A new study suggests that the long-standing Mendelian view of genetics has some blind spots.

Genetic mutations are more pervasive than previously thought, causing cancer and other ailments. Are there possible benefits ...

Forty years ago, a postdoctoral researcher named James McGrath who would go on to spend more than three decades as a clinical geneticist and research scientist at Yale, made a discovery that advanced ...

The Finnish population has provided investigators with a rare opportunity. Most Finns descend from a small, so-called founder population of individuals, and people have primarily reproduced with ...

The study focused on so-called coding genetic variants, i.e. variants that are known to change the protein product of the gene. The results of the study, published in Nature on January 18, 2023, ...

The COVID-19 pandemic gave us tremendous perspective on how wildly symptoms and outcomes can vary between patients experiencing the same infection. How can two people infected by the same pathogen ...

Dear Readers: For most people, finding out that they have come into an inheritance is a positive experience. Not so when that inheritance is early onset familial Alzheimer's disease (eFAD). This type ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...