Genetics of Vision Disorders: Research, Testing, and Translation

Genetics of Vision Disorders: Research, Testing, and Translation

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Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.

Source
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Abstract
Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (∼1.5-5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1. These results provide a cautionary tale about the challenges in identifying the genes responsible for mendelian, let alone more complex, disorders through massively parallel sequencing.

PMID: 23396133 [PubMed - in process]

HGP10 Symposium Agenda

The Genomics Landscape a Decade after the Human Genome Project
Ruth L. Kirschstein Auditorium
Natcher Conference Center
National Institutes of Health
April 25, 2013


HGP10 Symposium Agenda

Otra interesante infografía sobre enfermedades raras

80% de las enfermedades raras son genéticas.


ORPHAN DRUGS & RARE DISEASES.

Algunos tweets de la GET Conference 013

Algunos tweets de la GET Conference 013.


Collins: only 250 of some 5,000 known Mendelian disorders have some sort of therapy. #HGP10

Birney; 99% genome is within 1.7 kb of a 'biochemical event'; 95% is within 8 kb of a footprint/bound motif #ENCODE #HGP10

ST: 3 million completely novel variants discovered in recent WGS of just 15 African pygmies (published 2012 @CellCellPress) #HGP10

Birney: around 2000, textbooks still talked about 100,000 total genes. Even early @ensembl estimate of 38K was met with shock/horror

As @jasonbobe pointed out, today is day 60yrs ago that Watson & Crick Nature paper on structure of DNA published (w/o peer review). #GET2013

Eric Green (@NHGRI): when HGP started, we used to send DNA sequence around by fax. #HGP10 #DNA60

Ovejas fluorecentes.uy

Ovejas transgénicas abren nueva era de investigación en salud - Subrayado

Verde flúo - La Diaria

Científicos uruguayos produjeron nueve ovejas transgénicas - Prensa Latina

Nacen las primeras nueve ovejas transgénicas uruguayas - El Espectador

Vea a las ovejas transgénicas uruguayas - BBC Mundo

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