Docstoc

Progeria A new kind of laminopathy

Document Sample
Progeria A new kind of laminopathy Powered By Docstoc
					1st European Symposium

Progeria: A new kind of laminopathy
Clinical and molecular update of the Hutchinson - Gilford syndrome

September 25th 2003 Magdeburg, Germany 13.00 - 18.00 RAMADA-Hansa Hotel, Magdeburg

Organisation
Dr. Thomas Brune, Department of Paediatrics, University of Magdeburg, Germany Elke Pieper Fietz, Progeria Family Circle, Bremen, Germany

Dear colleague,

Progeria is a rare, genetically determined condition characterized by accelerated aging in children. Its name is derived from Greek and means "prematurely old". The classic type is the HutchinsonGilford Progeria Syndrome (HGPS) which was first described in England in 1886 by Dr. Jonathan Hutchinson and again in 1886 by Dr. Hastings Gilford. In early 2003 two working groups (French and American, respectively) succeeded in identifying point mutations in the lamin A/C gene as the cause of HGPS.

HGPS is the most recent and most conspicuous disorder added to the expanding catalogue of 'laminopathies', diseases caused by mutations affecting nuclear lamina proteins. The (eight) disorders associated with mutations in LMNA are diverse, both in symptomatology and in pattern of inheritance. Dominant disorders are Dilated Cardiomyopathy with conduction defect, Familial Partial Lipodystrophy, Emery-Dreifuss Muscular Dystrophy (AD-EDMD or EMD2), Limb-Girdle Muscular Dystrophy with conduction defects, and Hutchinson-Gilford Progeria. Recessive disorders are Emery-Dreifuss Muscular Dystrophy (AR-EDMD or EMD3), Charcot-Marie-Tooth Disease type 2 and Mandibuloacral Dysplasia.

A reunion of families with a child with progeria, gathered within the European Progeria Family Circle, will be held from 25th September - 29th September 2003 in Magdeburg, Germany. To coincide with this, we have organized a symposium which aims to present a clinical and molecular update of HGPS. Several international experts in the field of laminopathies as well as physicians with clinical experience in diagnosis, treatment and research of Progeria and/or Progeria-like syndromes will present their experience. The programme of the meeting is attached.

We are pleased to extend a warm invitation to you to attend the Symposium ’Progeria: A New Kind of Laminopathy´ in Magdeburg.

With kind regards

Yours sincerely,

Dr. Thomas Brune

Elke Pieper-Fietz

Scientific Programme
13.00 Welcome and Introduction Thomas Brune Elke Pieper Fietz General Aspects of Progeria and Laminopathies Chairman: Peter Wieacker 13.30 Progeria: A General Overview Raoul Hennekam Clinical Variability of Laminopathies Manfred Wehnert Functioning of Lamin A and C in Health and Disease Giselle Bonne Mutations in LMNA encoding lamin A type proteins in Hutchinson-Gilford Progeria and functional exploration of progeroid syndromes Nicolas Levy Connective Tissue and Its Heritable Disorders Beat Steinmann Coffee Break

14.00

14.30

15.00

15.30

16.00

Clinical Aspects of Progeria Chairman: Nicolas Levy 16.30 Diagnosis and Differential Diagnosis of a Typical Case of HGPS with the Classical Mutation in Lamin A/C Exon 608 Elisabeth Steichen Diagnosis and Differential Diagnosis of Two Untypical Cases of HGPS without the Classical Mutation in Lamin A/C Exon 608 Thomas Brune The Quest Progeria from the View of a Mother with a Child Affected by HGPS Marjet Stamsnijder

16.50

17.10

Ongoing Research Chairman: Raoul Hennekam 17.30 A Premature Stop Codon in the Lamin-A Gene Causes HGPS Thorsten Marquardt, DNA-Methylation Analysis of Different Cases of Laminopathies Kurt Berlin Summary and Final Words Raoul Hennekam

17.50

18.10

List of Active Participants
Kurt Berlin, PhD Member of the board Epigenomics AG, Berlin, Germany Thomas Brune, MD Paediatrician University Children's Hospital Magdeburg, Germany Nicolas Levy, MD, PhD Professor of Human Genetics Inserm U 491; Faculté de Médecine de la Timone Marseille, France Elke Pieper-Fietz Chairman of the board Progeria Family Circle Bremen, Germany Elisabeth Steichen, MD Professor of Neonatology and Clinical Genetics University Children's Hospital Innsbruck, Austria Manfred Wehnert, MD Professor of Human Genetics Institute of Human Genetics Greifswald, Germany Giselle Bonne, MD Professor of Human Genetics Inserm UR 523, Institut de Myologie, Paris, France Raoul CM Hennekam, MD PhD Professor of Paediatrics and Clinical Genetics University Hospital of Amsterdam, Amsterdam, The Netherlands Thorsten Marquardt, MD Paediatrician University Children's Hospital Muenster, Germany Marjet Stamsnijder Member of the Board Progeria Family Circle Utrecht, The Netherlands Beat Steinmann, MD Professor of Paediatrics University Children's Hospital Zurich, Switzerland Peter Wieacker, MD Professor of Human Genetics Institute of Human Genetics Magdeburg, Germany

General Information
Location: Ramada-Hansa-Hotel Magdeburg Hansapark 2 39116 Magdeburg, Germany Phone: ++49 (0)391- 63630 Fax: ++49 (0)391- 6363550 http://www.ramada-treff.de/cgi-bin/hotel.cgi?TCODE=HTZMGMA Room reservations: please note: Progeria Symposium Thomas Brune, MD University Children’s Hospital Wienerstr. 39114 Magdeburg, Germany E-Mail: thomas.brune@medizin.uni-magdeburg.de Tel.: ++49/ (0)391/6717006 Fax: ++49/ (0)391/6717002 www.progeriafamilycircle.de

Organisation:

Contact:

Website:

Remittance please under statement of the name and the address onto the following account: Account holder: Account number: A.B.A. number: Bank: Intended use: Progeria 810 015 04 810 000 00 Deutsche Bundesbank Magdeburg 472260/995330

       

Registration Fee:

Participants th Registration before September 15 : Students and Junior House Officers (AIP): th Registration before September 15 :

50 35 25 15


				
DOCUMENT INFO
Shared By:
Stats:
views:258
posted:9/17/2008
language:English
pages:4