Neuromuscular disorders (NMDs) are a diverse group of conditions that are a major cause of disability and/or mortality worldwide [1]. Classification of NMDs is challenging and is highly dependent upon ...

Autosomal recessive ataxia is characterized primarily by gait and balance problems, truncal swaying and frequent falls. Speech dysfunction and abnormal movements of eyes and limbs are other commonly ...

Al-Shifa Trust Eye Hospital has launched Pakistan’s first ophthalmic genetics gene-disease variation database. The initiative is designed to support diagnosis and treatment of inherited eye disorders ...

A comprehensive analysis of 173,303 genomes from Pakistan, published today in Nature, is upending how scientists understand ...

A new study has provided new insights into the the genetic overlap among some psychiatric disorders, and can help explain why it’s not uncommon for several of these disorders to arise in the same ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By analyzing genetic data from more than six million people, researchers uncovered ...

Psychiatric disorders, such as bipolar disorder (BD), major depressive disorder (MDD), schizophrenia and anxiety disorders, adversely affect the daily functioning and well-being of millions of people ...

Genome-wide association studies identify genetic overlap among disorders, providing evidence that their distinctions may be misleading One major difference between psychiatric disorders and purely ...