Approximately 25 million individuals in the United States are affected by an estimated 7,000 rare genetic diseases. As these diseases affect relatively few people, studies researching them have been limited. However, the Rare99x Clinical Exome Challenge, set up by researchers at Washington University School of Medicine in St. Louis, is reaching out to patient advocacy groups and offering to decode the DNA of 99 individuals with rare diseases, in order to help identify the genetic mutations responsible for their illnesses.

At the university’s Genomics and Pathology Services (GPS), the researchers will sequence the patient’s DNA at no cost to the advocacy groups or to patients.

Jimmy Lin, Ph.D., research instructor in pathology and immunology, explained:

“The genomics revolution provides many of the tools that may unlock the secrets of rare diseases. We are excited to form partnerships with patient advocacy groups to apply these technologies to advance clinical understanding of these diseases.”

Rare genetic diseases range from Neimann-Pick, a metabolic disorder which can occur in infancy, to Huntington’s disease, a neurodegenrative disorder diagnosed in adulthood.

DNA sequencing is currently faster, cheaper and more accurate, as a result of advances in technology in recent years. For individuals suffering with rare diseases, researchers are now able to use DNA sequencing in order to identify the genetic flaw or flaws most likely responsible for their disease.

It is believed that several rare diseases are caused by genetic mutations in the small part of the DNA that codes for proteins, collectively known as the exome. The researchers will sequence this part of the DNA.

In early 2011, the genetic causes for 39 rare diseases were identified using exome sequencing, and according to scientists, this is just the start.

Karen Seibert, Ph.D., director of GPS and research professor of pathology and immunology, said:

“Identifying and validating gene alterations linked to disease is now enabled by the advent of new sequencing methods that allow for highly sensitive analysis of the patient’s genetic makeup.”

On February 29 (Rare Disease Day), GPS started accepting exome sequencing proposals from patient advocacy groups and the final selection of the projects will take place this summer. The proposals will be reviewed by a group of genetics experts in order to assist GPS leaders select proposals more likely to enhance care of individuals with rare diseases.

The Rare Genomics Institute, founded by Lin, is a nonprofit organization that introduces patients with rare diseases to top researchers, conducts personalized research for them and brings them in touch with the newest technology on offer. It also helps in securing funding via on online platform for patients with rare diseases.

The goal of the institute is to make gene sequencing as well as other advanced methods accessible for people suffering with rare diseases. In order to assist advocacy groups create their proposals for the Rare99x Clinical Exome Challenge, the institute is preparing online training sessions along with other activities.

Seibert highlights that GPS also offer clinical genetic tests for individuals with diseases like cardiovascular disease and cancer. Genetic variations underlying those diseases can assist physicians decide which treatment option is best for patients.

Seibert, explained:

“Exome sequencing can help identify genetic differences that affect the chances that a treatment will succeed or fail. The information from clinical genetic tests are expected to play an important role in the characterization of an individual’s disease – the first step is identifying approaches to successful treatment.”

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Written by Grace Rattue