Code : 9822-339924      Created Date : Sunday, August 10, 2014   Update Date : Sunday, August 10, 2014    Visit : 2132

European Society of Human Genetics 2014

The report of European Society of Human Genetics 2014 by Mr. Mohammad Saberi

 

Application Code :
306-0114-0047
 
Created Date : Tuesday, June 10, 2014 09:38:09Update Date : Saturday, June 21, 2014 08:08:05IP Address :95.38.193.235
Submit Date : Saturday, June 21, 2014 08:08:58Email : medicalgenetics.saberi@gmail.com
Personal Information
Name : Mohammad
Surname : Saberi
School/Research center : other
If you choose other, please name your Research center : Department of Medical Genetics
Possition : student
Tel : +98-21-22228817
E-mail : medicalgenetics.saberi@gmail.com
Information of Congress
Title of the Congress : European Society of Human Genetics 2014
Title of your Abstract : Prenatal Diagnosis of Aneuploidy by Cell Free Fetal DNA in Maternal Plasma
country : Italy
From : Saturday, May 31, 2014
To : Tuesday, June 03, 2014
Abstract(Please copy/paste the abstract send to the congress) : Prenatal Diagnosis of Aneuploidy by Cell Free Fetal DNA in Maternal Plasma


Author Block M. Saberi1, M. Akbari2;
1Tehran University of Medical Sciences, Tehran, Iran, Islamic Republic of, 2Tarbiat Modares University, Tehran, Iran, Islamic Republic of.

Abstract:
This study examined the methylation difference in AIRE and RASSF1A between maternal and fetal DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma and amniotic fluid samples were collected from 30 singleton pregnancies. Methylation-sensitive restriction enzymes in digestion of differential maternal-fetal methylation followed by fluorescent quantitative PCR (MSRE + PCR) were employed to detect trisomy 21. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A that are hypermethylated in maternal plasma and are not digested with methylation sensitive restriction enzymes. All of the results were approved with karyotype results. Based on the data from 22 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 30 pregnancies. Firstly, 18 from 22 euploidy pregnancies were detected euploid correctly and 4 cases incorrectly so the early sensitivity rate was 81.81% (18/22). But by repeating the test with better digestion, the four cases made correct results so the final sensitivity rate was 100% (22/22). All of the eight trisomy 21 pregnancies were diagnosed with this method correctly so the specificity of this method was 100%. Also with performing STR-Typing and checking paternal alleles in maternal plasma and comparison with maternal alleles in 16 loci, the protocol of cell free fetal DNA extraction from plasma were confirmed.
Keywords of your Abstract : cell free fetal dna, aneuploidy, maternal plasma
Acceptance Letter : http://gsia.tums.ac.ir/images/UserFiles/19619/Forms/306/Mohammad Saberi_2.pdf
The presentation : Poster
The Cover of Abstract book : http://gsia.tums.ac.ir/images/UserFiles/19619/Forms/306/ESHG2014Abstracts (2)_1.pdf
Published abstract in the abstract book with the related code : http://gsia.tums.ac.ir/images/UserFiles/19619/Forms/306/ESHG2014Abstracts_1_1.pdf
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? : 3000
Delegates from which countries presented in the congress? : USA-UK-Germany-Italy-Netherland-Belgium,....
Were the delegates of any other organizations present in the congress? : Yes
If yes, please write the names of the organizations in the box : European Society of Human Genetics
What were the responses to your talking points? Were specific questions or concerns raised? : Our hypothesis was very novel in prenatal diagnosis by cell free fetal DNA, because it suggests a cost-effective method by differential methylation between mother and fetus as an alternative of next generation sequencing of DNA that extracted from maternal plasma. So, It was so intersting for participants.
If you met staff members, please list their full names & positions. : Dr. Jeffrey Barrett, Cambridge, United Kingdom
Dr. Brunhilde Wirth, Chair, Cologne, Germany
Dr. José Tijsen from Harmony Co., USA 
etc.,
Please inform us if there are any follow up actions we need to talk with the members of the congress : I talked with staffs of many companies that present biological and genetics products with goof offers. Also, I invited them to corporate with our department. For example BGI, Life science, Bio labs,.... 
The Society has an Executive Board (comprising the officers of the Society) who report to the governing Board, which consists of about 20 members. According to the statutes, each year up to two Board members are elected by the Society membership, and up to two Board members are nominated by the Board itself. This is to try to achieve a wide spread of representation, in line with the special interests of Society members.

The Board has set up several committees to oversee aspects of the Society organisation, and appoints the chairmen. A full activity report is presented to members at the membership meeting at the annual European Human Genetics Conference. Nominations are sought from members for the prestigious ESHG Award, prize donated earlier by the Baschirotto family at the European Human Genetics Conference. 

There is an Annual Meetings Committee which is responsible for all the practical and legal arrangements for the European Human Genetics Conference. The scientific programme is arranged by the Scientific Programme Committee.
Your experiences about the travel processes(Providing ticket, accommodation,...) : I just returned from a one week Italian vacation and absolutely fell in love with the country.
I can't say enough about what a wonderful experience I had, and how much I recommend traveling to this historical country.
Please give a briefing of your own observations and outcomes of the congress: : European Society of Human Genetics (ESHG), was founded in 1967 by a small group of outstanding European Geneticists (European Journal of Human Genetics: 3, 63-64, 1995). The decision which led to the founding of the ESHG was taken at an informal meeting of European participants at the IIIrd International Congress of Human Genetics in Chicago in September 1966. Membership was open; the first annual membership fee was $6. The founding chairman was J. Mohr who was secretary-general of the society until 1991. 
The ESHG is in regular contact with different directorates of the EU commission and other scientific organisations. With the support of the ESHG, the European Alliance of Genetic support groups was founded in 1991 in Leuven. The EAGS (now European Alliance of Patient and Parent Organisations for Genetic Services and Innovation in Medicine) meets at every annual meeting of the society and interacts regularly with the society on issues pertaining to the interests of the patients.
The society has a partnership with some major diagnostic biotech companies to keep abreast of all the complex issues related to human genetics. 
I believe that this scientific event will be a continuation of the previous successful meetings, held in various cities of european countries. In recent years, medical genetics has undergone profound changes and progress in the academic and medical level. European recommendations relating to treatment and diagnosis of rare genetic diseases network require collaboration between academic institutions and medical scientists from all of the world.
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