Hutchinson-gilford Progeria Syndrome

Incidence and onset information

Alternative names

Hutchinson-gilford Progeria Syndrome Is also known as progeria, hgps.

Researches and researchers

Doctors, researchs, and experts related to Hutchinson-gilford Progeria Syndrome extracted from public data.

Hutchinson-gilford Progeria Syndrome Experts map

Current Researchs and researchers

• WIEN — Dr Selma OSMANAGIC-MYERS

  Investigator of research project
  
  

  • Institution/s:
    — Universität für Bodenkultur
  • Research area/topic::
    

    Nucleocytoskeleton-mediated endothelial aging in progeria



• WIEN — Pr Roland FOISNER

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Max F. Perutz Laboratories (MFPL), Vienna Biocenter
  • Research area/topic::
    

    Molecular mechanisms of cardiovascular disease in progeria



• LYON — Dr Pascal SOMMER

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — CNRS UMR 5305, Institut de Biologie et Chimie des Protéines
  • Research area/topic::
    

    ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)



• MARSEILLE — Pr Nicolas LEVY

  Clinical geneticist - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of department
  
  

  • Institution/s:
    — Faculté de Médecine de la Timone
    — Département de génétique médicale, CHU de Marseille - Hôpital de la Timone
    — Département de génétique médicale, CHU de Marseille - Hôpital de la Timone
    — Département de Génétique Médicale, CHU de Marseille - Hôpital de la Timone
  • Research area/topic::
    

    EUROPROGERIA: european network for the scientific investigation of Hutchinson-Gilford-Progeria and related disorders



• MADRID — Dr José María GONZÁLEZ-GRANADO

  Investigator of research project
  
  

  • Institution/s:
    — CNIC - Centro Nacional de Investigaciones Cardiovasculares
  • Research area/topic::
    

    New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome



• MADRID — Dr Ana María GONZÁLEZ GARCÍA

  Investigator of research project
  
  

  • Institution/s:
    — Centro Nacional de Biotecnología (CNB-CSIC)
  • Research area/topic::
    

    Molecular therapy for Laminopathies



• GÖTEBORG — Pr Martin BERGÖ

  Investigator of research project
  
  

  • Institution/s:
    — Institute of Medicine, Göteborg University
  • Research area/topic::
    

    Targeting the CAAX protein processing enzymes in the treatment of progeria



• HUDDINGE — Dr Maria ERIKSSON

  Investigator of research project
  
  

  • Institution/s:
    — Karolinska Institutet - Huddinge
  • Research area/topic::
    

    Genetic mechanisms in progeria



• CAMBRIDGE — Pr Stephen JACKSON

  Investigator of research project
  
  

  • Institution/s:
    — Henry Wellcome Building of Cancer and Developmental Biology, University of Cambridge
  • Research area/topic::
    

    Chemical reversion of nuclear shape and other defects of Hutchinson Gilford Progeria Syndrome and Lamin A/C depleted cells



• OXFORD — Ms Elisabeth CARPENTER

  Investigator of research project
  
  

  • Institution/s:
    — University of Oxford
  • Research area/topic::
    

    Structure and function of ZMPSTE24, an integral membrane protease mutated in progeria

Hutchinson-gilford Progeria Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc (United States). YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 10 % Genes 50 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Close Specificity 5 % Genes 50 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 50 %
CMT Advanced Evaluation - Recessive. By Athena Diagnostics Inc (United States). PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1 Specificity 12 % Genes 50 %
LMNA (CMT2B1) DNA Sequencing Test. By Athena Diagnostics Inc (United States). LMNA Specificity 100 % Genes 50 %
Lamin A/C (LMNA) DNA Sequencing Test. By Athena Diagnostics Inc (United States). LMNA Specificity 100 % Genes 50 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...) View the complete list with 1 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A Close Specificity 5 % Genes 50 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA Specificity 17 % Genes 50 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 PSEUDOACHONDROPLASIA; PSACH PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD AUTOSOMAL DOMINANT CUTIS LAXA