Rare diseases affect 300 million globally, posing diagnostic challenges due to limited awareness and complex genetic factors. Addressing these gaps is crucial.

Both swine and avian influenza are strains of influenza A. Just as swine flu strains tend to infect pigs, avian flu strains tend to infect birds. But the potential for influenza A viruses that ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) ...

Understanding how genes influence complex behaviors remains one of biology's most fascinating challenges. Now, however, in a recent study, researchers have compiled a comprehensive dataset documenting ...

A man with a rare genetic condition wants to name his disorder ‘Ligma’ after being approached by the National Institute of ...