Down syndrome and the genes of human chromosome 21

Current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: Towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007

M. Pritchard, Roger H Reeves, M. Dierssen, D. Patterson, K. J. Gardiner

Research output: Contribution to journalArticle

Abstract

Down syndrome (DS), trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. With an incidence in some countries as high as one in approximately 700 live births, and a complex, extensive and variably severe phenotype, Down syndrome is a significant medical and social challenge. In recent years, there has been a rapid increase in information on the functions of the genes of human chromosome 21, as well as in techniques and resources for their analysis. A recent workshop brought together experts on the molecular biology of Down syndrome and chromosome 21 with interested researchers in other fields to discuss advances and potentials for generating gene-phenotype correlations. An additional goal of the workshop was to work towards identification of targets for therapeutics that will correct features of DS. A knowledge-based approach to therapeutics also requires the correlation of chromosome 21 gene function with phenotypic features.

Original languageEnglish (US)
Pages (from-to)67-77
Number of pages11
JournalCytogenetic and Genome Research
Volume121
Issue number1
DOIs
StatePublished - Jun 2008

Fingerprint

Chromosomes, Human, Pair 21
Human Chromosomes
Down Syndrome
Phenotype
Education
Genes
Trisomy
Live Birth
Intellectual Disability
Molecular Biology
Research Personnel
Incidence
Therapeutics

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

@article{23e87f39de744737a943802919a2afba,
title = "Down syndrome and the genes of human chromosome 21: Current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: Towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007",
abstract = "Down syndrome (DS), trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. With an incidence in some countries as high as one in approximately 700 live births, and a complex, extensive and variably severe phenotype, Down syndrome is a significant medical and social challenge. In recent years, there has been a rapid increase in information on the functions of the genes of human chromosome 21, as well as in techniques and resources for their analysis. A recent workshop brought together experts on the molecular biology of Down syndrome and chromosome 21 with interested researchers in other fields to discuss advances and potentials for generating gene-phenotype correlations. An additional goal of the workshop was to work towards identification of targets for therapeutics that will correct features of DS. A knowledge-based approach to therapeutics also requires the correlation of chromosome 21 gene function with phenotypic features.",
author = "M. Pritchard and Reeves, {Roger H} and M. Dierssen and D. Patterson and Gardiner, {K. J.}",
year = "2008",
month = "6",
doi = "10.1159/000124384",
language = "English (US)",
volume = "121",
pages = "67--77",
journal = "Cytogenetic and Genome Research",
issn = "1424-8581",
publisher = "S. Karger AG",
number = "1",

}

TY - JOUR

T1 - Down syndrome and the genes of human chromosome 21

T2 - Current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: Towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007

AU - Pritchard, M.

AU - Reeves, Roger H

AU - Dierssen, M.

AU - Patterson, D.

AU - Gardiner, K. J.

PY - 2008/6

Y1 - 2008/6

N2 - Down syndrome (DS), trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. With an incidence in some countries as high as one in approximately 700 live births, and a complex, extensive and variably severe phenotype, Down syndrome is a significant medical and social challenge. In recent years, there has been a rapid increase in information on the functions of the genes of human chromosome 21, as well as in techniques and resources for their analysis. A recent workshop brought together experts on the molecular biology of Down syndrome and chromosome 21 with interested researchers in other fields to discuss advances and potentials for generating gene-phenotype correlations. An additional goal of the workshop was to work towards identification of targets for therapeutics that will correct features of DS. A knowledge-based approach to therapeutics also requires the correlation of chromosome 21 gene function with phenotypic features.

AB - Down syndrome (DS), trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. With an incidence in some countries as high as one in approximately 700 live births, and a complex, extensive and variably severe phenotype, Down syndrome is a significant medical and social challenge. In recent years, there has been a rapid increase in information on the functions of the genes of human chromosome 21, as well as in techniques and resources for their analysis. A recent workshop brought together experts on the molecular biology of Down syndrome and chromosome 21 with interested researchers in other fields to discuss advances and potentials for generating gene-phenotype correlations. An additional goal of the workshop was to work towards identification of targets for therapeutics that will correct features of DS. A knowledge-based approach to therapeutics also requires the correlation of chromosome 21 gene function with phenotypic features.

UR - http://www.scopus.com/inward/record.url?scp=44949083559&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=44949083559&partnerID=8YFLogxK

U2 - 10.1159/000124384

DO - 10.1159/000124384

M3 - Article

VL - 121

SP - 67

EP - 77

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

SN - 1424-8581

IS - 1

ER -