A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …
variants and causative genes for more than half such disorders remain to be discovered …
Lactate buildup at the site of chronic inflammation promotes disease by inducing CD4+ T cell metabolic rewiring
Accumulation of lactate in the tissue microenvironment is a feature of both inflammatory
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
FPM Cremers, W Lee, RWJ Collin… - Progress in retinal and eye …, 2020 - Elsevier
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
One of the major questions in human genetics is what percentage of individuals in the
general population carry a disease-causing mutation. Based on publicly available …
general population carry a disease-causing mutation. Based on publicly available …
Molecular genetic framework underlying pulmonary arterial hypertension
Pulmonary arterial hypertension (PAH) is a rare, progressive disorder typified by occlusion
of the pulmonary arterioles owing to endothelial dysfunction and uncontrolled proliferation of …
of the pulmonary arterioles owing to endothelial dysfunction and uncontrolled proliferation of …
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
CE French, I Delon, H Dolling, A Sanchis-Juan… - Intensive care …, 2019 - Springer
Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …
[HTML][HTML] Non-syndromic retinitis pigmentosa
SK Verbakel, RAC van Huet, CJF Boon… - Progress in retinal and …, 2018 - Elsevier
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …