annual report 2014 - NCL

ANNUAL REPORT 2014
of the charitable NCL Foundation
TRAINING | RESEARCH | FUNDING | FUNDRAISING
TRAINING
Towards a future without childhood dementia
Dementia is a disease that does not only
affect adults but children as well. The
childhood dementia NCL (Neuronal Ceroid
Lipofuscinosis) is a genetic metabolic disease that causes a gradual degeneration
of retinal and nerve cells. Body and mind
of affected children gradually degenerate.
The first symptom of this fatal disease is the
complete loss of vision, usually at pre-school
age. Following that, children affected by NCL
increasingly forget things they have learned
and gradually lose the ability to speak, to
walk and to act.
In addition, they also suffer epileptic seizures.
As teenagers, at the latest, they become dependent on a wheelchair and eventually they
will lose their fight against NCL at the age of
25 to 30.
With about 700-800 cases in Germany, NCL
is a rare disease and hardly known, which
makes diagnosis and developing a treatment
extremely difficult. So far, there is no means
of curing NCL.
NCL is the most common form of childhood dementia.
The NCL Foundation
In 2002, Tim was diagnosed with the fatal childhood dementia NCL. Due to the lack of research
and the fact that little is known about NCL, Tim‘s
father, Dr. Frank Husemann, founded the NCL
Foundation within the same year. Now, 12 years
later, the targeted funding of research projects
to develop a treatment for NCL remains to be the
foundation‘s main purpose and objective.
To that end, the NCL Foundation aims to obtain
the necessary research funds and to raise awareness of NCL. For a long time, the NCL Foundation
has been co-operating with the German NCL
family group „NCL-Gruppe Deutschland e.V.“
and it is an extraordinary member of ACHSE
(Allianz Chronisch Seltener Erkrankungen), an
alliance for rare chronic diseases.
Up to now, the NCL Foundation has made first
steps towards achieving its goal – a future without childhood dementia. However, research is
a lengthy and cost-intensive process that can
only be continued with the help of numerous
donators, supporters and sponsors. The DZI
Spendensiegel ensures that all donations are
handled with care and responsibility.
The NCL Foundation‘s Training Initiatives in 2014
For rare diseases such as NCL, raising awareness is of vital importance. As in previous years, we have therefore conducted several training activities for
doctors, researchers, students, pupils and the general public.
OPHTHALMOLOGISTS
¡Lecture in St. Gallen: 200 Swiss ophthalmologists and orthoptists were informed about
NCL
¡Lecture in Düsseldorf: Ophthalmologists
and pediatricians at the University Hospital in
Düsseldorf were informed about NCL
¡Differential diagnosis poster: The poster
was distributed in 15 eye clinics in Germany,
Switzerland and Austria
¡830 explanatory leaflets for ophthalmologists were distributed in Switzerland and
Austria
PEDIATRICIANS
¡Lecture series on „Rare diseases – Handling
and new diagnostic methods“ in the context
of the 110th annual conference of the German
Society of Pediatrics and Adolescent Medicine
NEUROPEDIATRICIANS
¡40th annual conference of the German
Society for Neuropediatrics: More than 100
neuropediatricians and neurologists attended
our symposium on „Transition - the problematic
nature of juvenile neurodegenerative diseases“
RESEARCHERS
¡Lecture at the vfa: 60 participants attended the lecture on NCL at the Association of
Research-Based Pharmaceutical Companies
HIGH SCHOOL STUDENTS
¡School projects: More than 600 students at
nine schools participated in our school project
¡Comenius project: Students from eleven EU
countries learned about diagnostic methods for
heritable diseases using NCL, among others, as
an example
PUBLICATIONS
¡5 publications in renowned specialist journals have been initiated by the NCL Foundation
¡35 articles and 3 TV broadcasts reported on
NCL and NCL events, e.g. SPIEGEL ONLINE, RTL
Nord, manager magazin online
¡12th NCL Congress: international exchange
between experts on the topic „iP stem cells as a
potential model for NCL“
UNIVERSITY STUDENTS
Within the context of the Aspirin Social Award
2014, the Bayer Cares Foundation selected the
NCL Foundation‘s educational work as one of the
10 best aid and consultancy services in the
German health care sector.
¡Lecture and introduction of NCL patients:
In collaboration with an affected mother, 150
medical students in Lübeck were informed
about NCL
¡Seminar day on NCL for biology students at
the university of Luxembourg
Recognizing juvenile NCL early on
A film for the prevention of misdiagnoses
Information by the NCL Foundation
The NCL information film is a quick and contemporary means of informing doctors about NCL.
RESEARCH · FUNDING
Research strategy
Over the next few years, the NCL Foundation will focus on
select fields of research in order to accelerate the
development of new treatment strategies.
5
Marco Sardiello
Project: This year, our 5 NCL Research
Award has been awarded to Dr. Marco
Sardiello and his team. They are experts in
the field of research of lysosomal storage diseases as well as development of
innovative therapies. Now they aim to use
their experience and expertise for research
into JNCL.
Funding partners: AstraZeneca, BBDF,
Charity Dinner, Art auction
Anton Petcherski
1
th
Project: Anton was able to identify some
potential drugs for the treatment of JNCL
with positive effect profiles. These drugs
correct certain signaling pathways that
are defective in JNCL patients.
Award winner Dr. Marco
Sardiello (Houston, USA)
1
Niv Dobzinski
2. Expansion of retinal research
Supervisor: Dr. M. Ruonala, University
of Frankfurt, Prof. S. Cotman, Harvard
Medical School
Project: Niv was able to identify certain
protein transport routes in a yeast cell model that might be responsible for the typical deposits found in cells of NCL patients.
Supervisor: Prof. J. Gerst, Weizmann Institute of Science Rehovot
Funding partners: BILD-metropress-GolfCup, Charity Dinner
Funding partners: R+W Stiftung
Davide Marotta
Project: Davide was able to detect for the
first time morphological mutations of the
Golgi apparatus in NCL-affected cells and
thus proved that this cell organelle might
also play an important role in NCL.
Supervisor: Dr. S.
Mole, University
College London
1
patients
Supervisor: Prof. J. Gerst, Weizmann Institute of Science Rehovot
The NCL Foundation‘s
research investments
In order to develop an efficient therapy, the function
and significance of
the CLN3 protein,
which is defective in
children with NCL, needs to
be understood.
5
Project: Osnat identified measurable differences between cells with a CLN3-defect
and healthy cells, e.g. regarding the form
and distribution of cell organelles. Now
Osnat is examining whether the mutations
could serve as markers for testing the
effectiveness of drugs.
Fellow Niv Dobzinski
Fellow Anton Petcherski
1. Clarifying the
function of CLN3
Funding partners: 3D-Reconstruction of a
Charity Dinner
Golgi apparatus in NCL
Osnat Zontag-Cohen
The complete loss of vision is the first and very serious symptom
children with NCL experience. The retina is part of the central nervous system. Since it is a small and easily accessible area,
important insights into the brain can be
gained here.
Funding partners: BBDF, BDFA, BDSRA
5. Development of a
testing procedure
3. Identification of
overlap between NCL and other
diseases
The overall aim is to use the
knowledge gained from the
defined key research areas to
develop new testing procedures for potential substances
to treat NCL.
NCL is rare; however,
research into NCL might be
relevant for other diseases as
well. For example, there are
some similarities between
NCL and Parkinson‘s or
Alzheimer‘s disease.
4. Development of new
disease-related cell models
2010
2009
2008
2007
2006
Direct funding
Indirect funding (in co-operation with another organization)
2005
2004
0
100.000 €
200.000 €
300.000 €
400.000 €
Within the last few years, more than 2.5 million Euros of research funds have been set into motion. In
accordance with the standards of the DZI Spendensiegel, the balance sheet can be found on the
foundation‘s website under www.ncl-stiftung.de.
Retinal and nerve cells derived from human
induced pluripotent stem cells (iPS cells) and
organ models are new and promising disease
models. Today it is possible to artificially
create a genetic defect in iPS cells, and it
is now also possible to take skin cells from
patients and reprogram them to become
iPS cells. Since this means being „closer“ to
the patient, the way to the clinic becomes
shorter. A new project in the area of iPS cells
is already in planning.
4
Greg Anderson
Project: Contrary to the usually supporting function of glial cells, in
JNCL they seem to have a negative effect on nerve cells. Astrocytes,
in particular, emit substances that are harmful to neurons. Greg is
now trying to verify these results with human brain cells in order to
find new therapeutic approaches.
Supervisor: Prof. T. Langmann,
Universitätsklinik Köln
Funding partners: Ein Herz für Kinder e.V.,
Hans- und Marlies Stock-Stiftung,
Kämpgen-Stiftung, Marga und Walter
Boll-Stiftung
4
Mariana Vieira
Project: Mariana has established a
testing system for active substances that
uses NCL yeast cells. Positive hits are
simultaneously verified in patients‘ skin
cells and a zebrafish model.
Supervisor: Dr. S. Mole, University College
London
Funding partners: Auerbach Stiftung
Funding partners: Charity Dinner,
IMS Health, Art auctions
Complex of NCL nerve cells
(green) and astrocytes (red)
5
Sandra Oetjen
4
Supervisor: PD Dr. G. Hermey,
ZMNH Hamburg
5
Funding partners: AstraZeneca,
HASPA, Olympus Europa Stiftung
3
Due to the promising results, Sandra‘s
work will be continued in 2015 with
another doctoral candidate position.
Supervisor: Prof. J. Cooper, Dr. B. Williams,
King’s College London
2
Project: Sandra detected a new interaction of the NCL protein CLN3
with another membrane protein which is part of a complex that
cleaves certain proteins. This cleavage process is necessary for several cell functions and is associated with other neurodegenerative
diseases. CLN3 or a defective CLN3 might therefore also influence
those diseases.
2013
2011
Projekt: In the context of a preclinical
study, the doctoral candidate Katharina
Dannhausen will test the effectiveness of
an eye immunotherapy in NCL models. In
addition, she is looking into the differentiation of iPS cells to microglia (immune
system cells).
Fellow Mariana Vieira
Huge numbers of models exist in basic research. However, their
suitability for drug testing is rarely taken into consideration.
Therefore, we are increasingly initiating projects that focus on the
development of new disease-related human cell models.
2014
2012
Prof. Thomas Langmann
Supervisor:
Dorit und Alexander Otto Stiftung
Fellow Sandra Oetjen
FUNDRAISING
Highlights 2014
JANUARY
Donating at Hamburg Airport – Travelers
wishing to donate can now use our new NCL
donation box at Hamburg Airport.
FEBRUARY
11th Charity Art Auction „Life Artists“ –
In attendance of 150 invited guests, auctioneer
Joseph Weber and host
Birgit Saatrübe (Charity
Conception) charmingly
auctioned off high-class
works of art. The highlight of this year: a piece
by Jonathan Meese.
Joseph Weber,
MARCH
Charity concert by district school Blankenese
– The charity concert, organized by senior
students, is only one example among the
many great activities by Hamburg students in
the context of our Learning Partnership.
2nd „Thriller Cup“ in Münster – For the second
time, more than 100 participants, together
with our ambassador Jan Josef Liefers, played
golf for the NCL Foundation at the Golfclub
Münster Wilkinghege, among others Werner
Schulze-Erdel, Bernd Stelter, Ross Antony
and many other members of the EAGLES Golf
Club.
© Thomas Meyer
1st Charity Dinner „Cooking for Kids“ in Düsseldorf – Under the patronage of Mayor Dirk
Elbers, more than 50 guests, amongst others
the former coach of the German national
football team Berti Vogts and the actors Nina
Vorbrodt and Thomas Held, were part of the
first exclusive charity dinner in Düsseldorf.
The initiators of the 2nd „Thriller Cup“,
© Joachim Busch.
11th Hamburg Media Cup – Representatives
of Hamburg‘s media scene met at the Golf
Club Walddörfer to take part in a special golf
tournament, collecting money for the NCL
Foundation. The event was organized by
Stiftung STERN – Hilfe für Menschen e.V. and
RTL‘s Aktion MENSCHENSKINDER.
JULY
Berti Vogts and Steve Waite,
© Colin Vennes Photography
APRIL
Purchase by auction what you cannot buy
– At United Charity, participants were able
to purchase by auction a Meet & Greet with
the comedian Ralf Schmitz, private dancing
lessons with the winner of Let‘s Dance Melissa
Ortiz-Gomez, an exclusive meeting with the
band Revolverheld, a jersey of handball player
Jens Bechtloff (TBV Lemgo), an authentic
Romero Britto work of art and many more for
the benefit of the NCL Foundation.
9th NCL-Golf-Trophy – Under the patronage of
Adendorf‘s mayor Thomas Maack and the Lower Saxony Minister of the Interior and Sports,
Boris Pistorius, golfers met for the ninth time
at Castanea Resort Adendorf to play golf for a
future without childhood dementia. Among
others, the group of players included the actor
Gerry Hungbauer and sports journalist Dr.
Martin Wilhelmi.
JUNE
E-Plus Soccer Cup – At the tournament in Düsseldorf initiated by E-Plus, soccer fans played
for the benefit of the NCL Foundation.
Marriott Dom – With games such as High
striker and others, the
Hamburg Marriott
Hotel provided lots
of fun in the heart of
Hamburg. The raffle
proceeds were donated
to the NCL Foundation
and Caritas.
Joss Stone visiting the NCL Foundation – At
the end of August, the internationally known
soul singer Joss Stone visited the NCL Foundation – her only visit to a charity organization
in Germany –,
spent a day with
affected children
and their families
and obtained
information about
NCL research in a
laboratory.
Tim and Joss Stone
SEPTEMBER
7th Vintage Car Festival – Thanks to the support
of the Old Table 300,
more than 60 vintage
cars made the hearts
of car lovers race
in the park of the
Randel Restaurant.
For children, a bouncy
castle and a magician
provided fun and
Magician Horsch
entertainment.
OCTOBER
Restaurant event „Cooking for Kids“ – Towards
the end of the year,
14 restaurants across
Germany offered an NCL
meal. For each meal sold
a small amount was donated to the NCL Foundation. Patron of the
event was once again TV
chef Ralf Zacherl.
Ralf Zacherl, © Silit
ROBINSON – Dr. Frank Husemann presented
the Robinson Club Kalimera Kriti in Crete
with a certificate
honoring their
support. Thanks to
many wonderful
sponsors, we are
able to regularly
auction off special
vouchers and
prizes.
Presentation of the certificate
NOVEMBER
Participant in the NCL-Golf-Trophy
AUGUST
Golf tournament of the Round Table 4 – Arne
Hansen and the RT4 members excelled themselves with the organization of an exclusive
golf tournament for more than 70 participants
at the Golf Club Pinnau. The highlight of the
day: a competition with a helicopter ride as
first prize.
2nd Town & Country Foundation Award – In the
context of the 2nd Town & Country Foundation Award, the NCL Foundation was declared
winner for the Federal State of Hamburg.
DECEMBER
Advent Reading with Jo Brauner – On the
second Sunday in Advent, the former news
anchor Jo Brauner was reading Christmas
stories in Ansgar Church. The collection was
given to the foundation Alzheimer Gesellschaft
Hamburg and the NCL Foundation.
CONTACT
DONATION ACCOUNT
NCL Foundation
NCL Foundation
IBAN: DE50 20050550 1059223030
BIC: HASPDEHHXXX
(Hamburger Sparkasse)
Holstenwall 10
20355 Hamburg
T: +49 (0) 40 696 66 74-0
F: +49 (0) 40 696 66 74-69
E: [email protected]
For donations of EUR 200 or more we will send you a
receipt deductible for tax purposes. We therefore request
you to state your name and address in the purpose field
of the bank transfer form.
www.ncl-stiftung.de
www.ncl-foundation.com
HONORARY SUPERVISORY BOARD
Numerous sponsors and voluntary helpers have once again supported the NCL
Foundation in 2014. Concerts, fundraising activities, sports events and many
other projects help make NCL known and promote NCL research. We would like to
thank all active, loyal and new supporters for their help. (extract):
Martin
Hartleif
Dr. Frank
Husemann
Dr. Christian
Borchard
Alexander
Rößler
Dr. Rainer
Kuhn
(Finances)
(Chair)
(Taxes)
(Legal)
(Research)
FOUNDATION OFFICE TEAM
Tiziana Serio
Dr. Frank Stehr
Tanja Stern
Dr. Herman v. d. Putten*
(Education, Fundraising)
(Chair)
(Event management)
(Head of Research)
T: +49 (0) 40 - 69 666 74-28 T: +49 (0) 40 - 69 666 74-11
M: +49 (0) 177 - 24 63 758
M: +49 (0) 178 - 341 60 57
[email protected] [email protected]
T: +49 (0) 40 - 69 666 74-31
T: +41 (0) 61 - 42 10 637
M: +49 (0) 163 - 51 09 785
M: +49 (0) 163 - 7 38 30 83
[email protected] [email protected]
HONORARY SCIENTIFIC ADVISORY BOARD
a&c Druck und Verlag • A. Behrens & G. Felsch • Airweddings • Alarmzentrale
Hamburg • Anno 1900 & Shooters • arielgrafik • Art Consulting • Atelier Rohlfs •
Barkassen-Meyer Touristik • Bartels druckt • Baseler Hof • Batten Research Fonds •
BECKOFFICE • Best Western Böttcherhof • Best Western Hotel Hamburg International • Best Western Sonnenhof • Bilderwerk Hamburg • Brinkmann Messebau •
Buchbinder • Budnianer Hilfe • Car Fit • Chã Chã Restaurants • Charlotte Heinke •
Christian Brinkmann • Clef Creative Communications • Colin Vennes • Comedia
MDS IT • Das Lichtspielhaus • Design Hotels • dgroup • die kleine konditorei • DIE
ZEIT • Dominic Packulat • Dr. Marc Sven Loose • Druckerei der Stiftung Scheuern •
Edeka Struve • Eichhorn Solutions • FAZ • Feinwerk Catering • Fiete Deichgraph •
Fillet of Soul • Flug Gastroservice • Fontenay • Freya Matthiesen • Friends of Britain
e.V. • Galerie Eigen+Art • Galerie Mensing • GET AHEAD • gibbins european architects • GlaxoSmithKline • Golf Lounge • Gruner+Jahr • Gunther Abt • Hamburger
Abendblatt • hajduga. Gestaltung & Konzeption • HanseRent • Happy Hollywood •
Heinrich Reichhardt • Hemmersbach Druck • Hogan Lovells • International INTAX •
Intervox • Iris-Alexandra Hass • Jens Goethel Galerie • Jet Set Promotion • Jimdo •
Jürgen Joost • Karosechs • Kirsten Nijhof • Kleine und Jockers • KPMG Wirtschaftsprüfungsgesellschaft • Kreativkonfekt • Kunsthaus an der Alster • Kusch Mietmöbel •
L´Oréal • Labor Lademannbogen • LC 17 Heidelberg • LEO Clubs • Madison Hotel
Hamburg • Markus Brügge photography • Marley´s Restaurant • Mensadrei •
MeridianSpa • Messebau Brinkmann • Michael Sauter • Michels Blumen • Miniatur
Wunderland • Mondo Agit • Monster Worldwide Deutschland • Multicolor • Multiple BoxHamburg • Netlead • nettprint • NWZ • Oliver Lindemann • Philippi Design •
Phoenix Reisen • Platinum Oliver Rolf • Praxis Michael Schürmann • Prima Quartett •
PROMECON • Restaurant 26 • Restaurant Del • Restaurant Engel • Restaurant Filini •
Restaurant Kleinhuis´ • Restaurant Lenz • Restaurant Okzident • REWE • Robinson
Club Schlanitzen Alm • Rotaract Dortmund • Rotaract Lüneburg • Rotary Club
Bargteheide • Round Table 1 • Round Table 22 • Round Table 70 • Round Table
Deutschland • Satis&fy • Scharlau • Senatorin Cornelia Prüfer-Storcks • Senatorin
Dr. Dorothee Stapelfeldt • Sense Events • Serenaders • Speakers Excellence • Springer BioBackwerk • Stepstone • Studio Hamburg • Swarovski • Telefónica • TEREG
Gebäudedienste • Thole Rotermund Kunsthandel • Thon Buchhandel • tolingo •
Tom Thomsen • Union Investment • Vacanceselect Reisen • Vier Jahreszeiten Hamburg • Volkan Baydar • Weingut Freiherr von Gleichenstein • WEMPE • ZAG Media •
Zodwa Selele • Zur Kloster-Mühle …
* The research position is supported by the
Auerbach Foundation, which has been supporting
the NCL Foundation for many years.
Translated from German into English by Sylvia
Lass within the initiative PerMondo. Sponsored
by Mondo Agit offering translations from German
into English.
Prof. Dr. Dr. Robert
Steinfeld
Prof. Dr. Beverly
Davidson
Prof. Dr. Rudolf
Martini
(University Clinic Göttingen)
(Children‘s Hospital of Philadelphia)
(University of Würzburg)
The printing and the compilation of the annual
report have been entirely sponsored by Max
Siemen printers and the design agency sternklar.
Many thanks!