April 26, 2017

Seven surgeons in the Texas Children’s Hospital Department of Surgery received Faculty Awards for Excellence in Patient Care from Baylor College of Medicine. The awardees will be formally recognized at the Baylor Annual Education Awards Ceremony on Thursday, May 18.

There are three categories of awards to recognize clinical excellence: Early Career, Star Award for mid-career faculty and Master Clinician for senior faculty members. The Early Career and Star Awards replaced the Rising Star Awards, which were given in previous years.

“I am immensely proud of the clinical expertise and accomplishments of our surgeons at Texas Children’s – including those who received recognition this year and those who will be honored in upcoming years,” said Dr. Charles D. Fraser, Jr., Texas Children’s surgeon-in-chief.

Early Career Awards

Four Texas Children’s surgeons received Early Career Awards: Dr. Carlos Mery from Congenital Heart Surgery; Dr. Laura Monson from Plastic Surgery; Dr. Bindi Naik-Mathuria from Pediatric Surgery; and Dr. Julina Ongkasuwan from Otolaryngology.

Early Career Award recipients are full-time instructors or assistant professors who spend at least 50 percent of their time engaged in patient care and have been in clinical practice as a Baylor faculty member for between two and five years.

The review committee examines applications for clinical excellence and expertise, a consistently high quality of patient care, professionalism and communication, leadership potential, the ability to work effectively with faculty, staff, students and administrators, and continuous service to the Baylor community.

Star Awards

Star Awards were given to Dr. Jeffrey Heinle from Congenital Heart Surgery, Dr. Chester Koh from Urology and Dr. Allen Milewicz from Pediatric Surgery.

Star Award recipients are full-time assistant professors, associate professors or professors engaged in patient care for at least 50 percent of their time, who have at least six years of clinical service as a Baylor faculty member. Faculty members who have transferred from other institutions and have comparable years of service are eligible for the award after three years as Baylor faculty members.

The Star Award committee bases decisions on similar criteria to the Early Career Awards adding the factors of local, regional or national reputation and clinical innovation.

“The dedication to their patients and families shines through for these Early Career and Star Award recipients,” said Dr. Larry Hollier, associate surgeon-in-chief for clinical affairs at Texas Children’s. “They set wonderful examples for their surgical teams, fellows and residents to follow.”

April 18, 2017

On April 10, more than 600 guests attended the Forum Luncheon at the Marriott Marquis in downtown Houston to meet internationally renowned neurogeneticist Dr. Huda Zoghbi and learn about the remarkable breakthroughs being made at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital and Baylor College of Medicine.

President and CEO Mark A. Wallace delivered opening remarks including a video documenting the unfolding story of the NRI and how Texas Children’s bold vision of establishing the world’s first basic research institute dedicated to the study of childhood neurological diseases became reality as a result of the hospital’s incredible leadership which he describes as Texas Children’s “secret sauce.”

ABC 13 Anchor Melanie Lawson moderated the one-hour long Q-and-A discussion with Zoghbi, director of the NRI. In addition to learning about Zoghbi’s early career before making the transition to neuroscience research, Zoghbi shared her collaborative vision for the NRI and spotlighted some of the exciting new discoveries emerging from the numerous labs at the NRI.

“To understand a disease, you have to know the root cause,” Zoghbi said. “Once you know the root cause, you can then create an animal model of the disease, dive into the mechanism and find an entry to a therapeutic manipulation. Genetics is one way to find the root cause of disease.”

Since the NRI opened in 2010, Zoghbi highlighted several recent discoveries that have opened new doors for developing therapeutic targets for various neurological diseases:

  • Dr. Benjamin Arenkiel found a small group of cells in the basal forebrain play a major role in the control of appetite. In mouse studies, when these cells are manipulated a certain way, the animal either eats constantly and becomes obese or eats little and loses weight. Arenkiel’s discovery paves the way for developing new therapies to treat obesity and other eating disorders in children and adults.
  • In collaboration with Drs. Juan Botas and Zhandong Liu, NRI researchers have identified a potential new strategy to prevent Alzheimer’s disease. They found that an over accumulation of the protein tau can make the brain vulnerable to degeneration. By developing new drugs to keep tau at levels that are not toxic, this could either prevent or delay the development of Alzheimer’s and other degenerative diseases caused by toxic tau accumulation.
  • Drs. Andrea Ballabio and Marco Sardiello discovered the function of a gene called Transcription Factor EB that helps cells clear up accumulated proteins, which is important for nerve cells to survive. Based on this scientific breakthrough, new clinical trials are underway that will help slow down or stop the progression of disease in patients with Batten disease by improving the clearing function of the brain.
  • Drs. John Swann, Anne Anderson and their team found that there are many molecular and biochemical changes that drive the growth and over-activity of brain cells in epilepsy patients. They were able to define a way to treat these seizures based on biochemical studies in cancer, which has helped to eliminate uncontrollable seizures in children.
    The NRI Forum Luncheon also included inspirational stories from several patient families who were present at the event, and who have benefitted from the life-altering research emerging from the NRI to improve the outcomes and quality of life for patients with a myriad of neurological disorders.

Prior to this event, Texas Children’s Development also hosted a reception to unveil a photography exhibit by Karen Sachar honoring the special needs children in the Greater Houston community. The reception included a short presentation from NRI researcher Dr. Christian Schaaf.

Click here to watch the video of the entire Luncheon Forum program.

Click here to watch specific patient story videos that were featured at the event.

April 4, 2017

The Baylor College of Medicine Department of Pediatrics and Texas Children’s Hospital hosted the 2017 Pediatric Fellows’ Research Symposium on March 21 at the Pavilion for Women Conference Center.

Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute, provided the keynote research presentation, “Protein Levels and Neurological Diseases: Insights and Opportunities.” Besides advancing our understanding of the genetic causes of spinocerebellar ataxia and Rett syndrome, she has been instrumental in other important neurological medical breakthroughs including her recent discovery of how lowering toxic levels of tau in the brain could potentially lead to new therapies to reverse or prevent Alzheimer’s disease.

Dr. Will Parsons, director for the Center for Precision Oncology at Texas Children’s Cancer Center, followed with the keynote scholarship presentation, “Precision Oncology: Deconvoluting One Trainee’s Path from the Bench to the Clinic.”

This year’s research symposium included more than 135 poster presentations from pediatric fellows and included an awards presentation featuring the top four abstracts submitted this year:

  • Bile duct ligation induces ATZ globule clearance in a mouse model Alpha-1 antitrypsin deficiency

Dr. Zahida Khan

  • Respiratory severity score on day of life 15 is higher in premature infants requiring mechanical ventilation at day of life 60

Dr. Matthew Maruna

  • Pharmacogenomic association with neurotoxicity in Hispanic children with acute lymphoblastic leukemia (ALL)

Dr. Claire McClain

  • Inflammatory regulation promotes angiogenesis in chronic renal diseases models

Dr. Xinyi Wang

A fellows’ workshop session was offered as well. Dr. Eric Williams, associate professor of Critical Care at Baylor and Texas Children’s chief medical information officer, led the session on Innovation.

The symposium is an important forum for sharing research results and achievements, as well as for networking and establishing new collaborations. The symposium provides a venue to address topics that may be relevant to the trainee’s career development as they transition to more advanced or faculty positions.

March 29, 2017

Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s and Baylor College of Medicine, is being honored by the Gairdner Foundation with the 2017 Canada Gairdner International Award for seminal discoveries and contributions to biomedical science. This award recognizes some of the most significant medical discoveries from around the world.

Zoghbi, who also is professor and Howard Hughes Medical Institute Investigator at Baylor, is one of five individuals given this award. She is being recognized for her work surrounding the discovery of the gene responsible for Rett syndrome.

After years of treating patients, Zoghbi began to focus on finding the genetic causes of the disease, which strikes after a year of normal development and presents with developmental regression, social withdrawal, loss of hand use and compulsive wringing of the hands, seizures and a variety of neurobehavioral symptoms.

Zoghbi identified that mutations in MECP2 are the cause of Rett syndrome, revealing the importance of MeCP2 for the function of various neuronal subtypes. Her work showed just how sensitive the brain is to the levels of MeCP2 and that doubling MeCP2 levels causes progressive neurological deficits. This disorder is now recognized as MECP2 Duplication Syndrome in humans.

Her recent work showed the symptoms of adult mice modeling the duplication disorder can be reversed using antisense oligonucleotides that normalize MeCP2 levels.

The discovery of the Rett syndrome gene provided a straightforward diagnostic genetic test, allowing early and accurate diagnosis of the syndrome. It also revealed that mutations in MECP2 also can cause a host of other neuropsychiatric features ranging from autism to juvenile onset schizophrenia. Further, it provided evidence that an autism spectrum disorder or an intellectual disability disorder can be genetic even if it is not inherited.

Her discovery opened up a new area of research on the role of epigenetics in neuropsychiatric phenotypes. Her use of an antisense oligonucleotide to lower MECP2 levels provides a potential therapeutic strategy for the MECP2 duplication syndrome and inspires similar studies for other duplication disorders.

Zoghbi will be presented her award at a gala in Toronto on Thursday, October 26. Each award carries an honorarium of $100,000 to support continued research.

February 21, 2017

The Clinical Research Center/Research Resources Office will present the Clinical Research Award for First Quarter 2017 to Dr. Beth Carter, Department of Pediatrics-Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine.

The award was established by the Clinical Research Center in collaboration with the Research Resources Office to recognize and honor individual contributions to protecting the best interest of the research subjects and compliance with applicable rules and regulations.

Dr. Carter’s research activities in the CRC focus on pediatric short bowel syndrome, intestinal failure, and the clinical treatment of these conditions. Dr. Carter is a leader in the development of new approaches to the treatment of pediatric short bowel and has been a significant contributor to the recent pediatric clinical trials of teduglutide, a glucagon-like peptide 2 analogue that is under investigation for the use in moderate to severe short bowel syndrome patients that are failing to progress in regards to enteral advances and/or TPN (total parenteral nutrition) weaning.

February 7, 2017

2817SohailShah175Pediatric surgeon Dr. Sohail Shah was recently awarded the Texas Children’s Hospital Auxiliary Denton A. Cooley Fellowship in Surgical Innovation award for 2016-2017. The award is for $75,000 and is given to a physician whose surgical research focuses on innovative ways to help children and to save lives.

Shah will use his reward to create, implement and evaluate an innovative health care delivery model that engages patients and families in the choice of how they receive postoperative care (in-person, telephone, tele-health, or as needed).

To learn more about Shah and his research and clinic areas of expertise and interest, click here.

January 17, 2017

11817NEURO640“My 5-year old daughter is such a cute, vivacious little girl who lights up a room,” said mom Evonia Dunlap. “When Bristol was born, she was perfectly healthy but by the time she was 3 months old, she was failing to reach her milestones and began showing worrisome symptoms.”

Bristol could not lift her head up or sit upright, her body was unusually floppy and flexible, and her left eye began turning inward, even though her vision was fine. As Bristol grew older, she was slow to crawl, stand and walk, and had difficulties in chewing, swallowing and talking.

“My daughter seemed to be very resistant to physical pain,” Dunlap said. “She would never cry when she fell down, bumped into things or received her vaccine shots, which was very, very unusual.”

Bristol was diagnosed with congenital hypotonia, a symptom that can be caused by various neurological or non-neurological conditions, which explained the poor muscle tone throughout her body. She had corrective eye surgery and Dunlap credits the physical, occupational and speech therapies with helping her daughter sit, walk and communicate.

But there was one thing Dunlap wanted to know. What caused Bristol to develop hypotonia?

After consulting many specialists who performed a battery of diagnostic tests and assessments for cerebral palsy, Down syndrome, autism, muscular dystrophy and many others, the results came back negative. Whole exome sequencing, a test that looks for misspellings in a gene, was inconclusive.

After five years searching for answers, Dunlap’s medical odyssey ended at Texas Children’s when Bristol was referred to neurologist Dr. Hsiao-Tuan Chao and geneticist Dr. Michael Wangler, physician scientists in Dr. Hugo Bellen’s lab at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s.

Bellen’s team is an important part of the Undiagnosed Disease Project, a national network established by the National Institutes of Health. Through this initiative, they came to know of a 7-year-old boy who had symptoms remarkably similar to Bristol’s and carried a point mutation in the Early B-Cell Factor 3 (EBF3) gene.

After closely re-examining Bristol’s exome sequencing results, they found she also carried the exact same mutation that produces defective EBF3 protein. Since EBF3 is a master regulator of hundreds of other genes, even the tiniest alteration in its function could potentially cause widespread damage to the developing nervous system and muscles.

The team also learned of another little girl at NYU’s Langone Medical Center who had a similar medical history and was found to carry the exact same EBF3 mutation. The NRI team thought this was truly remarkable and postulated that variation in EBF3 could be the possible link between these two children and Bristol.

The team extensively studied the fruit fly and mammalian versions of EBF3 and concluded the point mutation in EBF3 was indeed the culprit behind the symptoms exhibited by Bristol and the others. In the last six months alone, at least 20 patients around the world have been found to carry the damaging mutations in the EBF3 gene.

While the journey to find a cure for this condition has just begun, Dunlap is happy to finally have some answers.

“Thanks to this study, physicians around the world will now have some understanding of this condition, which we anticipate, will help to diagnose many children in the future,” Dunlap said. “I fervently hope I can now connect with other families of children with EBF3-related disorders so we can learn from and support each other.”