Medical News Today

Retinitis pigmentosa inheritance patterns

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...
Nature

Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning

Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder characterized by deficient vascular development in the peripheral retina 1. FEVR exhibits heterogeneous inheritance ...
Nature

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

Genomic studies based on next-generation sequencing (NGS) technology are cost-effective alternatives to determine the molecular diagnosis of patients with rare diseases of monogenic etiology because ...
The New England Journal of Medicine

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1

Panel A shows the clinical characteristics and treatments for all six unrelated patients with autosomal dominant hypocalcemia type 1 (ADH1) who received continuous subcutaneous parathyroid hormone ...
ascopubs.org

Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...
Healthline

Everything You Need to Know About Cockayne Syndrome

Cockayne syndrome is a rare genetic disorder caused by changes in the ERCC8 or ERCC6 genes. People with the disorder have many health issues, such as premature aging, that shorten a person’s life ...