Posts Tagged ‘cmg2’

The Genomics Landscape: A monthly update from the NHGRI Director – July 2017

Monday, July 10th, 2017

.@Genome_Gov Extramural Grant Portfolio
https://www.Genome.Gov/27569006/july-6-2017-the-nhgri-extramural-grant-portfolio-using-different-approaches-to-fund-genomics-research Nice grid divides programs into PI-initiated/consortia & RFA-solicited v not

Clues from the resilient

Wednesday, July 5th, 2017

Clues from the resilient Potential 2nd site mutations that neutralize #Mendelian-disease mutations

“For 127 catastrophic Mendelian diseases (those caused by a single gene such as cystic fibrosis and ataxia-telangiectasia), there are presently 164 genes harboring 685 known recurrent variants that are highly penetrant and causal for deleterious traits, most typically manifesting in individuals before the age of 18 (). …For common diseases, the observed small effect sizes of individual gene variants limit diagnostic potential, and given that most variants identified have an unclear function, how to target the corresponding gene for therapeutic intervention is typically unclear. For rarer Mendelian disorders, although genetics directly implicate a specific gene in a disease, a majority of such cases relate to loss-of-function mutations. Designing small molecules to fix the corresponding broken protein has proven difficult….
The prominent role of second-site mutations and environmental factors that enable resistance to (or buffer against) disease traits has been well established in a multitude of model organisms from yeast to mice (–). Screening for second-site mutations in “resilient” individuals that prevent disease-causing alleles from manifesting their effects could identify targets to which drugs would be designed to disrupt their function, as opposed to targeting the disease-causing gene directly. Genetic studies examining seemingly healthy people have revealed, for example, rare mutations in chemokine (C-C motif) receptor type 5 (the co-receptor for human immunodeficiency virus) that block HIV infection (), and secondary mutations in fetal globin genes that modify the severity of sickle cell disease by buffering primary mutations in β-globin genes ()

Ambry Freely Providing Aggregate Allele-Frequency Data From 10,000 Sequenced Cancer Patients

Sunday, March 27th, 2016

.@AmbryGenetics…Providing Aggregate Allele-Freq. Data From 10k Sequenced Cancer
Patients ExAC-like presentation

YaleNews | $12 million grant extends funding for Center for Mendalian Genomics

Friday, January 15th, 2016

lof paper in Nat Gen

Friday, August 28th, 2015

Analysis of #LOF variants & 20 risk factor phenotypes in 8.6K individuals identifies loci [both well known & new]


Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

Alexander H Li,
Alanna C Morrison,
Christie Kovar,
L Adrienne Cupples,
Jennifer A Brody,
Linda M Polfus,
Bing Yu,
Ginger Metcalf,
Donna Muzny,
Narayanan Veeraraghavan,
Xiaoming Liu,
Thomas Lumley,
Thomas H Mosley,
Richard A Gibbs
& Eric Boerwinkle

One of a Kind – New Yorker

Tuesday, July 7th, 2015

One of a Kind Story of rare mutation in NGLY1, illustrates power of #socialmedia, quite relevant to @solvemendelian

Medical Dispatch JULY 21, 2014 ISSUE
One of a Kind
What do you do if your child has a condition that is new to science?