Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

CUP is leading the project in Punjab in collaboration with the AIIMS, Bathinda; Guru Gobind Singh Medical College and ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Research on Tourette’s indicates that the condition is strongly influenced by inherited genetic factors, with environmental factors also contributing to its development. Tourette syndrome is a ...

Ehlers-Danlos syndrome (EDS) is a genetic condition present at birth that involves problems with the body’s connective tissues. Connective tissues make up and support how the body is held together — ...

Genetic mutations and DNA changes can lead to several health conditions, ranging from mild to life-threatening disorders. Understanding their symptoms, precautions, and expert insights can help with ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

Albinism is a rare genetic condition marked by little to none of the pigment melanin, which is responsible for the color in hair, skin, and the irises of the eyes. This results in a range of very pale ...

Many risk factors for cardiovascular conditions exist, including inherited factors. Now, a validation study suggests a new ...