Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

This is the second volume of our previous collection, linked here. Mental health disorders and physical diseases often co-occur, and growing evidence ...

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 in ...

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal ...

Conventional investigations of the genetic contributors to Alzheimer's disease (AD) risk and progression have ignored the role of the X-chromosome, primarily due to technical analysis limitations. To ...

A new study published in Neurology, led by Queen Mary University of London, has revealed that people of South Asian, African ...

Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from ...

Medically reviewed by Jeffrey S. Lander, MD Key Takeaways There is a hereditary form of transthyretin amyloid cardiomyopathy (ATTR-CM) caused when a mutated gene is passed from parent to child.Having ...

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 ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...