Switzerland
Interactive workshop: Ethical considerations (case study)
10: 15 – 10:45 COFFEE BREAK
10:45 – 11:30 Prof. Elvir Becirovic, Ophthalmology, University Hospital Zurich,
Switzerland
Treatment of inherited retinal diseases: chances and obstacles
11:30 – 12:30 Oral presentations by selected participants
12: 30 – 14:00 LUNCH
14:00 – 14:45 Prof. Olivier Devuyst, Institute of Physiology , University of Zurich ,
Switzerland
Genetic architecture driving therapeutic targets in kidney
diseases
14: 45 – 15: 30 Dr. Isaac Canal s, Department of Experimental Medical Science, Lund
University, Sweden
iPSC and genome editing as tools to generate human in vitro
models of neuronopathic lysosomal storage disorders
15: 30 – 16:00 COFFEE BREAK
16:00 – 17: 30 Prof. Marshall Summar, Children‘s National Medical Center, George
Washington University, USA
Workshop: Designing rare disease clinical tria ls
17: 30 – 18 :30 Free time
18 :30 – 21:00 GRILL
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FRIDAY, JULY 7 th 2023
07: 45 – 08: 45 BREAKFAST
08:45 – 09 :30 Take -home messages by participants
09 :30 – 10:15 Prof. G ünter Schwarz , University of Co logne, Germany
Regulatory approval of a first treatment for the ultra -rare
molybdenum cofactor deficiency
10:15 – 10:45 COFFEE BREAK
10 :45 – 11:30 Dr. Jama Nateqi, Symptoma GmbH, Austria
How to find (misdiagnosed) rare disease patients in hospitals –
an AI -based approach
11:30 – 12:15
Hansruedi Silberschmidt , patient with rare disease
Coughing prohibited – living with a rare disease
12:15 – 12:30 Award of poster prizes and concluding remarks
12:30 END OF THE SUMMER SC HOOL AND DEPARTURE O F THE
PARTICIPANTS
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SPEAKER ( in alphabetical order )
DR. JASMIN BARMAN -AK SÖZEN
Jasmin Barman -Aksözen is a patient with the ultra -rare inborn error of
metabolism erythropoietic protoporphyria (EPP). She studied molecular
biology and biochemistry at the University of Heidelberg and obtained
her PhD and Venia Legendi from the University of Zurich. Her resea rch
topics cover basic science and drug development in EPP and related
diseases (porphyrias), as well as aspects concerning the regulatory
assessment and benefit evaluation of orphan drugs. During her PhD,
she was involved in the development of the first d rug for treating EPP
and later became a patient representative for the respective approval
proceedings at the European Medicines Agency. To promote access to
therapy for all patients with EPP and other porphyrias, she co -founded
the International Porphyria Patient Network, a group of dedicated patient
advocates with a professional background in science, medicine, and
other relevant expertise. She is working at the Institute for Laboratory
Medicine at the Municipal Hospital Zurich, which is the Swiss Referen ce
Center for the Porphyrias, and is currently studying health economics
and methods of health technology assessment at the University of
Applied Sciences in W interthur.
DR. PAUL BASTARD
Paul Bastard, MD -PhD, is currently working as a fellow in the Pediatric
Hematology and Immunology department of Necker Hospital for Sick
Children (AP -HP, Paris, France), while also doing research in the
Necker branch of the laboratory of Jean -Laurent Casanova, which is
located at the Imagine Institute (University of Paris and INSERM) and
the Rockefeller University (New York, USA). His research currently
focuses on the genetic and immunological determinants of severe viral
diseases, including the causes and consequences of autoantibodies
against type I interferons.
PROF. ELVIR BECIROVIC
Elvir Becirovic studied biology at the University of Cologne from 2001 –
2006. He received his PhD at the Ludwig -Maximilians -University of
Munich in 2 010 . He then taught and conducted research there as a
postdoctoral fellow and, since 2014, as a junior research group leader
on the pathophysiology of retinal diseases. In 2016, he was enrolled as
a postdoctoral fellow and completed the habilitation process in 2019.
Since 2016, his research focus has been on gene therapy of retinal
diseases. In June 2022, he was appointed Assistant Professor of
Experimental and Translational Ophthalmology at the University of
Zurich. In addition to his academic activities, he works as Chief
Technology Advisor for ViGeneron GmbH and has several patents as
lead inv entor.
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DR. ISAAC CANALS
Isaac Canals studied biology at University of Barcelona and graduated
in 2006. He received his PhD in Genetics in 2015 by the University of
Barcelona on a work on Sanfilippo syndrome, a rare lysosomal storage
disorder in which he generated novel iPSC -derived cellular models.
During his postdoctoral training at Lund University, he specialized in
neuroscience and develop a method to differentiate iPSCs towards
astrocytes, technology that he combined with genome editing and
methods to generate neurons for modeling neurodegenerative
disorders. He established his own research group in 2021 at Lund
University and will be moving to the University Children’s Hospital of
Zurich in 2023. The aim of his research is to generate different iPS C-
based 2D and 3D in vitro models to understand disease mechanisms of
lysosomal storage disorders, the contribution of different brain cells to
the pathology and what are the neurodevelopmental impairments in
patients, as well as to develop new therapeutic approaches based on
genome editing technologies.
PROF. OLIVIER DEVUYS T
Olivier Devuyst, M.D., Ph.D., graduated from UCLouvain Medical School
in Brussels (Belgium) and trained at the Technion Institute (Haifa, Israel)
and the Johns Hopkins Medical School (Baltimore, USA). He is Full
Professor at the University of Zurich, where he co -chairs the University
priority program on rare diseases and has a joint clinical appointment at
Saint -Luc Academic Hospital, UCLouvain. Devuyst and his group use a
multi -level approach to investigate the mechanisms of epithelial
transport and the genetic architecture of kidney diseases, paving the
way for novel therapeutic approaches. In parallel, they demonstrated
fundamental mechanisms of osmosis and the crucial role of water
channels (aquaporins) in dialysis. O. Devuyst has published more than
300 original studies, cited >43,000 times (H -index, 93). He served as
President and Board Member in the Belgian and Swiss societies of
nephrology, coordinated several EU -funded research networks and
established the W orking Group on Inherited Kidney Disorders of the
European Renal Association and the Swiss Societ y for Nephrology.
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PROF. ANDREW DWYER
Andrew Dwyer is a board -certified Family Nurse Practitioner with 20+
years of experience in endocrinology and translational research at the
Massachusetts General Hospital (MGH) in Boston and the University
Hospital of Lausanne (CHUV) in Switzerland. Currently, he is an
Assistant Professor of nursing at Boston College and investigator in the
MGH -Harvard Center for Reproductive Medicine. His clinical focus is
male reproductive endocrinology, rare disorders of growth/puberty and
transitional care. He has worked in interprofessional research teams,
has authored/co -authored >100 articles , and serves on the
Massachusetts Rare Disease Advisory Board. Dr. Dwyer is an NIH –
funded researcher who utilizes patient engagem ent and digital solutions
to develop person -centered approaches to care and overcome genomic
health disparities .
DR. FABIENNE HARTMAN N-FRITSCH
Fabienne Hartmann -Fritsch received her MSc in Microbiology and
Immunology from the ETH Zurich in 2008 and her PhD in Biology from
the University of Zurich in 2013. During her postdoctoral studies at the
Tissue Biology Research Unit of the University Children’s Hospital
Zurich, Dr. Hartmann -Fritsch specialized on GMP -production of human
skin grafts as well as on c linical trial management and regulatory affairs.
In 2017, she co -founded the UZH spin -off company CUTISS AG, with
the vision to provide patients who suffer from large and deep skin defects
with the first personalized and automated skin tissue therapy that is safe,
effective, and accessible for children and adults .
PROF. NINE KNOERS
Nine Knoers is the chair of the Department of Genetics at the University
Medical Centre Groningen, The Netherlands. She received her M.D.
(1986) and Ph.D. (cum laude, 1990) from the Catholic University
Nijmegen, The Netherlands. She was trained and certified as Clini cal
Geneticist at the Radboud University Medical Centre Nijmegen. From
2011 until 2018, she was chair of the Department of Genetics at the
University Medical Centre Utrecht, The Netherlands. Her major research
effort focuses on the identification and furth er characterization of genes
for inherited renal disorders and on their pathophysiology. The ultimate
aim of her studies is to find clues for treatments for these disorders. Prof.
Knoers is member of several European Consortia on genetic renal
disorders an d coordinated the Dutch Scientific Consortium on renal
ciliopathies “Kouncil”. She has published over 280 scientific papers and
in the last 10 years delivered >250 invited lectures.
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DR. JAMA NATEQI
Jama Nateqi is a medical doctor and founder of Symptom a.com, a digital
health assistant. Patients and doctors enter symptoms, answer
questions and receive a list of possible causes – sorted by probability.
Symptoma is the most used symptom checker with 10 million
users/month. Jama founded his first company in 1999, studied medicine
in Austria and performed research for his thesis at the Yale University.
In 2020 he was named Austrian of the Year for his 16 years of research
at Symptoma.
PROF. STEPHAN NEUHAUSS
Stephan Neuhauss studied biology in Tübingen (D) and Eugene
(Oregon, USA) doing his graduate work at Harvard Medical School
(Massachussetts General Hospital). He then returned to Europe for a
postdoctoral fellowship to the Max -Planck Institute for Developmental
Biology (Tübingen) before accepting a senior lecture ship of the ETH
Zurich at the Brain Research Institute. After stints as an assistant
professor at the ETH, he become associate and later full professor at
the Department of Molecular Life Sciences of the University of Zurich.
He is also Vice -Dean for Research at the Faculty of Science and an
editor of various open access journals .
PROF. G ÜNTER SCHWARZ
Günter Schwarz graduated his studies in Plant Biology and Biochemistry
and habilitated Venia legendi in Biochemistry and Molecular Biology at
the Technic al University of Braunschweig (TU), Germany .
He is full Professor (W3) for Biochemistry at the University of Cologne,
Germany. He and his team are interested to understand protein
structure -function rel ations in different biological processes ranging from
basic metabolism to molecular neuroscience. Their research is based
on a variety of methods including molecular biology, protein
biochemistry, enzymology, structural biology (protein crystallography),
cell biology, bioinorganic chemistry and biotechnology.
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DR. JÜRG STREULI
Jürg Streuli is head of the Pediatric Palliative and Advanced Care Team
at the Children’s Hospital of Easter Switzerland, Senior Researcher and
Research group leader for Pediatric Bioethics at th e Institute of
Biomedical Ethics at the University of Zuric h. Dr. Streuli studied
medicine (state examination 2005) and specialized in pediatric and
adolescent medicine at the Triemli City Hospital (2006 -2008) and at the
University Children’s Hospital Zuri ch (2012 -2015). In 2014, he obtained
his doctoral degree in biomedical ethics and law from the University of
Zurich . In his research and clinical work, Dr. Streuli aims to assess,
develop and support integrated and universal health care services that
enabl es both local accessibility for support and management, and
access to specialist services for the care of complex medical conditions.
HANSRUEDI SILBERSCHM IDT
Hansruedi Silberschmidt is a patient with the primary ciliary dyskinesia
(PCD) . From the first day of his life he had health problems (several
respiratory arrests, infections). Many hospital stays followed during his
childhood . In his autobiography «husten verboten» (coughing
prohibited), he describes his life as a child and young adu lt with an
undiagnosed disease and his path of suffering until he was finally
diagnosed at the age of 39 at the University Hospital in Zurich.
He completed the teacher training and studied psychology at the IAP,
Zurich. He worked as the executive director of andante Winterthur – a
non -profit, social enterprise for the benefit of people with a cognitive
and/or cerebral impairment as well as for people with a brain injury.
PROF. MARSHALL SUMMA R
Marshall Summar is the Director of the Rare Disease Institute, and Chief
of the Division of Genetics and Metabolism at the Children’s National
Hospital in W ashington . Prof. Summar received his MD degree from the
University of Tennessee, completed a residency and internship in
pediatrics and medical/ biochem ical gene tics at Vanderbilt University.
He is board -certified in pediatrics, clinical genetics and medical
biochemical genetics. His research is focused on devices and
treatments for patients with genetic and biochemical diseases and
adapting knowledge fro m rare diseases to mainstream medicine. His
work has resulted in new drugs undergoing Food and Drug
Administration (FDA) trials for patients with congenital heart disease and
organic acidemias. Clinically, he launched, and leads the first clinical
Rare Dis ease Institute (RDI) at Children’s National Hospital. He is
involved in the WHO’s effort to globally expand care and diagnosis for
rare disease patients and in public policy around rare diseases and
orphan drug development in the U.S.
Lieu de déroulement: