26th November 2019: The group of AcceleRare partner Maurizio Molinari at the IRB Bellinzona has dissected the mechanisms of cell recovery from acute stresses elicited by drug exposure or by the accumulation of defective proteins. Insights in these molecular mechanisms is highly relevant to advance drug discovery for rare diseases, and the present study contributes to the identification of new markers and therapeutic targets. Read the paper in Nature Communications.
19th November 2019: From 11-14 March 2020, the International Congress of Research on Rare and Orphan Diseases will be held in Berlin. Register before the 30th of November to benefit from the early registration fee. AcceleRare partner Professor Gisou van der Goot will be among the speakers.
15th November 2019: Realizing a dream for patients with cystic fibrosis The CFTR gene coding for cystic fibrosis, one of the most common lethal genetic disorder, was discovered in 1989. Following that milestone, a burst of academic research characterized the function of the mutant CFTR channel and the mechanisms of disease. A patient organization, the Cystic Fibrosis Foundation, supported these efforts all the way and teamed with a small biotech company to develop a set of compounds able to correct the functional defects of the mutant protein. After a decade of efforts, the combination of three of these drugs has yielded spectacular benefits for cystic fibrosis patients harboring the most common mutation in two randomized clinical trials – simultaneously published in the New England Journal of Medicine and the Lancet. These results mean that a safe and effective treatment can now be offered to more than 90% of patients with cystic fibrosis. Yes, the combination of efforts from patients and their families, academics from all horizons and small companies can be transformative – “a dream coming true” as pointed by Francis S. Collins of the NIH, who directed the consortium cloning CFTR in 1989. More information at the New England Journal of Medicine & The Lancet. The original publication can be accessed here.
2nd November 2019: Last Thursday saw the publication of positive outcomes of phase 3 clinical trials with Elexacaftor–Tezacaftor–Ivacaftor to treat cystic fibrosis. It has taken 30 years from identifying the causal mutation in the CFTR gene to developing a successful gene therapy. Although the therapy is not 100% effective and cannot treat all cases of cystic fibrosis, it represent a major success story in treating rare diseases.
With AcceleRare, we aim to increase the efficiency of drug discovery efforts in an academic setting. Hopefully, we will be able to present our success stories within 30 years from now.
31st October 2019: Professor Janine Reichenbach and her team have been recently granted support by the Wyss Centre Zurich to study a new gene therapy vector, developed at UZH. A phase I/II clinical gene therapy trial for children and young adults with a severe phagocyte immunodeficiency is planned https://www.wysszurich.uzh.ch/
21st October 2019: On the 5th of November, the Forderverein fur Kinder mit Seltenen Krankheiten presents its second Wissensbuch “Seltenen Krankheiten – Der Weg – Genetik, Alltag, Familien- und Lebensplanung“. AcceleRare partner Prof. Dr. med. Anita Rauch (Institute of Medical Genetics – University of Zurich) will present about the genetic implications of rare diseases on the affected families.
From 18:00 in Vortragssaal Kunsthaus Zürich, Heimplatz 1, Zürich (Registration required before 1st of November via firstname.lastname@example.org)
19th October 2019: Upon successful scientific evaluation by the Swiss National Science Foundation, the AcceleRare proposal has been passed on to the State secretariat for Education, Research, and Innovation for the final decision-making stage. During the coming month, a decision will be made about the projects that will receive funding as National Centers of Competence in Research. We hope that the vision and value of AcceleRare is appreciated, as the time has come to structurally address the challenges posed by rare diseases.
5th October 2019: Reserve the date. On 29th February 2020, international rare disease day, ProRaris celebrates its 10th anniversary. Stay tuned for further information about this event in Geneva.
25th September 2019: The University of Zurich and the NOMIS Foundation are announcing two lectures by exceptional scientists, Janet Currie and Antonio Rangel, on October 10, 2019. Currie is the Henry Putnam Professor of Economics and Public Affairs at Princeton University, Princeton, and Rangel is the Bing Professor of Neuroscience, Behavioral Biology, and Economics, at the California Institute of Technology (Caltech), Pasadena.
Location: University of Zurich, Aula RAA, Rämistrasse 59
09:00: Lecture by Janet Currie: Child Health as Human Capital
10:00: Coffee break
10:30: Lecture by Antonio Rangel: The Neuroeconomics of Simple Choice
The lectures will address topics – child health and complex decision making – that are highly relevant for the topics (genetic disorders, strategies for drug discovery, pricing, etc) covered by AcceleRare. Additional informations can be found at:
 http://www.uzh.ch/del/ssl-dir/adressgesuche/public/files/versandobjekte/33a85f53b01fa721b0e1fbda53d05b51/AntonioRangel.pdf Please note that registration is required (to email@example.com).
22nd September 2019: The research group from AcceleRare partner Georg von Krogh (ETHZ) has published a new paper on the organizational management of drug repurposing efforts for rare diseases. AcceleRare aims to implement such valuable insights to the benefit of rare disease research. Access the publication via the following link.
12th September 2019: A Round-Table on Rare Diseases at the EPFL AcceleRare members Gisou van der Goot (EPFL), Marco Prunotto (Roche, SAB) and Oliver Devuyst (UZH) will participate in a round table on rare diseases during the Open Doors at the EPFL , on Sunday, September 15, 2019. The debate will be moderated by Serge Michel (Heidi.news): https://www.portes-ouvertes-epfl.ch/evenement/les-maladies-rares/
4th September 2019: Helping muscle regeneration with repurposed medicines at the University of Geneva: https://www.duchenneuk.org/News/helping-muscle-regeneration-with-repurposed-medicines
31st July 2019: AcceleRare partners Prof. Gerald Schwank (ETH Zürich) and Prof. Johannes Häberle (Children’s Hospital Zürich) recently applied a novel gene editing tool to correct mutations that cause the metabolic disease Phenylketonuria. Using viral vectors to deliver the editing enzyme to the liver, they reached repair rates up to 60%, and fully reverted the phenotype of the mouse model. Their work has been published in the journal Nature Medicine. Access the article here.
25th July 2019: Funding for rare disease translation at an AcceleRare partner institution
Gain Therapeutics SA Announces Award Notification of a €1.4M Grant Support from Eurostars-2 together with the Institute for Research in Biomedicine and Neuro-Sys SAS:
18th July 2019: The end to the diagnostic odyssey
A recent report made by the Rare Diseases UK highlighted the problem of a striking lag between occurring symptoms and proper diagnosis of patients with rare diseases.
According to the report, a diagnosis can take on average 6 years during which 8 doctors are engaged in the diagnosis process. What is more, in some cases, the diagnosis remains elusive even for decades.
As you can read in the attached piece (link), knowledge about the molecular basis of an orphan disorder can catalyse chain of events that would affect the fate of the patients, their families, healthcare professionals and also researchers around the world.
Rare Diseases UK is pushing the field forward in order to find successful treatments and cures for rare diseases.
1st July 2019: Research on rare diseases often yields important information on genes and pathways operating under healthy conditions, as well as in common diseases. This concept is at the core of an extensive review by Olivier Devuyst and colleagues, just published in the prestigious journal Physiological Reviews (van der Wijst J et al.Physiol Rev 2019; 99: 1575-1653).
30th June 2019 On Sunday 21st of July 2019, the Forderverein fur Kinder mit Seltenen Krankheiten (KMSK) organizes the KMSK Zirkus Erlebnis. On this day, healthy siblings (aged 6-16 years old) of children with rare diseases will prepare and perform a show for their siblings, parents, and grandparents. Joy for all guaranteed! More information and registration via the events section of the KMSK website.
27th June 2019 Last week, we announced that AcceleRare has been shortlisted by the Swiss National Science Foundation (SNSF) after a thorough 1,5-year selection procedure for the 5th round for Swiss National Centers of Competence in Research. This means that AcceleRare fulfills all required academic criteria, addresses an urgent societal need, and shows the potential for great scientific breakthroughs. During the coming months, the SNSF will visit the host institutes (for AcceleRare that is the University of Zurich, with ETH Zurich and University of Geneva as co-leading hosts). After a final assessment by the State Secretariat for Education, Research and Innovation (SERI), the final decision will be made in Autumn 2019 by the Federal Department of Economic Affairs, Education and Research.
24th June 2019 The research group of AcceleRare partner Prof. Dr. Jean-Christophe Leroux published an article on nanoparticle-delivery of nucleic acids. Such safe delivery of DNA has been a major bottleneck for gene therapy. With AcceleRare, we strive to further develop such state-of-the-art methods and bring them rapidly towards the clinic for the treatment of rare diseases.
19th June 2019 AcceleRare is still in the running to become a National Center of Competence in Research. After further assessments by external experts and an interview at the Swiss National Science Foundation, we have made it to the next stage in the selection procedure. The AcceleRare team is thankful for the positive response to our research program, and we are further strengthened in our belief that the time has come to structurally advance drug discovery for rare diseases. Want to know more and get involved? Contact us for more information!
7th June 2019 Drug discovery is a multidisciplinary effort that involves experts from diverse scientific fields, which need to communicate clearly with each other. Effective knowledge creation requires both formal and informal organisational structures and practices. With Professor Georg von Krogh and his team from ETH Zurich, AcceleRare will investigate and address strategic management aspects to improve academic drug discovery for rare diseases. Read more about their work in a recent paper about drug discovery in pharmaceutical industry.
1st of March 2019 Today it is international rare disease day, with which we would like to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. AcceleRare collaborates with ProRaris, the Swiss alliance for rare diseases, which will host several events.
22nd February 2019 The Swiss Federal Office of Public Health published an overview of projects and measures that have been undertaken since the publication of the National Rare Disease Policy in 2014. Although some progress has been made, there remains a lot to do. With AcceleRare, we aim for structural solutions in the field of rare disease research.
24th January 2019 The 7th RADIZ Rare Diseases Summer School will be be held from 10-12 July 2019 in Kartause Ittingen, Warth (Switzerland). Through lectures, workshops, poster sessions, and oral presentation, it will address a wide variety of subjects related to rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. More information and registration here.
23rd November 2018 AcceleRare Partner Prof. Dr. Matthias Baumgartner from the Kinderspital Zurich investigates rare metabolic disorders. His work on Andrin’s disease was featured in the UZH news. Read the article.
10th October 2018 The Drug Discovery Network Zurich (DDNZ) organizes a symposium on ‘Academic Drug Discovery for Rare Diseases’. The program focuses on how cutting-edge technologies in basic research can be exploited to serve unmet medical needs of rare disease patients. More information and registration via the DDNZ website.