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

In the first part of this series, we explored how early genetic screening and gene therapy transform the lives of newborns ...

Helmholtz Munich and the University of Sydney have identified biological mechanisms that are shared across psychiatric ...

Researchers identified over 8,000 causal relationships between diseases using scientific literature and real-world patient ...

A new international study has revealed that most protein-level differences between men and women aren't due to genetics alone ...

Five families with children who have the newly discovered rare condition, ReNU syndrome, recently gathered in a D.C. park.

This is a historic moment in decades-long efforts to appropriately address the needs of the hundreds of millions worldwide ...

Provide Comprehensive and Integrated Care for Rare Diseases in the MENA Region In a bid to advance healthcare access for patients with rare and genetic diseases, Burjeel Holdings, a leading super ...

Researchers from Mass General Brigham, Harvard Medical School and Duke University School of Medicine have identified nearly 300 genetic disorders ... fetal findings list" could improve the ...

Prince Frederik of Luxembourg died from a genetic disease ... a mitochondrial disease may miss growth milestones, like speaking or walking by a certain age. To view a list of other symptoms ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide ...