Caption: My wife Diane inspired me and my staff to volunteer to make dinner for patients and their families at The Children’s Inn at NIH. Credit: NIH Record
My blog usually celebrates biomedical advances made possible by NIH-supported research. But every August, I like to try something different and highlight an aspect of the scientific world that might not make headlines. This year, I’d like to take a moment to pay tribute to just a few of the many NIH family members around the country who, without pay or fanfare, freely give of themselves to make a difference in their communities.
I’d like to start by recognizing my wife Diane Baker, a genetic counselor who has always found time during her busy career to volunteer. When I was first being considered as NIH director, we had lots of kitchen table discussions about what it might mean for us as a couple. We decided to approach the position as a partnership. Diane immediately embraced the NIH community and, true to her giving spirit, now contributes to some wonderful charities that lend a welcome hand to patients and their loved ones who come to the NIH Clinical Center here in Bethesda, MD.
Caption: Helping to solve a medical mystery. Top left, University of Utah’s Harry Hill; Bottom, CVID patient Roma Jean Ockler; Right, Ockler showing the medication that helps to control her CVID. Credit: Jeffrey Allred, Deseret News
When most of us come down with a bacterial infection, we generally bounce back with appropriate treatment in a matter of days. But that’s often not the case for people who suffer from common variable immunodeficiency (CVID), a group of rare disorders that increase the risk of life-threatening bacterial infections of the lungs, sinuses, and intestines. CVID symptoms typically arise in adulthood and often take many years to diagnose and treat, in part because its exact molecular causes are unknown in most individuals.
Now, by combining the latest in genomic technology with some good, old-fashioned medical detective work, NIH-funded researchers have pinpointed the genetic mutation responsible for an inherited subtype of CVID characterized by the loss of immune cells essential to the normal production of antibodies . This discovery, reported recently in The New England Journal of Medicine, makes it possible at long last to provide a definitive diagnosis for people with this CVID subtype, paving the way for them to receive more precise medical treatment and care. More broadly, the new study demonstrates the power of precision medicine approaches to help the estimated 25 to 30 million Americans who live with rare diseases .