radiz - Rare Disease Initiative Zürich

Clinical Research Priority Program for Rare DiseasesUniversity of Zurich

6th Rare Diseases Summer School

Application form

Please complete both pages of this form and email to together with your full application no later than April9th 2018. Incomplete applications may not be considered.

  1. Personal information

First name:

Last name:

Academic title:

Currently working on a PhD / MDPhD: yes no

Employer / University:

Legi-Nr. (for student of the University of Zurich):

Research subject / subject of interest (very brief, please include details in letter of motivation):

Poster title:

Poster abstract (max. 250 words):

  1. Accommodation(please indicate your preference; subject to availability, prices may be subject to change). Accommodation is not included in the registration fee and needs to be paid in advance by participants. Meals and social activities are included in the registration fee.

Hotel:~ CHF 135 per night (incl. breakfast)

No accommodation needed

Please indicate on which days the accommodation is needed:

Tuesday, July10th Wednesday, June11th

Thursday, June12th Friday, June13th

  1. Workshop Preference(please read the workshop description first)

Please indicate your preference:

Drug development

led by Prof. Marshall Summar, Children‘s National Medical Center, George

Washington University, Washington DC, USA

Next generation sequencing

led by Prof. Nine Knoers, University Medical Centre Utrecht, the Netherlands

4. Transportation (only for participantsliving in Switzerland)

Please indicate if you have any of the following:

GA

Halbtax (Swiss half-price card)

other ZVV tickets, please indicate zones

  1. Dietary preferences

Non vegetarian

Vegetarian

Dietary or other special requirements:

Allergies:

The Summer School ends at 12:30 on Friday. Would you like to have a lunch packet (included in the registration cost) to take with you?

Yes No

  1. Payment information

Detailed payment information (including the amount due and payment deadline) will be sent after acceptance of the application. Participation is guaranteed only when the full payment of the amount dueis receivedbyMay23rd 2018.

Application checklist (please make sure you have included the following in your application):

Letter of motivation (including brief description of your project or research interest)

Short CVincluding picture

Letter of recommendation

This completed form

Please email to byApril9th 2018.

Please provide all files in a .doc (or printable PDF) format.

Thank you!

Workshop Descriptions

Drug development

Led by Prof. Marshall Summar, George Washington University

The Orphan Drugs Act is a successful model of how to incentivize the development oftreatments for rare diseases. However, the situation can still be improved to advance notonly the development of new orphan drugs and devices but also of non-orphan ones as well.In fact, with the advent of personalized medicine, the knowledge and the tools developed forrare diseases become more important to the general medical community and therefore tomany patients and families. In this workshop, case studies will be used to discuss thechallenges in drug development for rare diseases.

Next generation sequencing

Led by Prof. Nine Knoers, University Medical Centre Utrecht

Many rare diseases are caused by altered functions of single genes. For about half of them(ca. 3500), the molecular aetiology has been determined through traditional DNA sequencingtechniques that are time-consuming and not cost-effective. In the last years, newlydeveloped technologies replaced the traditional methods for whole-exome sequencing (WES)and whole-genome sequencing (WGS) with a less expensive sequencing cost perexome/genome. These advanced sequencing technologies, so-called next-generationsequencing (NGS), have changed the landscape of rare-genetic-disease research, withcausative genes being identified at an accelerating rate. However, NGS provides a wealth ofdata on genetic variation often of unknown functional consequences raising ethical issuesand highlighting the need of appropriate bioinformatics tools to address the complexity ofdata processing, analysis and interpretation. Applications of NGS and their related ethicalissues will be discussed in this workshop.

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