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 ...
Many genetic variants linked to inherited eye disorders rarely lead to disease, meaning up to 2% of people could carry these variants without ever developing vision problems, according to a new s tudy ...
Not all inheritance is genetic. Proteins, which can adopt different conformations, may offer another way for information to be passed between generations. The University of Oregon’s David Garcia and ...
The genotype of an organism is inherited from its parents through the process of reproduction. During sexual reproduction, each parent contributes half of the genetic material to the offspring, ...
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 ...
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 ...
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 ...
I recently underwent genetic testing to see if I had any mutations that could be associated with an increased cancer risk. When I received my genetic testing kit in the mail, I quickly opened the ...