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Disease gene discovery through genome sequencing and data exchange: perspectives for genetic diagnosis and drug development
Published on Jul 21, 20141511 Views
During the early 1990ies, genome research has shifted to common diseases, driven by the intuitive but unproven hypothesis that for common disorders, common genetic risk factors must exist. Today, af
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Disease gene discovery through genome sequencing and data exchange: perspectives for genetic diagnosis and drug development00:00
Since the introduction of NGS, no. of genes implicated in single gene disorders has doubled, from ~2000 in 2007 to >4000 in 201402:04
... because for most common diseases, GWAS has failed to identify genetic markers that are of diagnostic relevance 03:39
While prominent supporters of the CD/CV hypothesis have changed their mind about GWAS...06:25
... others go on undeterred.......06:53
And yet others intend to replace GWAS by genome sequencing to detect major genes, not markers, in common diseases- a good idea?08:32
ID (IQ <70): a major socio-economic burden09:44
Severe intellectual disability (ID) in Western societies11:17
Array-based Comparative Genomic Hybridization (Array-CGH)12:50
16p13.11 deletions and duplications: among the most common CNVs seen in MR and related conditions14:23
XLID genes identified until 200915:12
High-throughput – low cost sequencing revolutionizes genome research and genetic health care15:48
Exon sequencing in 248 unrelated families reveals 13 novel genes for X-linked intellectual disability; total no. of known XLID genes: 11016:05
Report/Article16:46
ID and other early-onset disorders are significantly more common in countries of the "consanguinity belt"17:40
>450 consanguineous Iranian families19:07
Article - 119:15
Novel molecular defects underlying syndromic and non-syndromic ID19:51
Recent study quadruplicates the number of known genes for non-syndromic recessive mental retardation20:09
Follow-up20:41
Next Generation Sequencing: three different flavors21:23
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders22:53
Carries testing for severe childhood recessive diseases by next-generation squencing23:57
Personalized genomic disease risk of volunteers25:23
Promoting NGS as health care tool: partnering with parents and media25:58
Research27:41
Article - 228:18
Article - 328:31
‘Illumina’s new HiSeq XTen machine could slash cost of sequencing your genome to $1,000’29:44
Take-home messages30:32
Thank you31:38