Autor: Clinical genetics

A team at the Centre de recherche Azrieli du CHU Sainte-Justine has reached a major milestone in understanding a rare and severe form of genetic encephalopathy associated with the DHDDS gene. By developing the first mouse model that faithfully reproduc…

Research from stem cell charity Anthony Nolan, published in Transplantation and Cellular Therapy, has revealed that 1 in 50 people studied has an «especially useful» gene variant that could make them a particularly desirable stem cell donor.

Research from stem cell charity Anthony Nolan, published in Transplantation and Cellular Therapy, has revealed that 1 in 50 people studied has an «especially useful» gene variant that could make them a particularly desirable stem cell donor.

Some genetic disorders have a clear connection between the affected gene product and the suite of symptoms produced. But genes do not work in isolation, and many other conditions can be bafflingly complex, as when an affected gene product affects the f…

Some genetic disorders have a clear connection between the affected gene product and the suite of symptoms produced. But genes do not work in isolation, and many other conditions can be bafflingly complex, as when an affected gene product affects the f…

Social behavior is heritable but heterogeneous. A mother reporting on her toddler learning to share, a teacher observing a schoolchild navigating friendships and peer relations, and a teenager describing their own social relations are all examples of s…

Social behavior is heritable but heterogeneous. A mother reporting on her toddler learning to share, a teacher observing a schoolchild navigating friendships and peer relations, and a teenager describing their own social relations are all examples of s…

Alzheimer’s disease is the most common form of dementia worldwide. Although the APOE ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, not all carriers develop dementia, indicating that other genetic factors can modify …

Alzheimer’s disease is the most common form of dementia worldwide. Although the APOE ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, not all carriers develop dementia, indicating that other genetic factors can modify …

In a study published in Molecular Therapy Advances a team of researchers led by Professor Haruhisa Inoue (Center for iPS Cell Research and Application, Kyoto University) and Professor Yuishin Izumi (Tokushima University) demonstrate that adenine base e…