Showing 5 ideas for tag "phenotype"

Goal 2: Reduce Human Disease

Identifying Epistatic Genes in Sickle Cell Disease

What genes are involved in the modulation of phenotype in sickle cell disease?

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

Details on the impact of addressing this CQ or CC

The pathophysiology of sickle cell disease results from cellular defects caused directly by the Hb S mutation interacting with the environment and many other gene products—some known, but most yet unidentified–a typical example of epistasis. How normal tissue perfusion is interrupted is complex and why the phenotype of sickle cell disease differs from patient to patient is poorly understood. Answers to this question will provide additional insight into their biological and functional relationships.

Feasibility and challenges of addressing this CQ or CC

Scientific advances make it feasible to identify additional epistatic genes, which will provide additional insight into their biological and functional relationships.

Name of idea submitter and other team members who worked on this idea The Sickle Cell Association of New Jersey

Voting

6 net votes
6 up votes
0 down votes
Active

Goal 3: Advance Translational Research

Biomarkers of asthma

Need to develop and integrate biomarkers of asthma into phenotype/endotype-driven asthma management algorithms

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

Name of idea submitter and other team members who worked on this idea Asthma and Allergy Foundation of America (AAFA)

Voting

1 net vote
1 up votes
0 down votes
Active

Goal 1: Promote Human Health

The CRISPER-Cas challenge: Need to re-phenotype KO animals?

Because traditional knock out models and CRISP/Cas models often show different phenotypes for the same gene deletion, do we need to re-phenotype hundreds/thousands of knock out animal models and revisit the conclusions of many studies based on using these animal models? This research may not appear very innovative but may be very important for drawing correct conclusions about gene functions and interactions - should... more »

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

Details on the impact of addressing this CQ or CC

Discovering differences in phenotypes may change many conclusions reported previously regarding gene functions and interactions.

Feasibility and challenges of addressing this CQ or CC

New methodologies for genetic editing are available
I recently saw at least of couple of presentations showing compelling evidence that KO mice generated with CRISPR (clustered regularly interspaced short palindromic repeat) and Cas (CRISPR-associated) had different phenotypes from the corresponding existing - and widely used - KO (same gene had been knocked-out) using previous methods. This was attributed to the non-specific modification introduced by previously used constructs/methods compared to the most recent precise genetic editing methods using with CRISPER-Cas.

Name of idea submitter and other team members who worked on this idea NHLBI Staff

Voting

-16 net votes
10 up votes
26 down votes
Active

Goal 1: Promote Human Health

Nicotine abuse and fetal programming of heart ischemic disease

It is well-known that cigarette smoking is a major risk factor of heart ischemic disease. However, little information is known about the maternal smoking and fetal programming of heart ischemic disease in adulthood. Recently, e-cigarette (nicotine use) during pregnancy is a worldwide health concern. Epidemiologic studies have indicated that cigarette smoking during pregnancy is associated with an increased risk of cardiovascular... more »

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

Name of idea submitter and other team members who worked on this idea D Xiao

Voting

-3 net votes
5 up votes
8 down votes
Active