Mendelian disorders are rare. While several thousand individual genes have been linked to specific disorders, there are many more genes that are involved in other diseases. However, these diseases can often provide us insight into gene function and possible therapies.
Prenatal diagnostic testing can now determine whether a fetus carries a debilitating or fatal sex-linked mutation. But with such screening, why hasn't the disease allele frequency gone down?
Some diseases are caused by the interaction of multiple genetic factors. Also important is the fact that some genes can modify the penetrance or expressivity of a phenotype.
Many human diseases are multigenic, meaning they result from mutations in multiple genes. How are the complex traits of these diseases identified and treated?
Ever griped about your height? Figuring out its origins hasn't been any easier for geneticists who are turning to high-throughput, genome-wide association studies for clues.
Did you know that genes can mask and alter the effects of other genes? Could this process, called epistasis, be a key to understanding complex conditions like Alzheimer’s disease and diabetes?
Three individuals carry the same disease-causing mutation; two suffer from the disease but exhibit different symptoms, while the third is completely unaffected. Why?
Some human disorders are also caused by alterations in chromosome structure or number (aneuplodies). Many of these can be diagnosed during prenatal screening procedures.
Could two pieces of a stone mosaic ever be identical? Of course, the answer is no--and each stone’s variation subtly contributes value to the finished work. Why should your cells be any different?
Thousands of chromosomal aberrations have been discovered in different types of cancer. But how do these various changes all hijack normal cellular processes to promote cancer?
Aneuploidies disturb the delicate balance of gene products in cells by changing the chromosome number. What are the causes and phenotypic consequences of these meiosis mishaps?
Each chromosome pair viewed in a karyotype appears to have its own distinct "bar code" of bands. What changes do scientists look for in a karyotype when diagnosing diseases and disorders?
Most diseases are the result of multiple genetic changes as well as environmental influences. Investigators are devising new ways to identify the different genes that contribute to complex disease.
Human disease networks and disease gene networks are used to organize a tremendous amount of medical knowledge. But can these tools also give us new clues regarding cures and treatments?
Can a viral infection trigger cancer? In some cases, yes. Studies show that for complex diseases such as cancer, changing one protein can have varying effects on disease expression.
Did you know that genes can mask and alter the effects of other genes? Could this process, called epistasis, be a key to understanding complex conditions like Alzheimer’s disease and diabetes?
