Title: Associate Molecular Geneticist, Harvard Partners Center for Genetics and Genomics
Education: PhD, Harvard University, 2000; Postdoc, Harvard Medical School
Recommended by: Raju Kucherlapati
Heidi Rehm's longtime enthusiasm for genomics lies in the potential to bring bench work findings to the clinic. “I've always been interested in genetics, since I was a young child,” says Rehm. “Throughout my life, I've wanted to see the practical applications of genetics.”
After finishing her PhD, Rehm became a board certified molecular geneticist. “Basically that means I can run a molecular diagnostic lab and sign out patient cases,” Rehm says. She is involved in both research and developing diagnostic tests for diseases of hearing loss and cardiovascular disease. With the help of an NIH grant, Rehm is currently validating a hearing loss microarray to test for deafness. Earlier this year, she helped launch the first genetic test in the US for Usher syndrome, a disorder that involves both hearing loss and retinitis pigmentosa, a genetic eye condition that causes gradual blindness. “It's pretty devastating because the families initially don't realize that they have Usher syndrome, they just think that they have isolated hearing loss, which is much more common,” she says.
Rehm and her colleagues were able to translate data collected by other researchers on this disorder into clinical reality. Recent studies have shown that the ability to diagnose Usher syndrome in its early stages greatly increases the chances of being able to delay blindness through dietary changes.
Rehm has also been involved in an effort to determine the cause of an early childhood hearing loss syndrome due to a gene called Connexin 26. Rehm and her colleagues have tested hundreds of patients with hearing loss for various genes and characterized their phenotypes.
Her lab is also the first to offer a clinical screen for hypertrophic cardiomyopathy, a heart disease that causes sudden death. The test, which looks for a number of different genes, requires three screens and costs upwards of $5,000. “There are some cases where insurance companies will pay for some or part of it, but in many cases they won't,” she says. “The test is very limited in terms of who can get it — yet it's our highest volume test because there's very direct clinical utility.” But regardless of the scarcity of some these tests, Rehm is dedicated to bringing personalized medicine to patients by integrating genomics into clinical medicine and practice. “That's really mine, and the center's, major goal: realizing personalized medicine,” she says.
While Rehm is committed to getting to personalized medicine, she acknowledges that until sequencing technology gets a little cheaper, launching a test that can be afforded by patients and insurance companies is still a challenge. “It's a combination of convincing insurance companies to pay for genetic tests and bringing the technology to a point that makes it affordable,” she says.
Publications of note
In a paper entitled “Connexin 26 studies in patients with sensorineural hearing loss,” Rehm and her colleagues tested children with sensorineural hearing loss or mixed hearing loss for mutations in the entire coding region of the Connexin 26 gene. The patients that were tested had no obvious etiology for their hearing loss. The results found that Connexin 26 mutations were most common in children with sensorineural hearing loss and patients with biallelic Connexin 26 mutations had a higher incidence of milder hearing loss than in previous studies. The study, which was published in the Archives of Otolaryngology — Head & Neck Surgery recommended that children with sensorineural hearing loss or mixed hearing loss should be tested for Connexin 26 mutations early in their evaluation.