Consanguinity, that is the practice to get married between closely related individuals, is still a common habit in many regions of the world.

Although the worldwide prevalence of consanguineous unions seems to be declining, it is estimated that a 10.4% of the 6.7 billion global population is related as second cousins or closer.

This tendency remains particularly strong in those communities in which social and cultural tradition encourages close-kin marriages.

Within genetics, contemporary attention on consanguinity continues to be largely focused on rare autosomal recessive diseases. However, from an overall health perspective, consanguinity is a much wider and more complex topic involving major social, economic, and demographic influences.

The main aim of the course is to enhance sharing of knowledge and promote research on the molecular and statistical genetics aspects of consanguinity.

 

Workshops will include:

•    Basic data handling and analysis using PLINK
•    An introduction to ‘R’ for genetic analysis
•    Estimating individual genome-wide homozygosity-by-descent using FEstim
•    GWA analysis in genetically isolated populations using the GenABEL suite
•    Homozygosity mapping using NGS alignment data.

L. L. Cavalli-Sforza (Milan, Italy)

C. Cannigs ( Sheffield, UK)

G. Romeo (Bologna, Italy)

Course on Molecular and Statistical Genetics of Consanguinity

13-16  May, 2012

EuroMediterranean University Center of Ronzano-Bologna (Italy)

Directors:

L. L. Cavalli-Sforza (Milan, Italy), C. Cannings (Sheffield, UK), G. Romeo (Bologna, Italy)

 

13 May Sunday

 

Morning Session:Basic theory on kinship, inbreeding and IBD : applications to medicine

 

8:00- 8.30                     Course Registration

8.30- 9.20                     G. Romeo Introduction to the course.  Evolution of consanguinity studies

9.20- 10.10.                  A. Bittles  Consanguineous marriage: facts versus fiction

10.10-11.30                  C. Cannings The Basic Theory of Inbreeding; Genes, Chromosomes, Genealogies.

11.30-11.50                  Coffee Break

11.50-12.30                 P. Gasparini  The use of genetic isolates to dissect complex and quantitative traits: the
                                              advantage of a national network of inbred populations

 12.30-14:00                Lunch Break and tour of the Hermitage of Ronzano

 

Afternoon Session: Consecutive Workshops and  Posters Viewing 14.00-18.00

 

D. Teare  Introduction to “R”

Break         Posters Viewing with tea

D. Teare and A.L.  Leutenegger  Basic data handling and analysis using PLINK

 

14 May Monday

 

Morning Session:  Molecular approaches (population inbreeding studies, inferring relationships from GWAS or sequencing data i.e.: runs of homozygosity).

 

9.00- 10.00                  F. Cucca The Sardinia project  (part I)

10.00- 11.00               Y. Aulchenko  Using mixed models for Genome-Wide Association Studies in genetically  isolated populations

11.00-11. 30                Coffee Break

11.30-12.20                 P. Gasparini Consanguinity and next generation sequencing to identify genes for inherited diseases

12.30-13.30                  Lunch

 

Afternoon Session: Consecutive Workshops and  Posters Viewing 13.30-18.00

 

A.L.  Leutenegger   Estimating individual genome-wide homozygosity-by-descent using Festim

Break                        Posters Viewing with tea                 

 

Y. Aulchenko          GWA analysis in genetically isolated populations using GenABEL suite

 

15 May Tuesday

 

Morning Session: NGS and gene identification for Intellectual Disabilities

 

09.00- 10.0           F. Cucca  The Sardinia project  (part II)

10.00- 11.00         Y. Aulchenko  Computational and methodological challenges in analysis of omics data

11.00-11. 30          Coffee Break 

11.30-12.20           A. L.  Leutenegger  Unexpected findings in Taybi-Linder syndrome/MOPD1 : an illustration

of homozygosity mapping by genomic control

12.20-13:00             Best posters presentations and presentation of research  projects by students

13.00- 14.00            Lunch

 

Afternoon Session: Consecutive  Workshops 14.00-18.00

 

A. Magi and T. Pippucci  Homozygosity mapping using next generation sequencing alignment data

Open class with students on issues arisen during the workshops

 

 

16 May Wednesday

 

Morning Session: Future research directions in the consanguinity field (with particular emphasis on gene identification for Intellectual Disabilities)

 

9.00- 09.40            A. Bittles Consanguinity and developmental intellectual disabilities

09.40- 10.20          D. Teare  Epidemiological associations between disease risk and inbreeding: the case of type 2 Diabetes  and consanguinity in Saudi Arabia

10.20-10. 40          Coffee Break

10.40-11.20           Presentation of  the results of  the EU Cherish Project  (Project Grant Agreement N°223692 )

11.20-12.00           C. Cannings  and G. Romeo  Future Directions

12.00-13.00            General discussion: How to construct a new European project  for the identification of  genes responsible for intellectual disabilities  (possibly in teleconference with research groups working in countries with high levels of inbreeding)

13.00                      Lunch and departure

REGISTRATION FEE: €750+ VAT (21%) if applicable

The fee includes tuition, course material, lunches, coffee breaks,  transportation  from Porta San Mamolo (meeting point) to the course venue and back.

 

Please note:

The Value Added Tax, or VAT, in the European Union is a general, broadly based consumption tax assessed on the value added to goods and services.
In Italy the VAT percentage on the course fee is 21%.

You can be eligible for a VAT reduction in the following cases:

- You are ITALIAN and work for a PUBLIC INSTITUTION (PhD, students, Researchers, Post Doc, …) in this case please contact your course officer to obtain the reduction form

- You are NOT ITALIAN and work in a FOREIGN COUNTRY WITHIN EC. The invoice must be addressed to your Institution/Company and it is NECESSARY to complete the field VAT Number. You will be exempted from the payment of VAT

- You are NOT ITALIAN and work in a FOREIGN COUNTRY OUTSIDE EC. The invoice must be addressed to your Institution/Company. In this case you will be automatically exempted from the payment of VAT

If the invoice is addressed to yourself you are not exempted from Vat payment.

For more details please visit the FEE section in the FAQs

 

ACCOMMODATION: The fee doesn’t include the hotel accommodation.

For more information please visit the section: ACCOMMODATION INFO

The European Society of Human Genetics offers  5  fellowships covering the registration fee.

Applicants for fellowships should submit their request together with CV and a reference letter to esgm.fellowships@eshg.org and to serena.paterlini@eurogene.org

Deadline for sending Cv: April 6th , 2012 at 18.00 (Bruxelles Time)

 

POSTER SUBMISSION:

Deadline for sending Abstracts: April 6th , 2012 at 18.00 (Bruxelles Time)