Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
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 ...
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 ...
8hon MSN
Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical models
Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common ...
Verywell Health on MSN
What causes Huntington’s disease?
Medically reviewed by Brigid Dwyer, MD Key Takeaways Huntington’s disease is a genetic condition that is inherited in an ...
Many genetic variants linked to inherited eye disorders rarely lead to disease, meaning up to 2% of people could carry these variants without ever developing vision problems, according to a new s tudy ...
Familial Alzheimer’s disease (FAD) is a rare type of Alzheimer’s disease (AD) caused by a gene mutation passed down through families. With FAD, symptoms start when you’re young. You may have symptoms ...
Sinar Daily on MSN
Roberts syndrome: A rare genetic disorder
The number of cases in Malaysia is very small. However, the risk still exists, particularly for parents with a family history or who are known carriers of the Roberts syndrome gene.
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