Neurogenetics

THIS INFORMATION IS USEFUL FOR CHILDREN, ADULTS AND OLDER ADULTS
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Why Yale Medicine?
  • Being treated at the Yale Medicine Neurogenetics Program provides access to experimental new treatments that might benefit your condition.
  • Yale Medicine physicians use advanced, reliable sequencing technology and have the training and expertise to properly interpret the information they obtain.
  • Our doctors customize treatment plans to individual patients, who play a vital role in a “bedside to bench” method of scientific discovery.

Many autoimmune diseases including Alzheimer's disease, ALS, multiple sclerosis, and others have genetic underpinnings. What if scientists could use genomic sequencing on patients to figure out which genetic factors are responsible for their illness? 

Neurogenetics is a new field of scientific research that uses recent advances in genome sequencing in order to better understand the cause of brain and nerve disorders. Yale Medicine's Neurogenetics Program is one of the first institutions to pioneer whole exome sequencing—an affordable and efficient technique of pinpointing genetic factors of inherited disease. That can help patients determine the extent to which their genetic material plays a role in their condition.

Neurogenetics is also helping to advance the concept of “personalized” clinical care. With a comprehensive understanding of a patient’s genetic profile and medical history, physicians can create highly tailored treatment programs for each patient. For example, a cancer patient can now receive genome analysis of the specific mutations within a tumor. Based on those results, doctors can then assess whether cancer medications (which can be highly toxic) will even work before administering the drug.

The Human Genome Project—a global effort to map each gene in the human body—represented a major breakthrough when it was completed in 2003. Then scientists developed the technique, whole exome sequencing, which looks just at the small portion of DNA that is usually responsible for genetic diseases, which made the tool more affordable and practical.

Today, researchers can study the DNA of hundreds of patients with a given condition to search for patterns that may exist in their genomes. Thanks to those and other advancements, the field of neurogenetics has already successfully identified genes related to the development of Alzheimer’s, Parkinson’s, Huntington’s, and Multiple Sclerosis.

Clinical Trials

New treatments for many conditions are tested in clinical trials, which ultimately bring lifesaving new drugs and devices to the patients who need them most. By participating in a clinical trial, you may get access to the most advanced treatments for your condition, and help determine their benefits for future patients.