WELLCOME TRUST: Istanbul Meeting, 22nd-25th Oct, 2017

Genetic modifiers in the repeat expansion disorders: Common mechanisms and therapeutics 

DAY1: Monday, October 23rd, 2017 VENUE: SUMAHAN HOTEL 

 

MORNING SESSION 

 

9.45 am-10:00 amWelcome address

10.00-11.00 am Henry Houlden: Aim of the ataxia project and experiences from previous studies 

11.00 am-12.00 pm Henry Houlden (for Sao Bettencourt): The optimal preparation of blood and DNA samples for delivery 

12.00-1.00 pm Georg Auburger: The Cuban samples: Their infrastructure, pedigrees and the extent of sample recruitment in 1995 

1.00 pm LUNCH at Sumahan Hotel 

 

AFTERNOON SESSION

 

2.00- 3.00 pm Suzana Gispert: Preparation of available blood/ DNA samples and phenotypes at present. 

3.00 - 4.00 pm A. Nazli Basak, Asli Gundogdu: Introduction to NDAL; laboratory setup and sample recruitment; preparation of blood and DNA samples ( Nazli-Asli) 

4.00- 5.30 pm Sibel Ertan, Ece Kaya and Atay Vural: How to design and implement a practical algorithmic approach in the diagnosis of ataxia patients in Turkey? Suggestions from the perspective of a clinician (Sibel and Ece); State of phenotype compilation (Atay) 

5.30- 6.30 pm All participants: Discussion and wrapping up the day 

 

-----------------------------  

DAY 2: Tuesday, Oct. 24th, 2017; VENUE: NDAL, BOGAZICI UNIVERSITY

 

MORNING SESSION

10.00am-12.00 pm All participants: Sample preparation at NDAL, practical issues and brainstorming 

12.00-13.00 Nesli Ece Şen:  The effect  of ATXN2-polyQ-expansions for axon-myelin interaction.

   Julia Canet- Pons:  The effect of ATXN2-polyQ-expansions on RNA-binding-proteins such as TDP-43.

 

AFTERNOON SESSION

 

2 Patient evaluations ( henry Houlden, Georg Auburger, Atay Vural) 

 

PARTICIPANTS 

University College London: Prof. Henry Houlden

Goethe Univ., Medical School.: Dr. Suzana Gispert, Prof. Georg Auburger, PhD student Nesli Ece Sen, PhD student Julia Canet-Pons, MSc.

Cerrahpasa Univ., Med School.: Prof. Sibel Ertan and Dr. Ece Kaya 

Koc Univ.: Prof.  Yasemin Özdemir, Dr. Özgür Öztop Çakmak, Dr. Atay Vural

Bogazici Univ.: Prof. A. Nazlı Başak, Dr. Suna Lahut, PhD stud. Ceren Tunca, senior technical assistant Aslı Gündoğdu MSc, technical assistant Irmak Şahbaz BSc, Irmak Türkoğlu, MBA; Kemal Solylu; med stud. Osman Çorbalı and İlknur Yıldız, personal assistant to ANB