A congenital birth defect doctors can't explain. A strange combination of symptoms physicians haven't seen before. Or a rare blood disorder with only one or two known cases. These situations aren't as uncommon as one might think. Despite the impressive state of medical technology, numerous genetic diseases remain a mystery.
The David Geffen School of Medicine at UCLA is working to change that. As one of six clinical sites chosen to participate in the Undiagnosed Diseases Network (UDN), the academic community is set to provide comprehensive testing for individuals suffering from a unusual disorder, and collaborate with the network to better understand what causes these genetic conditions.
The program's co-principal investigator, Katrina Dipple, MD, PhD, helped to spearhead an application process that secured the school's spot in the network and a $7.2-million grant from the National Institutes of Health (NIH). "My colleagues and I were already doing similar work through UCLA's Medical Genetics Clinic," says Dr. Dipple. "Now we can help more people."
Rare genetic diseases aren't so rare
A "rare disease," according to the National Organization for Rare Disorders (NORD), is one that affects fewer than 200,000 people in the United States. Because many different disorders fall into this category, one-in-10 people may have a disease of this nature.
Many of these genetic diseases are not well understood and are hard to diagnose. In 2008, the NIH launched its Undiagnosed Diseases Program, which has received more than 3,100 applications and evaluated 800 patients. But only 25 percent have received diagnoses.
With the new network, NIH has enlisted a series of top medical institutions that can evaluate more patients and pool their collective data.
"To see lots of doctors and still not have a diagnosis takes a physical, emotional and financial toll," says Dr. Dipple. "By combining new technology with genomic medicine, we hope to shorten the medical odyssey for these individuals and their families."
The UDN will also gain a better overall understanding of genetic diseases. "Say we find a new gene that causes a disorder," she suggests. "Another site might have a patient with mutations in the same gene, but who presents different symptoms. We would understand more about that disease by having more than one patient with it."
How the program works
To qualify, patients must be at least one month old, able to travel and carrying a yet-undiagnosed disease despite extensive medical evaluation. "These people have already seen quite a few doctors. They're the puzzles people can't figure out, similar to patients on the TV show 'House.' Except we're nicer than he is," she jokes. "That's how I describe it to my family."
Patients submit applications online to the UDN's coordinating center, which sends them to the closest site or the institution with the most relevant expertise. "When an application comes to UCLA, we review the case and request medical records. If we accept the patient, we go through a consenting process and send a kit so the patient and a couple family members can have blood drawn for genetic testing."
Finally, patients will visit UCLA for five-to-seven days of genetic and radiographic tests, and hopefully to receive a proper diagnosis.
The David Geffen School of Medicine at UCLA began accepting applications in September for its involvement in UDN, and is in various stages of the consenting process with eight patients. Dr. Dipple looks forward to meeting the first patient, adding that medical students might also have chances to participate. "Some students elect to do a clinical genetics rotation in their third or fourth year, so they would possibly work with us. We are also open to having students do summer research projects related to the program."
By Taylor Mallory Holland