PKD is a genetic disorder marked by kidney cysts and progressive damage. Discover the science, treatment guidelines, and ...

In this prospective cohort study, treatment with atidarsagene autotemce (arsa-cel) significantly reduced the risk of severe ...

Niemann-Pick Disease Market Insights: Key Trends and Developments Across Different Types of Niemann-Pick Disease | DelveInsight According to DelveInsight’s analysis, the market for Niemann-Pick ...

Researchers at the University of Oklahoma are advancing the fight against inherited retinal diseases (IRDs) with new genetic ...

They had no idea that their son, Talon, would be diagnosed with autosomal recessive osteopetrosis at ... but apparently osteopetrosis disease can cause him to have excess spinal fluid.

Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, 209 Tongshan Road, Xuzhou 221004, Jiangsu, China ...

med.umich.edu Methods A retrospective chart review was performed in individuals with retinal degeneration and two likely disease-causing variants in RDH12. Results 57 subjects were enrolled from nine ...

Autosomal recessive microcephalies are collectively called autosomal ... Epidemiology-based diagnostic criteria faced with consanguinity or a positive family history of disease should be taken with a ...

At ARVO 2025, in Salt Lake City, Utah, Danielle Gauthier talked about her poster on autosomal dominant Alzheimer disease in relation to optic nerve head drusen. At ARVO 2025, in Salt Lake City, Utah, ...

Thus, in future genetic studies on F-MMD, parametric linkage analyses using large families with an autosomal dominant mode of inheritance are recommended. Genomic imprinting may be associated with the ...

Cockayne's syndrome is an autosomal recessive disease, symptoms of which include growth retardation, deafness, dysmyelination in white matter, and retinal and Purkinje's cell degeneration.