Code : 9345-339929      Created Date : Sunday, August 10, 2014   Update Date : Sunday, August 10, 2014    Visit : 2128

European Human Genetics Conference 2013

The report of European Human Genetics Conference 2013 by Dr. Javad Tavakkoly Bazzaz

 

Application Code :
306-0114-0051
 
Created Date : Monday, March 17, 2014 10:56:40Update Date : Saturday, June 21, 2014 15:42:42IP Address :194.225.51.101
Submit Date : Saturday, June 21, 2014 15:42:52Email : tavakkolybazzazj@tums.ac.ir
Personal Information
Name : Javad
Surname : Tavakkoly Bazzaz
School/Research center : School of Medicine
If you choose other, please name your Research center :  
Possition : Assistant professor
Tel : +98-21-88953005
E-mail : tavakkolybazzazj@tums.ac.ir
Information of Congress
Title of the Congress : European Human Genetics Conference 2013
Title of your Abstract : Genetic analysis of gonadal disorders of sex development (46, XY
DSD) by cytogenetic and molecular methods
country : France
From : Saturday, June 08, 2013
To : Tuesday, June 11, 2013
Abstract(Please copy/paste the abstract send to the congress) : Among disorders of sex development (DSD) which result from abnormalities during gonadal determination and differentiation, there are especially rare forms such as 46, XY gonadal dysgenesis with mutations in SRY, NR5A1, DHH, DAX1 and WNT4 genes. Mutations of known genes are responsible
for only a few percentages of these disorders and there are probably some other potential genes or loci that play a role in sexual disorders that are waiting for further analysis.
We recruited patients that were clinically suspicious for 46, XY gonadal dysgenesis. Cytogenetic analysis as well as the direct sequencing of the SRY, NR5A1and DHH genes was performed for all cases. MLPA technique was
used to detect deletions and duplications in DAX1 and WNT4 genes and subsequent imbalances were confirmed by real time PCR. Additionally, other potential loci were investigated by whole genome Array CGH method.
One new chromosomal rearrangement and SRY deletion was found in one and five patients, respectively. Two heterozygous partial deletion and duplication were present in NR5A1 and WNT4 genes. Array CGH results confirmed the chromosomal rearrangement data and one partial deletion were
detected in the SOX2OT gene.
Autosomal chromosome abnormalities could play a role in DSD. SRY gene deletion has a significant role in DSD and has a similar incidence in our patients
compared with other reports. Del/dup mutations found to be more
common than point mutations in our patients and might be preferred to check Del/dup mutations prior to point mutations. SOX2OT might have a potential role in gonadal dysgenesis.
Keywords of your Abstract : DSD, Cytogenetic, 46XY
Acceptance Letter : http://gsia.tums.ac.ir/images/UserFiles/17281/Forms/306/Tavakkoly. Acceptance ESHG 2013_1.pdf
The presentation : Poster
The Cover of Abstract book : http://gsia.tums.ac.ir/images/UserFiles/17281/Forms/306/ESHG 2013.Cover of Abstract book_1.docx
Published abstract in the abstract book with the related code : http://gsia.tums.ac.ir/images/UserFiles/17281/Forms/306/Abstract Tavakkoly.ESHG 2013_1.docx
Where has your abstract been indexed? : ISI
If you choose other, please name :  
   
The Congress Reporting Form
How many volunteers were present at the Congress? : About 6000
Delegates from which countries presented in the congress? : Mainly from EU zone, but delegates from US, Canada, Middle East and far East had also attended.
Were the delegates of any other organizations present in the congress? : No
If yes, please write the names of the organizations in the box :  
What were the responses to your talking points? Were specific questions or concerns raised? : There were some questions about the commonness and regulations of the genetic tests in Iran, in particular for PND and the policies of the health system in this issues.
If you met staff members, please list their full names & positions. : Alexandre Reymond, Switzerland, Mike Snyder, United States
Please inform us if there are any follow up actions we need to talk with the members of the congress : No, actually there is no need to take further actiona as the process of attendance has been accoplished last year.
No, actually there is no need to take further actiona as the process of attendance has been accoplished last year.
No, actually there is no need to take further actiona as the process of attendance has been accoplished last year.
Your experiences about the travel processes(Providing ticket, accommodation,...) : It is a very time consuming process. It takes a lot of work to arrange for tickets, visa, accomodations. The most difficult one is to book your accommodations while you don't have a international bank card to make your reservation via hotel online system.
Please give a briefing of your own observations and outcomes of the congress: : Attendance in such meetings would update us about the recent progress and achievements in the medical genetics field, as there are substantial development in this field of bioscience. 
The attendance of Iranian colleagues to these congresses are not proportionate to the extent of their numbers and activities in Iran and such under-represention, which is mainly due to financial concernes, may harm the impact of Iran at international level.
In addition, it is so crucial to take supportive measures to encourage post graduate students to participate in these events.
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