Abstract BACKGROUND Autoimmune polyendocrine syndrome type 1 (APS-1) is a life-threatening, autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS-1, self-reactive T cells
Abstract Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have
Significance Neurological diseases are often thought to be irreversible, including hearing loss. In this study, we found that one type of hearing loss can be
Abstract Polygenic scores (PGSs) have limited portability across different groupings of individuals (for example, by genetic ancestries and/or social determinants of health), preventing their equitable
Highlights •NPHP5-LCA patient-derived fibroblasts and RPE display abnormally elongated cilia •Outer segment protein localization is impaired in patient-derived photoreceptors •CEP290 protein reduction is observed across
The gene editor CRISPR excels at fixing disease mutations in lab-grown cells. But using CRISPR to treat most people with genetic disorders requires clearing an
Purpose To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. Methods A modified 1-13C-propionate breath test was administered to 57
Abstract Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with the antisense oligonucleotide (AON) sepofarsen. One patient who was part of a larger
One mouse is hunched over, graying, and barely moves at 7 months old. Others, at 11 months, have sleek black coats and run around. The
Trophoblasts, cells present during development in the fetus and placenta that also circulate in a pregnant woman’s bloodstream, could potentially be used for noninvasive prenatal
Grajevis Bakatunkanda’s mother knew the signs: when her son lost interest in dinner, that meant the pain was on its way. It would strike, like
Scientists are experimenting with ways to selectively target the body’s blood-making cells for destruction. Early studies in animals and people suggest that the approach could
When I visited Ricaurte, Colombia, in 2016, I was surrounded by men with long faces and prominent ears. As we spoke, they would ask repetitive
Current genetic testing methods often fall short in diagnosing pediatric patients with developmental delay, intellectual disability, or congenital abnormalities. Sometimes, this is because certain genetic
On a sunny day near Perth, Australia, two-year-old Scarlett Whitmore stares intently at her left shoulder. With absolute concentration, she raises her head to look
FDA approved Spark Therapeutics’ gene therapy Luxturna™ (voretigene neparvovec-rzyl) for treating children and adults with the rare inherited blindness disorder biallelic RPE65 mutation-associated retinal dystrophy.
In a first, a man has received a therapy aimed at editing the genes inside his body. The Associated Press reports that 44-year-old Brian Madeux,
Researchers have been studying the CRISPR-Cas9 gene-editing system as a potential therapeutic tool to modify or delete pathogenic sequences within the human genome. Now, using
Aneurysms are the abnormal enlargement of arteries and can lead to death if the artery wall bursts. Oller et al. studied patients with Marfan syndrome,
Biomedical researchers tackling genetic diseases dream of tracing a clean, straight line from discovering a mutation to understanding a disease’s mechanism to developing a curative
Most genomic studies to date have focused on linking mutations to diseases. Taking a new approach, researchers studying the genomes of apparently healthy individuals identified
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