Successes

Successes

The Duke Center for Human Genetics research teams have successfully identified genetic links for more than 50 diseases.

As reported in Nature Genetics in 2007, a newly identified gene may hold the promise of guiding future research into therapies for multiple sclerosis (MS) in what its discoverers say is the first major genetic advance in 30 years for understanding this nervous system disease. While it has been known that there is a strong genetic underpinning for MS, only genes within a region of chromosome 6 have previously been implicated in the disease. The previously discovered MS genes were all located in an area of chromosome 6 involved in the major histocompatibility complex, which is important in the regulation of the immune system. The gene variation discovered in the most recent research is located on chromosome 5, and is involved in guiding the production of interleukin-7 receptor alpha (IL-7R), which is a critical receptor for the development and growth of key immune system cells. The study, led by CHG and fellow international researchers and genomics experts, is the first comprehensive study investigating the genetic basis of MS.

Our internationally recognized team of neural tube defect (NTD) researchers recently completed the first genomic screen of NTD families. Our goal is to study genetic and environmental influences for spina bifida and other NTDs. The CHG has implicated genomic regions as harboring genes predisposing a person to these common birth defects.

In 2005, CHG researchers led a team that discovered that the complement factor H gene (CFH) strongly influences the risk of developing age-related macular degeneration, a leading cause of vision loss in the elderly.

A gene responsible for one form of chronic kidney disease was discovered by CHG researchers in 2005. The disease, called familial focal segmental glomerulosclerosis (FSGS), can lead to complete kidney failure and affects 20 percent of patients on dialysis. The finding could lead to more effective treatments, according to the researchers. By examining the genetic makeup of one large, multi-generational family with a dominant form of FSGS, the researchers linked a mutant form of the gene called Transient Receptor Potential Cation Channel 6 (TRPC6) to the disease. What's more, because the gene differs in function from those earlier implicated in FSGS, the finding represents a novel mechanism of kidney damage.

Variations in a gene that acts as a switch to turn on other genes may predispose individuals to heart disease, an international team of researchers led by Duke University Medical Center scientists discovered in 2006. Further study of this master switch -- a gene called GATA2 -- and the genes it controls may uncover a regulatory network that influences whether a person inherits coronary artery disease, the most common form of heart disease in the Western world. The discovery also may lead to development of genetic tests to predict an individual's risk of developing coronary artery disease.

In 2006, Duke researchers identified gene mutations that cause trichotillomania , a psychiatric disorder that triggers people to compulsively pull their hair. The disorder affects between 3 percent and 5 percent of the population and is considered an impulse control disorder. Patients with trichotillomania have noticeable hair loss or patches of baldness, but they often mask their habit. The Duke team found two mutations in a gene called SLITKR1 that were implicated in the disease. While the mutations account for only a small percentage of cases, the findings are significant because they validate a biological basis for mental illnesses.

In 1993, CHG researchers led a team that discovered the first major genetic risk factor for a common form of Alzheimer disease. They found that people who inherit a version of the apolipoprotein-E gene (ApoE) have a significantly higher risk for developing Alzheimer's. This finding has not only been replicated in hundreds of studies, but its success initiated today's enormous research efforts in finding similar genes for many common medical disorders. The importance of ApoE as a major gene controlling how the nervous system responds to stress is well established. ApoE has been shown to exert similar effects in Parkinson disease and has even shown importance in the neurologic prognoses of patients undergoing cardiac bypass.

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