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How many volunteers were present at the Congress? : |
Around 3000 |
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Delegates from which countries presented in the congress? : |
Basically many countries were present in these sort of meetings such as: Spain, Italy, Germany, France, England, Netherlands, Sweden, Denmark, etc |
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Were the delegates of any other organizations present in the congress? : |
Yes |
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If yes, please write the names of the organizations in the box : |
European Society of Human Genetics, American Society of Human Genetics, EuroGentest and Human Genetics |
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What were the responses to your talking points? Were specific questions or concerns raised? : |
The main issue that was raised by a number of participants was the logic of using this method for diagnostic purposes. The reason behind their concern was the advances that happened in recent years in next generation sequencing. This is absolutely correct that availability of next generation sequencing (NGS) may change the routine methods that are being used these days for diagnosis of many genetic diseases including hyperthrophic cardio-myophathy. But we must consider a number of issues including the different level of accessibility of new technologies in different countries. NGS is still a very expensive technology for many countries and is going to be so at least for near future. In addition to this, performing and analysis of data obtained by NGS require a team of expertise. Again such a team of experts cannot be gathered easily. Having all these, the method suggested in our work, sometimes is necessary for the genetic analysis of fetus even in a center that NGS is available. |
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If you met staff members, please list their full names & positions. : |
I do not think if it is appropriate to put the names of people on the website. |
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Please inform us if there are any follow up actions we need to talk with the members of the congress : |
I really do not understand the purpose of this question. I do not know which sort of action university may take regarding the member of congress. I suggest to put a list of possible follow up actions that university is able to take or suggest to take. Then participants can choose from the list.
Here, to fill the required numbers of characters I have to paste what was written in another section of the form.
The principal issue that was raised by a number of participants was the reasoning of using this method for diagnostic goals. The argument behind their concern was the advances that happened in recent years in next generation sequencing. This is definitely correct that accessibility of next generation sequencing (NGS) may change the routine methods that are being used these days for diagnosis of many genetic disorders including hyperthrophic cardio-myophathy. But we must note a number of issues including the various level of availability of new technologies in different countries. NGS is still a very costly technology for many countries and is going to be so at least for near coming. In addition to this, performing and analysis of data obtained by NGS need a team of expertise. Again such a team of experts cannot be assembled easily. Having all these, the method suggested in our work, sometimes is essential for the genetic analysis of fetus even in a center that NGS is available. |
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Your experiences about the travel processes(Providing ticket, accommodation,...) : |
Generally, it was fine. |
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Please give a briefing of your own observations and outcomes of the congress: : |
First of all here is the abstract I submitted to the congress:
Introducing a multiplex panel of markers for genetic testing of familial hypertrophic cardiomyopathy based on linkage analysis
M. Keramatipour1, H. Saghafi1, M. Haghjoo2, S. Sabbagh1, N. Samiee2, A. Amin2, F.Vakilian2;
1Tehran University of Medical Sciences, Department of Medical Genetics, Tehran, Islamic
Republic of Iran, 2Tehran University of Medical Sciences, Rajaie Cardiovascular Medical
and Research Center, Tehran, Islamic Republic of Iran.
Aims: Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding cardiac sarcomere proteins. Nowadays genetic testing of HCM plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high risk individuals. The aim of this study was developing a reliable testing strategy for HCM based on linkage analysis and appropriate for Iranian population. Methods and Results: six panels of four microsatellite markers surrounding MYH7, MYBPC3, TNNT2, TNNI3, TPM1, and MYL2 genes (24 markers in total) were selected for multiplex PCR and fragment length analysis. Characteristics of markers and informativeness of the panels were evaluated in 50 unrelated Iranians. The efficacy of the strategy was verified in a family with HCM. all markers were highly polymorphic. The panels were informative in 96-100% of samples. Multipoint linkage analysis excluded the linkage between the disease and all six genes by obtaining maximum LOD score ≤ -2. Conclusion: This study suggests a reliable genetic testing method based on linkage analysis between 6 sarcomere genes and familial HCM. It could be applied for diagnostic, predictive, or screening testing in clinical setting.
Followings are the points I would like to present regarding the congress:
Generally, the congress was very good. One of the main benefits of the congress for me was to finalize an agreement to send PhD students for a part of their education of their labs.
The main matter under discussion that was raised by a number of participants was the logic of using this method for diagnostic purposes. The reason behind their concern was the progresses that happened in recent years in next generation sequencing. This is absolutely right that availability of next generation sequencing (NGS) may change the routine techniques that are being used these days for diagnosis of many genetic diseases including hyperthrophic cardio-myophathy. But we must regard a number of issues including the different level of accessibility of new technologies in different countries. NGS is as yet a very expensive technology for many countries and is going to be so at least for near future. Extra to this, performing and analysis of data achieved by NGS require a team of expertise. Again such a group of experts cannot be gathered without difficulty. Having all these, the method proposed in our work, sometimes is indispensable for the genetic analysis of fetus even in a center that NGS is available.
Here, to fill the demanded numbers of characters, again I have to paste what was written in another part of the form.
This analysis suggests a credible genetic testing method based on linkage analysis between 6 sarcomere genes and familial HCM. It could be applied for diagnostic, predicting, or screening testing in clinical setting. |