The EJHG publishes short announcements (free of charge for ESHG members) regarding meetings in Europe, positions available and other announcements of interest to the Human Genetics community in Europe

EUCROMIC: European Collaborative Research on Mosaicism in Chorionic Villus Sampling

(EU Concerted Action project No. BMH1-CT93-1673)

The European Union (EU) supports two types of projects in the biomedical field: laboratory research itself and concertation. The latter seeks to concretize collaboration between groups working on or interested in similar problems, via financial support for the organization of workshops, staff exchange, newsletters and the like.

EUCROMIC, whose project leader is Dr. Lars O. Vejerslev (Glostrup, Denmark), grew out of the European collaborative study of chronic villus sampling (CVS) initiated by Professors M. Mikkelsen and M. Fraccaro in 1984, and based in Glostrup since 1986. Since then the collaborative study has collected information on CVS, particularly its cytogenetic reliability [1, 2]. Data have been collected on over 64,000 CVS procedures performed between 1986 and 1992 in 48 genetics centers. Since December 1, 1994, the study has been funded by the EU as a concerted action, having the expanded goal of monitoring the development of, and trends in, prenatal diagnosis in Europe. As of December 1, 1994, 70 centers are registered participants in the EUCROMIC concertation.

EU funding covers costs of the general secretariat in Glostrup, which takes care of mailings, organizes workshops, coordinates staff exchange, and will soon provide a literature data bank as well. The centralized prenatal data base includes detailed cytogenetic and technical data on CVS and, as of 1993, also collects information on the utilization of other prenatal diagnosis techniques (early amniocentesis, cordocentesis, celocentesis, and sampling of fetal cells in maternal blood).

Two closely linked ‘ancillary projects’ are part of EUCROMIC [3]; these are based in Geneva and funded by the Swiss government (grant No. 93-0337 to Dr. Célia DeLozier-Blanchet). These studies, which are specifically concerned with those CVS results showing discrepancies between the chromosomal constitutions of the fetus versus the placenta (currently 948 cases) are: (1) clinical follow-up of children born after CVS mosaicism/discrepancies, and (2) research for uniparental disomy (UPD) in children as well as fetuses whose CVS revealed such discrepancies. Clinical follow-up is obtained through questionnaires filled out by the genetics centers that initially reported the cases whereas UPD research is done either in the individual centers, or the material is sent to Geneva for analysis in one of six EUCROMIC-UPD laboratories. A data base has recently been created in Geneva and linked to the one in Glostrup.

In 1994, EUCROMIC organized workshops at the Jerusalem meeting on Early Prenatal Diagnosis (May, 1994) and at the European Society of Human Genetics (ESHG) annual meeting in Paris (June, 1994). The second EUCROMIC newsletter will come out in December, and a 1-day workshop on ambiguous cytogenetic findings in prenatal diagnosis will be held following the ESHG meeting in Berlin in May, 1995.

For more information about EUCROMIC contact:

Dr. Johanne M. Hahnemann/Dr. Lars O. Vejerslev

Dept. of Medical Genetics

John F. Kennedy Institute

Gl. Landevej 7–9

DK-2600 Glostrup (Denmark)

Tel: (45/42) 45.22.28

Fax: (45/43) 43.11.30

For information specifically about the ancillary projects contact:

Dr. Célia DeLozier-Blanchet/Dr. Béatrice Pellegrini

Division of Medical Genetics, CMU

1 rue Michel-Servet

CH-1211 Geneva (Switzerland)

Tel: (41/22) 702.57.05/702.5695

Fax: (41/22) 702.57.06

Primary Ciliary Dyskinesia (Kartagener Syndrome and Others)

Collaboration is sought in identifying families willing to participate in a search for the responsible genes. As this will initially be a linkage study, blood (or DNA) samples from both parents and offspring are needed; the following types of families are sought: (1) those with two (or more) affected siblings, (2) those in which the parents are consanguineous and (3) families with one affected as well as one or more unaffected individuals. Information on the electron-microscopic findings in at least one affected person per family is also needed. Please contact:

C. DeLozier-Blanchet/S.E. Antonarakis

Division of Medical Genetics, CMU

1 rue Michel-Servet

CH-1211 Geneva (Switzerland)

Tel.: (41/22) 702.57.05

Fax: (41/22) 702.57.06

36th Annual Short Course in Medical and Experimental Mammalian Genetics

Bar Harbor, Me., USA, July 17–28, 1995

A joint undertaking of The Jackson Laboratory and Johns Hopkins University, this course consists of 52 h of lectures on chromosome structure and function, molecular genetics, biochemical genetics, immunogenetics, population genetics, developmental genetics, clinical genetics, etc., and 22 h of workshops on molecular genetics, cytogenetics, biochemical screening and patient evaluation, computers in the management of genetic data, linkage analysis, transgenic methods, and mouse models, as well as a medical genetics clinic with patient presentations.

The faculty includes 10 members of The Jackson Laboratory staff, 10 from the faculty of the Johns Hopkins University School of Medicine and 16 guest lecturers from other institutions.

Supported by The March of Dimes Birth Defects Foundation, National Institute of Child Health and Human Development, NIH.

The course is limited to 120 participants and the registration fee is US$ 475.00. Inquiry or application can be made to either of the codirectors of the course:

Edward H. Birkenmeier, MD

Attn: Judie Musetti

The Jackson Laboratory

Bar Harbor, ME 04609-1500 (USA)

Victor A. McKusick, MD

Center for Medical Genetics

Johns Hopkins Hospital

Baltimore, MD 21287-4922 (USA)