Hope Northrup, M.D.


Hope Northrup, M.D.

When a doctor is stumped, he or she turns to Dr. Hope Northrup.

A pediatrician and medical geneticist, Northrup is a “puzzle solver,” unlocking mysterious and hard-to-diagnose genetic conditions in ailing patients. More than just a physician, Northrup is a teacher and researcher. And, she’s this year’s Wise Woman Award recipient.

Northrup was presented the award at the Sixth Annual Nominate HER Awards celebration luncheon, sponsored by Houston Woman Magazine, on May 23 at La Colombe d’Or Mansion.

MaryJane Mudd, who nominated Northrup for the Wise Woman Award, said Northrup not only possesses brilliance in her field but also limitless compassion, boundless energy and immeasurable kindness.

“In more than 19 years of parenting our daughter (who has tuberous sclerosis), my husband and I have encountered scores of physicians from around the world,” Mudd said. “We’ve experienced some of the best and a few of the worst. It’s Dr. Northrup’s rare combination of expertise, as well as her fierce determination to improve the lives of those living with chronic illness and the families who love them, that makes her unique. 

“She is a wife, mother, cancer survivor and friend to countless families who have walked a dark and painful journey in caring for their chronically disabled loved ones. Moreover, she has gently counseled hundreds of young parents, bringing them from devastation to hope and changing their lives forever.”

During her genetics fellowship in 1987, Northrup was assigned to a tuberous sclerosis research project. She’s spent the 25 years since studying the genetic disorder, and she’s been on the front line for some stunning breakthroughs.

Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, lungs and heart and causes benign tumors to grow. Individuals affected with the disorder are born with a mutated copy of either the TSC1 or TSC2 gene, which together tell cells not to grow unless it is appropriate. If either gene does not work, the individual will develop the benign tumors in multiple organ systems. In her lab at The University of Texas Medical School, which she shares with Dr. Kit Sing “Paul” Au, they research tuberous sclerosis and spina bifida.

Their lab was part of the group that pinpointed the location of the TSC2 gene, which was found in 1993, and now she’s a co-investigator on a very large clinical trial to treat the facial lacerations caused by the disease. Trial participants put topical rapamycin on their face before bed. Rapamycin is the oral medicine used to stop the tumors from growing, but because it’s being applied directly to the face and not injected, the side effects should be minimal in this case.

“The face lesions can be devastating and disfiguring,” she said. “So, it’s exciting to be able to do things for patients, some patients that I’ve known for these 25 years. It’s just so wonderful.”

The trial, which will involve nine medical sites from around the nation and one from Sydney, Australia, is being funded with a nearly $2 million grant from the U.S. Department of Defense and should be completed within two years.Northrup spends about 30 percent of her time on research. Another 20 percent of her work time is spent teaching. 

“Really, I teach almost anybody who needs to know something about genetics and, nowadays, it seems like that’s almost everybody,” she said.

Northrup is helping to educate the next generation of doctors, so they won’t be bewildered when they need to order genetic testing or determine a genetic disease’s next step.The other 50 percent of her work week is spent in clinic at the UT Professional Building, Shriners Hospital, Lyndon B. Johnson General Hospital or Children’s Memorial Hermann Hospital seeing patients with a wide range of genetic disorders or suspected disorders. More than 85 percent of her patients are children.

“Geneticists are diagnosticians,” said Northrup, who knew from high school that she wanted to be a medical geneticist. “We are the doctors’ doctors. Other doctors send us patients because they don’t know what’s wrong with their patients. And we’re the ones who help figure that out.”

“Raising a normal child is hard enough,” said Northrup, who has two children. “Raising one with special needs takes tremendous energy, emotion and dollars. By knowing what the disease is, parents can know if other children they have would be likely to have the same disorder.” 

She continued, “Breaking bad news is something that you never get used to if you’re a good doctor. It’s difficult to tell people your child is going to be intellectually disabled.

“But you have to help them by giving them knowledge of what their child can do and help them find resources so their child can reach his full potential.

“I believe I give people hope, even when I give them bad news. And, for me, it’s invigorating to see the patients and then go back to the lab, because I’m even more determined to figure something out to help them.”

Dave Schafer is a free-lance journalist and staff reporter for Houston Woman Magazine.

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