“Great science requires a lot of courage. Finding new paths means going into the unknown.”
– Dr. Huda Zoghbi, Director, Jan and Dan Duncan Neurological Research Institute
For the first several months of her life, Kayla Schwartz was a perfectly healthy baby girl. But when she was about nine months old, her parents, Roberta and Lee, began noticing the first unsettling signs of potential developmental delay. She couldn’t keep her food down. She didn’t seem to want to crawl. Some advised them just to wait, because surely she would grow out of it.
Kayla’s initial diagnosis was inconclusive, but she began therapy at Texas Children’s to gain a foothold against the symptoms she was exhibiting. It was during this time that the Schwartz family finally received a definitive diagnosis: Rett syndrome.
“At the time, most of the available information revolved around extreme cases — girls in wheelchairs, with breathing problems and gastric tubes, many of whom didn’t make it through adolescence,” Lee said. “When you first face that, it seems overwhelming.”
Then came a phone call that gave them a new perspective. On the line was Dr. Huda Zoghbi, who spoke to them about the future — a future not of desperation, but of hope — because of the research that was happening in the field.
Over the next several years, Texas Children’s became a partner to Kayla and her family, and by age three, she was walking. Today, she enjoys school, has many friends, wants to be a fashion model and is living a meaningful life. Through every milestone, Dr. Zoghbi has been there for the Schwartz family, reassuring them and giving them hope about the possibility that one day the neural pathways in Kayla’s brain can be restored.
Charting a Path through the Unknown
Neurological disorders. They have names like Alzheimer’s, Parkinson’s, autism, epilepsy, Rett syndrome and Batten disease.
The symptoms and severity of the diseases vary, ranging from merely disruptive to utterly debilitating. Some of them rob the patient not only of their motor function and physical abilities, but also of their personality and identity.
To date, there have been more than 600 distinct neurological disorders identified, with more being discovered every year. Determining the root causes for specific disorders remains a monumental challenge. Less than a generation ago, there was little hope at all for treating most of them, with many academic institutions conducting siloed research with limited or no collaboration whatsoever between scientists and clinicians.
But much can change in a short time. Today more researchers are studying these diseases than ever before — looking for answers to previously unasked questions, searching for the tools to unlock the secrets of these diseases, develop new therapies and eventually find cures.
And standing at the forefront of this movement is the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
Bringing the Very Best Together
“The Jan and Dan Duncan Neurological Research Institute doesn’t belong just to Texas Children’s Hospital. It belongs to the world.”
– Mark A. Wallace, President and CEO, Texas Children’s Hospital
The Jan and Dan Duncan Neurological Research Institute (NRI) was made possible by a succession of generous and transformative gifts to Texas Children’s, the first from Cynthia and Tony Petrello, and then from Jan and Dan Duncan, and most recently from Charif Souki.
When the NRI opened in 2010, the 13-story building came equipped with cutting-edge laboratories, open-concept workspaces, meeting rooms, vivarium space and nine shared core facilities that provided investigators with access to tools and technologies too costly for individual labs to afford.
Since that day, the NRI faculty has studied diverse problems, addressing neurodevelopmental, neurological and neuropsychiatric questions using cross-species and interdisciplinary approaches. At the center of it all are the patients, who inform both research and clinical study.
In the six years since the doors opened, the outcomes have been nothing short of extraordinary.
The remarkable work of the 25 accomplished faculty and 250 trainees and lab personnel who have been brought together there has surpassed the most ambitious expectations, earning the NRI international esteem in the scientific community. Ask any researcher, scientist or clinician at the NRI what sets it apart from other research institutes around the world, and they are likely to give some variation of the same answer: The NRI was specially and carefully designed to foster conversation and collaboration among the faculty and trainees who work there — and all thanks to the vision and leadership of Dr. Huda Zoghbi.
There are geneticists, biomathematicians, biochemists, structural biologists, molecular biologists, neuropathologists, theoreticians and many more, all working together alongside clinicians, sharing data and spurring on dynamic interactions and new discoveries.
“I can honestly say that this is the best environment I’ve ever been a part of,” said Dr. Roy Sillitoe, director of the Neuropathology Core Laboratory at the NRI. “The interactions here are organic. Immediately next door to my office is a neurosurgeon. Next door to him is a human geneticist. Next door to him is a molecular biologist. In that one hallway, we have people coming from very different areas trying to understand neurological disease, specifically pediatric neurological disease, and our collective interests and specialties all come to fruition in the lab. There’s no single place I’ve ever seen where you can accomplish so much.”
“There’s not a single day that goes by where a new gene is not identified or a new mechanism is now being understood,” said Dr. Christian Schaaf, a medical geneticist at the NRI. “Being here speeds up the whole process of discovery.”
Additionally, the NRI leads a collaborative, multi-institutional effort within the Texas Medical Center with institutions such as MD Anderson Cancer Center, UT Health and Rice University.
“It’s a unique setting in an academic world where we get to pair up with such diversity, and especially including a clinical facet to the research institution,” said Dr. Benjamin Arenkiel in the Department of Molecular and Human Genetics at the NRI. “You get this idea that anything is possible.”
NRI Discoveries and Breakthroughs
Since the NRI opened in 2011 …
- A team of researchers headed by Dr. Ignatia Van Den Veyver, investigator at the NRI and director of Prenatal and Reproductive Genetics at Texas Children’s Pavilion for Women, has discovered that mutations in an early embryonic development gene may provide some clue to unexplained female infertility and recurrent pregnancy loss.
- A 2016 study published from the laboratory of Dr. Huda Zoghbi outlined a key regulator of two important proteins, alpha-synuclein and tau, that have been implicated in various neurodegenerative diseases, including Parkinson’s and Alzheimer’s.
- A study carried out by a team of researchers led by Dr. Christian Schaaf has linked the ABL1 gene, well known for its association with cancer, to a genetic disorder that causes heart defects and skeletal conditions.
- A large study led by Dr. Joshua Shulman has revealed five strong candidate genes for Parkinson’s disease. Researchers performed genetic testing and analysis on 1,148 unrelated Parkinson’s cases before narrowing their search based on functional relevance.
- A study from the lab of Dr. Benjamin Arenkiel recently brought to light the fascinating possibility that activating or inhibiting the neurons in the cholinergic basal forebrain feeding circuit could help regulate food addiction and food aversion behaviors.
The Jan and Dan Duncan Neurological Research Institute
A Promise Campaign Priority
“Our promise is to advance research of neurological and neuropsychiatric disorders and ultimately alleviate the impact of these devastating disorders on human lives.”
The NRI’s overwhelming success in just six years has positioned Texas Children’s Hospital to take the next step of translating discoveries made in the laboratory into patient therapies. Through the Promise Campaign, philanthropy will help us move in this direction by providing endowment support that will secure the future of the NRI and help recruit and retain leading experts, expand existing lab space and add state-of-the-art equipment.
To learn how you can support the NRI and other Promise Campaign priorities, please visit texaschildrens.org/promise.
“Philanthropy is absolutely crucial. It allows researchers to think outside the box and do things a little more boldly. We can tackle bigger questions. And in Houston, I have seen the community really embrace research, and I am always impressed by that.”
– Dr. Benjamin Arenkiel
Dr. Huda Zoghbi
Dr. Huda Zoghbi was born and raised in Beirut, Lebanon, in 1955. In 1975, she began her medical training at American University of Beirut. During her first year in school, civil war erupted. It soon became too dangerous for her to make even the short trip to campus, so she and fellow students lived on the campus instead.
After her brother was injured, her family insisted they leave Lebanon to live with relatives in the United States. She performed exceptionally well at Meharry Medical College, graduating in 1979. But perhaps because of her unorthodox background — having come from overseas after only one year in medical school and starting off-cycle at Meharry — Dr. Zoghbi was passed over by several Ivy League medical schools.
Dr. Ralph Feigin, then physician-in-chief at Texas Children’s Hospital, saw something truly special in her and recruited her. It was during this time that she was drawn to the study of neurological disorders. But she found herself heartbroken by the children she was seeing in the clinic.
So she began considering another option: research. She went to Texas Children’s own Dr. Arthur Beaudet, a giant in the world of genetics, and asked if she could work in his lab. This set her on the path to becoming a brilliant physician-scientist. As a researcher, she was able to use her unique clinical perspective to enrich her work and the lives of patients.
In 1993, Dr. Zoghbi co-discovered the gene for spinocerebellar ataxia, a devastating disease that affects balance and speech … and then the Math 1 gene causing deafness … and then the gene responsible for Rett syndrome, the second-leading cause of intellectual disabilities in females. These would prove to be watershed discoveries that would reveal many of the mechanisms for other neurological diseases.
Today, Dr. Zoghbi is not only director of the Jan and Dan Duncan Neurological Research Institute, she is one of the world’s leading neurogeneticists.