exome sequencing

An Opportunity to Participate in Important Genetic Research

If you spend much time in the facial pain community online, you’ll probably notice the many references to facial pain within same families. You’re not alone in noticing that phenomenon. Scientists at Yale University have noticed it too, and they believe that there may be a genetic factor at work.

Meet Kristopher Kahle, MD, PhD of Yale University School of Medicine.

The Researchers and the Research

Dr. Kahle is an Assistant Professor of Neurosurgery and Pediatrics and Cellular and Molecular Physiology at Yale University School of Medicine, and Director of Neonatal and Congenital Anomaly Neurosurgery in the Division of Pediatric Neurosurgery. He is an attending physician at Yale-New Haven Hospital and the Yale-New Haven Children’s Hospital.

Dr. Kahle is also the head of the eponymous Kahle Lab at Yale School of Medicine. He is the principle investigator in an ongoing research project known as the Exome Sequencing Study of Trigeminal Neuralgia, with hopes of identifying the genetic determinants of TN.

I had the pleasure of speaking with Daniel Duran, MD, postdoctoral associate and Kahle Lab researcher, to discuss the project.

Drs. Duran and Kahle, in the lab at Yale

Genetically speaking, trigeminal neuralgia cases are considered either “sporadic” or “familial.” Sporadic cases are those which occur in only one person in a family. Familial cases are those for which multiple people in a family are affected. According to Dr. Duran, the rate of occurrence of familial trigeminal neuralgia may indicate a genetic determinant. They believe that there is sufficient evidence to warrant further investigation and thus, the Exome Sequencing Study of Trigeminal Neuralgia was conceived.

How the Study Works

Eligible participants are sent very simple DNA collection kits to complete and return to the Kahle Lab. If the affected individual’s parents are available to provide DNA samples, they also receive collection kits. Siblings, especially those with trigeminal neuralgia, can be sent collection kits to complete and return as well. Once the collected samples arrive at Yale, Drs. Kahle and Duran and their team look at each participant’s entire genetic code, focusing on the parts that make proteins. Very simply, they hope to identify any variations or alterations in the code which are common and correlated which points to a genetic determinant.

Those participants whose parents are available to provide DNA samples are known as “trios.” Dr. Duran says that they are aiming to collect samples from 100 trios. The study has been going on for about a year and will continue until they reach the minimum number of samples necessary to conduct a meaningful examination of the genetic trends.

Want to Participate?

Chances are very good that you are eligible.

The current inclusion criteria are a formal diagnosis of trigeminal neuralgia that can’t be explained by other diseases or conditions like Multiple Sclerosis, trauma to the face or head, tumors compressing the trigeminal nerve or certain infections that can trigger nerve pain.

To clarify:

  • You do NOT have to have a family history of facial pain to participate.
  • You do NOT have to live anywhere near Yale University to participate.

If you fall into the above parameters and you wish to participate, please do the following:

  • participants who DO have a family history of trigeminal neuralgia, please send a message to this email address.
  • participants who DO NOT have a family history of trigeminal neuralgia, please send a message to this email address.
  • PLEASE DO NOT COMMENT ON THIS POST TO REQUEST TO PARTICIPATE. CLICK ONE OF THE ABOVE LINKS TO REACH THE RESEARCHERS.

Collection kits consist of a questionnaire (seen here) and swab kit for DNA collection.


Special Note to Pediatric Patients

As mentioned, “trios” are ideal. Because pediatric trigeminal neuralgia patients are more likely to have two living parents than those of a more typical age of TN onset, pediatric patients are particularly encouraged to participate in this simple, non-invasive study.