Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis -- a long, exhausting process that takes its toll on children and their families. Almost half ...

Craniosynostosis syndromes are developmental disorders that cause an abnormal shape of the skull due to the premature fusion of cranial sutures. Enormous progress has been made recently in ...

Background: The use of microarray-based comparative genomic hybridization has allowed the genetic diagnosis of some conditions before their full clinical presentation. This “genotype-first” diagnosis ...

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a ...

Artificial intelligence (AI) machine learning is increasingly being used as a diagnostic tool for health care, biotechnology research, medical care, and life sciences. A new study published today in ...

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a ...

A research team has developed an innovative screening test. With a blood sample from the expectant mother, they can scrutinize all the genes in the fetus. The findings indicate that the new test, ...

Rett syndrome is a rare neurodegenerative disorder that almost exclusively affects girls. It is typically diagnosed in babies between six and 18 months of age, when the first symptoms begin to appear.

Rising healthcare costs and changing coverage increase financial burdens for individuals with hereditary conditions like ...

Relutrigine targets patients suffering from severe, genetic epilepsy syndromes. ・To date, no approved therapy specifically ...

In cancer, cells grow and divide at an abnormally fast rate. Cancer may develop because of alterations to the cell’s genes. These changes may be hereditary or caused by environmental factors. Usually, ...