Showing 4 ideas for tag "deficiency"

Goal 1: Promote Human Health

Understanding Individual Differences in Responses to Sleep Loss

Individuals differ substantially in their physiological, health, behavioral and cognitive responses to sleep loss. Although these differences represent a trait, individuals who are vulnerable in one domain may be resilient in another - few systematic relationships between physiological, long-term health, cognitive and subjective responses to sleep loss have been found. Moreover, within a given domain, vulnerability to... 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

Addressing this CQ is a sine-qua-non for individualized medicine. Especially in the case of physiological and long-term health responses to sleep loss, the differential vulnerability trait and the underlying mechanisms are not well characterized. However, as seen in the cognitive domain, investigating individual differences can help elucidate the underlying mechanisms. Thus, this should be a fruitful line of research not only in the context of individual differences per se, but also for better understanding the link(s) between sleep loss and adverse health outcomes in general.

Feasibility and challenges of addressing this CQ or CC

This CQ can be addressed by adopting a systems (neuro)biology approach in which individual differences are considered at the systems components level rather than the whole organism level. For example, the task-dependence of individual differences in vulnerability to cognitive impairment due to sleep loss may be investigated at the level of neuronal circuits that subserve performance of the task at hand, rather than at (or in conjunction with) the whole brain / genetic level. A significant challenge in this regard is that in the case of physiological and health responses to sleep loss, the differential vulnerability trait and the underlying mechanisms are not yet well characterized. See "Details On The Impact Of Addressing This CQ".

Name of idea submitter and other team members who worked on this idea 1

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Goal 3: Advance Translational Research

Do Alpha-1 Antitrypsin Deficiency and Cystic Fibrosis Inform COPD? Have we been looking?

Cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (AATD) share phenotypic features with common COPD including airflow obstruction and airway mucociliary dysfunction. Although research in CF and AATD has advanced our understanding of those rare diseases, it has yet to explain common COPD. Do Alpha-1 Antitrypsin Deficiency and Cystic Fibrosis Inform COPD? Could therapies currently in use or under development for... 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

The mechanisms leading to the structural and functional defects of common COPD have not been sufficiently clarified for rational new drug development, and disease-modifying pharmacotherapy for common COPD currently is not available. In contrast to common COPD, both CF and AATD are monogenetic conditions associated with protein misfolding and gain or loss of function, and several of the mechanisms underlying their clinical manifestations have been identified. Recent research has pointed to links between CF and AATD on the one hand and common COPD on the other.

 

"Do AATD and CF inform COPD?" was recently asked at conference that brought together investigators with interest in either CF, AATD or common COPD and provided a forum for scientific discourse among them. The proceedings of the conference will be published in the Annals of the ATS Supplements.

 

The content highlighted not only phenotypic commonalities among the three conditions but also identified key pathogenic similarities, notably CFTR dysfunction, ER stress and lung cell apoptosis. Preliminary data presented at the conference suggest that agents currently reserved for the treatment of either CF or AATD could have a broader therapeutic spectrum. For example, drugs designed to restore CFTR function in CF could benefit COPD patients with or without AATD. Conversely, alpha-1 antitrypsin, which is administered for the treatment of AATD-related COPD, could benefit CF patients and COPD patients without AATD.

Feasibility and challenges of addressing this CQ or CC

As Andre Cantin, a scientific committee member and speaker at the conference put it “All participants recognized the value of comparing these uncommon genetic diseases with the more common environmental disease COPD and felt that the research communities should enhance their dialogue. All also recognized that it is a challenging exercise to think of one’s data in the broader context of other diseases outside of one’s usual area – something we do not do enough”.

This, however, is not an insurmountable challenge. The NHLBI has the resources to solicit and sponsor such research that is likely to lead to new therapeutic solutions for common COPD, a condition for which disease modifying treatment currently is lacking.

This compelling questions lends specifically to the strategic goal of promoting basic and translational research that links CF and AATD to common COPD. Importantly though, this platform could apply to additional uncommon genetic conditions and the opportunity to inform common disease.

Name of idea submitter and other team members who worked on this idea K. Erickson, A. Wanner, MD

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Goal 1: Promote Human Health

How common is Omega 3 nutritional deficiency, and how can people make sure they're getting enough Omega 3?

If I understand correctly what I've read, it may be tough to get enough Omega 3 because Omega 3 & Omega 6 compete with each other & many people consume much more Omega 6 than Omega 3.

http://www.drweil.com/drw/u/QAA400149/balancing-omega-3-and-omega-6.html

I fear the situation might be even worse for vegetarians, because from what I've read, it appears much easier to get the DHA & EPA forms of Omega 3 from animal sources.... more »

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

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

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Goal 3: Advance Translational Research

Role of anemia and iron deficiency anemia on hemoglobin A1C%

Many forms of anemia are associated with lowering HbA1C% but iron deficiency anemia modestly raises HbA1C%. The exact mechanism of anemia and iron deficiency anemia's effect on HbA1c levels is unclear. This impacts our treatment of diabetes mellitus and diabetes mellitus co-morbidity with HIV, Hepatitis C and other diseases in the presence of anemia.

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

Details on the impact of addressing this CQ or CC

Hemoglobin A1c (HbA1C%) is a widely used marker for the diagnosis and treatment of diabetes mellitus (DM). Understanding how anemia and iron deficiency anemia affects HbA1C% informs the practitioner on proper dosing of oral and insulin based medication regimens, on the impact of diet and exercise in HbA1C% and erythrocyte turnover, and the incidence and prevalence of DM in sub-populations.

Feasibility and challenges of addressing this CQ or CC

With the advent of continous glucose monitoring, studies can be set up for measuring impact of disease state, medication and lifestyle on erythrocyte and seum glucose in addition to basic science on hemoglobin/RBC changes under varying glucose concentrations

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

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