May 27, 2014

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Dr. Huda Zoghbi, professor of neuroscience, pediatrics, molecular and human genetics and neurology at Baylor College of Medicine and founding director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, was the recipient of an honorary Doctor of Medical Sciences degree at Yale University’s 2014 commencement ceremony this week. She was one of 12 individuals who was awarded an honorary degree for achieving distinction in her field.

Zoghbi, who also is a Howard Hughes Medical Institute investigator, is best known for her pioneering work on Rett syndrome, a genetic neurological disease that affects young girls (males with the condition usually die in infancy). Girls born with the disease develop normally for one or two years, but then begin to show progressive loss of motor skills, speech and other cognitive abilities.

“As a pediatric neurologist, your compassion for your patients led you to the laboratory and a career as a neuroscientist and geneticist, seeking answers to the mysteries of neurological disease,” said Yale University president Peter Salovey as Zoghbi received her degree. “You have discovered the cause of Rett syndrome, a rare and severe form of autism, and of a neurologic disorder that results in degeneration of the cerebellum. Your work has helped explain brain development and function and offers hope of finding cures for debilitating conditions. You are a role model for conducting translational research – always looking for ways to apply science to understanding disease. You are a leader in the scientific community, and we are pleased to name you Doctor of Medical Sciences.”

May 20, 2014

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Dr. Huda Zoghbi, founding director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital, has established a special fund to help young scientists launch their independent research careers.

When Zoghbi started her career 30 years ago, it was easier to pursue bold ideas. “It wasn’t as hard to get funding, and we didn’t feel the same pressures young scientists face today, Zoghbi said. “I had no research experience when I decided to learn genetics, but Dr. Arthur Beaudet took me into his lab anyway. That would be very hard to do today.”

Zoghbi, who also is a Howard Hughes Medical Institute investigator and professor of molecular and human genetics, neurology, neuroscience and pediatrics at Baylor College of Medicine, wants to support the next generation of budding scientists by giving them “room to pursue creative ideas as they’re beginning to launch careers.”

“The transition to independence is the most difficult period in a young scientist’s career,” Zoghbi said. “This kind of funding gives them a measure of freedom and signals our faith in their abilities to carve out their own niche.”

To accomplish this mission, Zoghbi has created a special fund at the NRI, one of the world’s first basic research institutes dedicated to childhood neurological diseases. The fund will provide one year of support to postdoctoral fellows who want to test bold hypotheses that would not be supported by conventional grants. When Zoghbi learned recently that she’d won the 2014 March of Dimes Prize in Developmental Biology, she decided immediately that she would add the $250,000 prize to the fund.

“This is a very prestigious award, and we are so fortunate that one of our own received this prize for her work to help advance our understanding of birth defects,” said Texas Children’s President and CEO Mark A. Wallace. “But we are even more honored and excited that this prize is being donated by Dr. Zoghbi as a generous gift to the NRI to help young scientists.”

Zoghbi’s gratitude and desire to give back is driven particularly by three individuals who had a profound impact on her career.

“Dr. Ralph Feigin recruited me to the pediatric residency program at Baylor College of Medicine and taught me clinical scholarship,” she said. “He also became a second father to me. Dr. Marvin Fishman was such an exemplary clinician that I was inspired to become a pediatric neurologist, where I met the patients who changed the course of my career. When I decided I wanted to pursue basic research, Dr. Beaudet, one of the finest geneticists in the country, took me into his lab and taught me how to be a scientist.”

Zoghbi hopes that with support from this fund, combined with hard work and protected space for intellectual freedom, many young scientists will enjoy similar success.

Click here for more information on the 2014 March of Dimes Award.

May 13, 2014

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More than 200 physicians, nurses and operating room staff attended the 5th annual Edmond T. Gonzales Jr., Surgical Research Day at Texas Children’s Pavilion for Women on May 9. The event provided a forum for researchers to unveil their work highlighting remarkable advancements in the field of pediatric surgery.

“Surgical research, both basic and clinical, is central to our core values as academic surgeons at Texas Children’s Hospital,” said Charles Fraser, Jr., surgeon-in-chief at Texas Children’s Hospital. “Today’s presentations highlight the exciting and innovative work being done by our surgical colleagues, residents and students.”

The program featured six oral presentations and 86 poster presentations spotlighting the academic efforts of the surgical faculty, post graduate trainees, nursing personnel and operating room staff. Each year, physicians are asked to submit abstracts of their research to be considered for oral presentations for Surgical Research Day and a leadership committee makes the final selection.

This year’s keynote speaker, Dr. N. Scott Adzick, presented “Prospects for Fetal Surgery.” Dr. Adzick is the C. Everett Koop profession of pediatric surgery and surgeon-in-chief at The Children’s Hospital of Philadelphia.

Lynn Sessions, J.D., a health care privacy lawyer at BakerHostetler in Houston, delivered the ethics presentation, “Mobile Technology in Health Care: Convenience or High Risk.”

The annual event wrapped up with a special awards recognition ceremony. Here are this year’s winners:

Best Oral Presentation
Dr. Fariha Sheikh, Pediatric Surgery
“Anesthesia-Induced Neurotoxicity in the Mid-Gestation Fetal Sheep”

Best Poster
Dr. Scott Rosenfeld, Orthopaedics
“Evaluation of Talo-calcaneal Coalitions Using 3D Printed Models”

Samuel Stal Research Award
Dr. Irving Zamora, third year clinical research fellow, Pediatric Surgery
Dr. Yesenia Rojas, third year basic science research fellow, Pediatric Surgery

Click here to access all presentation slides (This link will only open internally)

Surgical Research Day Photo Gallery

April 22, 2014

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Dr. Henri Justino, director of the C.E. Mullins Cardiac Catheterization Laboratory, is something of a magician when it comes to repairing a child’s heart in the least invasive way possible. He and his colleagues in the cath lab can remove a blockage, close a hole in the heart, and replace a defective heart valve using thin, flexible catheters and some deft flicks of the wrist, leaving no trace of their efforts other than a tiny incision near the patient’s hip.

One thing that has consistently bothered him, however, is the lack of available options for children with defective heart valves.

“Compared to the adult market, the pediatric market is simply too small for companies to invest in,” Justino said. “Seventy-five percent of children who need a valve replacement need a pulmonary valve, but there’s only one kind available today that can be delivered by a catheter approach and is approved for use in the pulmonary position. It’s expensive and hard to come by. We need another option.”

Justino and his partners – Daniel Harrington, Ph.D., at Rice University, and Kwonsoo Chun, Ph.D., at Baylor College of Medicine – are on a mission to create an artificial pediatric pulmonary valve that can be delivered by a catheter-based approach into the heart.

“Right now, we are working on getting the mechanics right,” Justino said. “We need a solid valve that works well, opens and closes well with every heartbeat, and is designed to last.”

Getting the valve’s mechanics right is no small feat. It must be small, thin and flexible enough to snake through a young child’s veins and through the chambers of the heart. Once it’s in the right place, it needs to expand to full size, anchor in place with no sutures or adhesive, and be durable enough to last many millions of cycles in a child’s heart, which beats up to twice as fast as an adult’s. They’re also trying to design the valve so that it can grow with a child over time.

“We’ve definitely got some challenges,” said Justino, who compares catheterization to a mechanic trying to fix the motor on a car while it’s still running. “We’re doing all sorts of procedures on the heart without ever having to stop the heart or put the patient on a heart-lung machine.”

And that’s the point – to fix the heart with as little disruption as possible.

“Open heart surgery does work very well, and it is a very good option if it’s your only option,” Justino said. “If you can get the very same result without having the chest opened, without a long scar, without using an artificial machine to circulate blood through your brain, and if you can go home the very same day instead of staying in the hospital for several days – even go to school the next day – why would you not want that?”

After three years of development, Justino, Harrington and Chun have a working prototype and are very close to completing their first milestone, which is to prove that it works in the lab setting and meets the criteria the FDA requires of valves. The next phase is animal testing: How does this device perform when it’s placed in a living organism, in contact with organs, tissue and blood? The final step, human testing, may be several years away depending on funding and how well the first two stages go.

“Our long-range goal, after all of this is complete, is to see if we can coat the valve with living tissues and various kinds of cells to make the device more biocompatible with the patient, similar to what Dr. Jacot and his team are doing,” Justino said. “But that’s a long way away. For now, our main goal is to get the best performance we can from this valve and then get it on the market – helping children – as quickly as possible.”

Cutline: Drs. Henri Justino, Daniel Harrington and Kwonsoo Chun examine the prototype valve in a high-cycle tester.

Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute (NRI), will receive the 2014 March of Dimes Prize in Developmental biology at a ceremony held in Vancouver on May 5. The award, given annually, honors investigators whose research has profoundly advanced the science that underlies the understanding of birth defects.

Zoghbi’s best known for her pioneering work on Rett syndrome, a cause she first became passionate about after encountering children with the disease during her residency. She’s since been tireless in her efforts to find the genetic cause of the syndrome. In 1999, she was successful in identifying the Rett gene, providing a definitive genetic diagnoses for the condition and allowing a biological understanding and search for treatment.

“Dr. Zoghbi’s contributions to our understanding of several entirely different neurological disorders, including her finding of the genetic basis of Rett syndrome, have opened new areas of research,” says Dr. Joe Leigh Simpson, senior vice president for Research and Global Programs at the March of Dimes. “Her work influences the entire field of autism and other neuropsychiatric disorders.”

Rett syndrome is a genetic neurological disease that affects young girls who are born with the disease and develop normally for one to two years until they show progressive loss of motor skills, speech and cognitive abilities. Males with the condition usually die in infancy.

Zoghbi will deliver the 19th annual March of Dimes Lecture titled “Rett Syndrome and MECP2 Disorders: From the Clinic to Genes and Neurobiology,” during the Pediatric Academy Societies annual meeting. She will receive the March of Dimes Prize in Developmental Biology in a special award ceremony held during the meeting. Given annually, the March of Dimes Foundation created the prize in 1995 as a tribute to Dr. Jonas Salk, a pioneer in the development of the polio vaccine.
The March of Dimes Foundation is the leading nonprofit organization for pregnancy and baby health.

April 1, 2014

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Intestinal worm infections rank among the most common afflictions of people living in extreme poverty, with reports of more than 800 million people who are harboring Ascaris roundworms in their gastrointestinal tract, and approximately 450 million people who are infected with either hookworms or Trichuris whipworms. These numbers suggest that almost every person living in a developing country is infected with worms, a consequence of the fact that the infective egg or larval stages of these parasites are practically ubiquitous in the soil.

“Each type of worm brings its own little shop of horrors,” said Peter Hotez, President of the Sabin Vaccine Institute and Texas Children’s Hospital Endowed Chair in Tropical Pediatrics.

While the World Health Organization (WHO) is leading a global campaign to “deworm” via mass drug administration at schools, Texas Children’s Hospital is pioneering the development of new worm vaccines.

According to Hotez, one of the problems with deworming is rapid post-treatment reinfection. There also is information to suggest that while the drugs work well on some worms, others such as hookworm and Trichuris whipwork are more resistant. And while deworming is one of the world’s largest global public health programs, so far less than 40 percent of the world’s children who could benefit from deworming actually receive the medicines.

“There is a lot of work to do,” said Hotez. “Global deworming needs to continue to scale-up and expand. We also need research into better drugs and vaccines, especially for hookworm.”

The Sabin Vaccine Institute and Texas Children’s Hospital Center for Vaccine Development have been working to do just that. The hookworm vaccine they developed is now in clinical trials in Brazil, and will soon enter clinical testing in Gabon. And a schistosomiasis vaccine is about to undergo phase 1 trials for safety and immunogenicity here in Texas. They are also pursuing the possibility of a vaccine that could target all of the intestinal worms.

Worms can result in severe health consequences for growing children and, in the case of hookworms, also for pregnant women. Recently, the Global Burden of Disease Study that evaluated almost all disease conditions for the year 2010 determined that intestinal worms cause as much or more global disability than better known childhood conditions such as autism, ADHD, or cleft-lip and palate. Hookworms accounted for more than two-thirds of that disability. There have also been occurrences of some unique worm infections here in Texas, including toxocariasis and cysticercosis, which is associated with epilepsy and other brain disorders. It’s important to be aware of these diseases and spread word about their dangers, in order to raise awareness and funding to fight intestinal worm infections in developing countries and at home.

“Worm vaccines would represent important new global health technologies in order to improve the health and vigor of children in the world’s poorest countries,” said Hotez. “A world free of worms would be one in which children achieve their full physical, intellectual and economic potential.”

March 4, 2014

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An article in the March 3 edition of Time magazine titled “Young Kids, Old Bodies,” raises the issue of obese children aging too quickly, and the dramatic health decline some are seeing as a result.

Dr. Siripoom McKay, a professor of pediatric endocrinology at Texas Children’s, and Dr. Sanjiv Harpavat, a pediatric gastroenterologist at Texas Children’s, were both quoted in the article, after noting the many health issues plaguing (and aging) this generation’s obese children.

“I am thinking that we will have people in their 30s, 40s and 50s who should be at their most productive,” said McKay, “who will be on dialysis or have had several heart attacks.”

Researchers are starting to see signs of accelerated cellular aging at the molecular level in obese children. The extra pounds on children can affect the body in multiple ways, including early signs of puberty, high cholesterol, diabetes, hypertension, fatty liver and cirrhosis.

In order to combat the problems, many doctors are prescribing medications that were originally only intended for adults (typically over the age of 40). Unfortunately, these drugs can present side effects in children such as stomach pains, muscle weakness and fatigue. But without the medication, some children may face worse alternatives such as heart attacks or liver transplants.

Hoping to stop (or at least slow down) one obese patient’s liver decline, Dr. Harpavat has plans to put the boy on a drug trial that’s testing whether cystamine can improve the symptoms of fatty liver. If it works, the patient may be saved from an early downward spiral in his health.

Top gastroenterologists, endocrinologists and other specialists at Texas Children’s are constantly researching improved ways to treat symptoms of child obesity and fight the signs of premature aging in this generation’s obese boys and girls. But for now, beyond medications, lifestyle strategies like a healthier diet and more exercise are still among the best ways to improve health in obese children.