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Last Posted: Oct 03, 2022
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Sickle Cell Disease and Gene Therapy — Patient and Physician Perspectives
NEJM, Youtube video, Septenber 2022

In this short documentary video from the New England Journal of Medicine (NEJM), patients and physicians partner both to highlight the experience of living with sickle cell disease and to discuss the pathophysiology of the disease and new treatment strategies, including gene therapy.

Measurement of Exhaled Volatile Organic Compounds as a Biomarker for Personalised Medicine: Assessment of Short-Term Repeatability in Severe Asthma
A Azim et al, J Per Medicine, September 29, 2022

The intra-subject and between-subject variability of each VOC was calculated across the 70 samples and identified 30.35% of VOCs to be erratic: variable between subjects but also variable in the same subject. Exclusion of these erratic VOCs from machine learning approaches revealed no apparent loss of structure to the underlying data or loss of relationship with salient clinical characteristics. Moreover, cluster evaluation by the silhouette coefficient indicates more distinct clustering.

Screening for idiopathic pulmonary fibrosis using comorbidity signatures in electronic health records.
Onishchenko Dmytro et al. Nature medicine 2022 9

Using subtle comorbidity signatures identified from the history of medical encounters of individuals, we developed an algorithm, called the zero-burden comorbidity risk score for IPF (ZCoR-IPF), to predict the future risk of an IPF diagnosis. ZCoR-IPF was trained on a national insurance claims database and validated on three independent databases, comprising a total of 2,983,215 participants, with 54,247 positive cases. The algorithm achieved positive likelihood ratios greater than 30 at a specificity of 0.99 across different cohorts.

A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.
Miller Alexandra A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9

We compared new cases detected per index case in familial hypercholesterolemia (FH) families with or without an identifiable monogenic etiology. We enrolled 52 FH probands with a pathogenic variant (FHg+) in LDLR, APOB, or PCSK9 and 73 probands without such a variant (FHg–). New case detection rate was significantly higher in FH families with a monogenic etiology than in those without such an etiology owing to greater uptake and yield of cascade testing.

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Site Citation:
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1

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