Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes
CC Robertson et al, Nature Genetics, June 14, 2021
We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date (61,427 participants), yielding 78 genome-wide-significant (P?<?5?×?10-8) regions, including 36 that are new. We define credible sets of T1D-associated variants and show that they are enriched in immune-cell accessible chromatin, particularly CD4+ effector T cells.
Glucose monitors revolutionized diabetes care. Now digital health startups want to bring them to the masses
K Palmer, Stat News, April 15, 2021
The flood of startups belies their belief in the opportunity for glucose monitoring to improve health, especially in the U.S., where the burden of metabolic disease is especially high. Each targets a slightly different subset of users while steering clear of any medical claims.
Pharmacogenetic-guided glimepiride therapy in type-2 diabetes mellitus: a cost-effectiveness study
C Fokoun et al, PGX Journal, March 17, 2021
With pharmacogenetic-guided therapy, the cost to avoid an episode of severe hypoglycemia event per 100 000 patients treated was €421 834. Genotyping cost was the most influential factor on the incremental cost-effectiveness ratio. In conclusion, the potential cost of CYP2C9 genotype-guided dosing for glimepiride therapy is relatively high, and associated with modest improvements with respect to the number of hypoglycemia avoided, as compared with standard dosing.
Successful incorporation of a genetic risk prediction research platform into routine newborn screening
OM Bendor-Samuel et al, MEDRXIV, March 1, 2021
Between April 2018 and November 2020, over 15500 babies were enrolled into INGR1D (Investigating Genetic Risk for T1D), a research study to identify newborns with an increased genetic risk of T1D. This project, performed as part of a T1D primary prevention study (the Primary Oral Insulin Trial, POInT), has helped to pioneer the integration of genetic screening into the NHS Newborn Blood Spot Screening Program (NBSSP) for consenting mothers, without affecting the screening pathway.
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Prediction of Type II Diabetes Onset with Computed Tomography and Electronic Medical Records.
Tang Yucheng et al. Multimodal learning for clinical decision support and clinical image-based procedures : 10th International Workshop, ML-CDS 2020, and 9th International Workshop, CLIP 2020, held in conjunction with MICCAI 2020, Lima, Peru, October 4-8, ... 2021 1244513-23
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The Comprehensive Machine Learning Analytics for Heart Failure.
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Modernizing family health history: achievable strategies to reduce implementation gaps.
Wildin Robert S et al. Journal of community genetics 2021