December 6, 2016

113016drmingshanxuecure175Mingshan Xue, PhD, assistant professor at Baylor College of Medicine and investigator at the Texas Children’s Hospital’s Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories/Jan and Dan Duncan Neurological Research Institute, has been awarded the 2016 CURE Epilepsy Felix Henry Memorial Award.

Xue’s research is focused on the development of cortical circuits and how any malfunction of these circuits contributes to epileptic encephalopathies. This award is awarded in the honor of Felix Henry who started having seizures as a 3-month-old infant and tragically succumbed to epilepsy as a 7-month-old baby in March 2016. His parents, Jen Scott and Pierre-Gilles Henry, instituted a $250,000 grant to support transformational scientific research programs.

Citizens United for Research in Epilepsy (CURE) is a leading non-governmental agency fully committed to leading and supporting research in epilepsy. It was founded by a group of parents in 1998, and since its inception, has raised more than $40 million to support epilepsy research initiatives.

Click here to learn more about Xue’s research program and his motivations for pursuing this area of investigation.

113016drprakashmasand175Dr. Prakash Masand, director of Cardiac Imaging Service in the Texas Children’s Hospital Department of Radiology has been awarded a Fulbright & Jaworski LLP Faculty Excellence Award from Baylor College of Medicine. He is the first pediatric radiologist at Texas Children’s to receive this award.

To be considered for an award in Teaching and Evaluation, a member of the Baylor faculty must show evidence of quality of teaching, number of teaching hours and diversity in content of material, and variety of teaching formats among medical students, residents and fellows.

“One of the most valuable assets of any academic medical center is a great teacher,” said Texas Children’s Radiologist-in-Chief George S. Bisset. “Dr. Masand understands the power of teaching and his commitment has inspired many of our trainees in radiology.”

As a Radiology attending physician since 2010, Masand has contributed to the training and education of numerous residents and fellows who rotate on the Radiology service from Baylor College of Medicine, University of Texas in Houston and the San Antonio military program.

As an educator, Masand inspires residents and fellows by incorporating effective teaching methods to help them discover their true potential. He enjoys teaching while interpreting case studies with trainees and enjoys interactions with his trainees during clinical conferences, didactic and lecture based teaching. Masand is also passionate about optimizing and setting up imaging protocols and sequences, which eventually helps with standardization of imaging based algorithms, and provides him with the unique opportunity to participate in the education of our Radiology staff, including nurses, technologists and sonographers.

“My collaboration with residents, fellows and faculty from other clinical specialties has continually enhanced my learning and I am happy to say that we have developed several successful clinical programs using a multidisciplinary approach,” Masand said. “Being the imaging spearhead for these programs, I am able to impart knowledge about the latest and the best imaging techniques to my clinical colleagues, which improves patient care and benefits the community.”

Congratulations to Dr. Masand for this prestigious excellence in teaching award!

113016juliekuzin175Julie Kuzin, a nurse practitioner at Texas Children’s Heart Center, recently received the 2017 American Association of Nurse Practitioners State Award for Excellence. This prestigious award is given annually to a dedicated nurse practitioner in each state who demonstrates excellence in their area of practice.

“Since joining the cardiology team in 2004, Kuzin has cemented her place as a smart and thorough clinician who delivers safe, effective, and efficient care to our patients and their families,” said Angela Gooden, a pediatric nurse practitioner and manager of Advanced Practice Providers in Cardiology, who nominated Kuzin for this award. “We applaud Julie for the outstanding contributions she has made to the APRN practice at Texas Children’s Hospital and across the state of Texas.”

Kuzin was recognized for a number of achievements, including her leadership in advancing professional standards and practice guidelines across the organization. In partnership with Texas Children’s, Kuzin was instrumental in developing a post-master’s Acute Care PNP certification program at Texas Tech University School of Nursing in 2014 to meet professional practice needs for increased access.

Kuzin has been an active participant in efforts to reform NP practice in the state of Texas. She has travelled to multiple legislative sessions and has disseminated key information from those visits. Her fervent commitment to advancing the scope of practice at Texas Children’s was most inspiring by her colleagues when she served as the first assistant director of Acute Care Advanced Practice Providers prior to taking on faculty duties with Texas Tech. Also, Kuzin has served as a model and mentor to providers with her participation in evidenced-based practice and research.

“Many of our APRNs are unsung heroes in their practice, doing what is ordinary to advanced nursing practice but is seen as extraordinary to patients and families,” said Charley Elliott, director of Advanced Practice Providers at Texas Children’s. “We congratulate Julie for achieving this prestigious state award of excellence.”

12716mechanicalleechpg640Have you ever swam in a lake or trudged through swampy waters? If so, you probably have encountered leeches during your outdoor adventures. These worms have been used in human medicine for centuries because of their anesthetic, anti-inflammatory and tissue healing properties.

Primarily used in plastic surgery to restore blood flow to reattached body parts, leeches are considered natural healers. While removing deoxygenated blood from damaged tissue, their saliva contains hirudin, an anti-blood clotting protein, that allows oxygenated blood to flow to the injured tissue until normal circulation can be restored.

While leech therapy has never been used in gynecology and is rarely used in pediatrics due to the psychological impact it may have on patients and parents, what if there was a way to develop a mechanical device that could perform the same functions as a traditional leech?

Dr. Julie Hakim, a pediatric and adolescent gynecology fellow at Texas Children’s and Baylor College of Medicine, proposed this idea to a group of biomedical engineering students at Texas A&M University (TAMU) who then developed a mechanical leech prototype for potential use in pediatric gynecological surgeries.

“In pediatric gynecology, we often perform vaginal reconstructive surgery for girls who are born with congenital abnormalities,” Hakim said. “A graft of tissue is taken from somewhere else on the patient’s body to line the new vaginal tract. However, there are times when the grafts fail or do not take because of poor blood circulation to that area. Developing a novel mechanism to promote graft and tissue flap survival by increasing neovascularization of the tissue would help in these type of surgeries.”

With support from the Denton Cooley Innovation Award, the mechanical leech project and design requirements were presented to TAMU students on their first day of Senior Design Course. Two teams totaling eight students met every week with Hakim via Skype to provide updates on their progress. They also met with Dr. Jennifer Dietrich, Texas Children’s chief of Pediatric and Adolescent Gynecology, to present their updates once per semester.

The head of the mechanical leech was created with a small, flat circular unit measuring 1×1 cm fitted with an array of microneedles underneath for leech saliva egress and blood extraction that interfaces with the tissue. The head contains an outer reservoir for leech saliva and an inner reservoir that collects the extracted blood.

The leech body contains pumps that control and monitor the outflow of leech saliva and the inflow of blood, saliva and blood reservoirs. A blue tooth chip inside the pumps’ electronic assembly communicates through an iPhone app that runs the mechanical leech. The motor’s speed and the flow rate of the fluids can be recorded in real time and adjusted remotely via the iPhone app. The outer shell of the leech body and the gear mechanisms are connected by standard medical tubing.

“The mechanical leech has the potential to reduce complications associated with the use of live leeches,” Hakim said. “Since uncontrolled amounts of leech saliva can cause prolonged bleeding, controlling how much leech saliva is placed into the tissue can reduce the risk of transfusion. This mechanical novel device can also help reduce infection since live leeches are known to harbor bacteria.”

The mechanical leech head and the outer shell of the leech body and the gear mechanisms were 3-D printed. The project’s next step is to refine and test the feasibility of the prototype.

“I think this innovation could be of tremendous importance to the field of pediatric gynecology as well as pediatric surgery in general,” Dietrich said. “I’m excited to see where the next phase of this project takes us as we explore new avenues for improving the care we provide to our patients.”

12716pediatricpilotawardinside900Dr. Jordan Orange, vice chair of research in the Department of Pediatrics, announced the winners of the 2016 Pediatric Pilot Awards Research Grant Program. Ten research applications were chosen by review committee members to receive grant funding in the amount of up to $50,000 for their projects.

The Pediatric Pilot Awards Research Grant Program provides initial start-up “seed funding” to support research projects. This grant program provides opportunities for new or less established researchers as well as experienced researchers who desire to expand their area of research. The grant projects are awarded based upon their scientific merit and the potential to generate the initial data necessary for a successful grant application submission to the National Institutes of Health or other external, peer-reviewed funding mechanisms.

The pilot award program is a collaborative effort between Texas Children’s Hospital and its academic partner, Baylor College of Medicine.

Congratulations to the following 2016 pilot grant awardees. View the names below to learn more about the research project being funded.

12716drsaurabhagarwal175Saurabh Agarwal, Ph.D.
Pediatrics – Hematology/Oncology
Epigenetic targeting of neuroblastoma cancer stem cells

More than half of the patients with high-risk neuroblastoma (NB) will relapse despite intensive multimodal therapy. Treatments for these patients are challenging due to disease heterogeneity, drug resistance, and toxicity. Thus, novel effective therapies are urgently required to specifically target those tumor cells which escape initial treatment and regenerate chemotherapy resistant recurrent disease.

We identified a G-CSF receptor expressing (CD114+) neuroblastoma cancer stem cell (CSC) subpopulation that is drug resistant, drives metastasis and may cause drug resistant relapse. These highly tumorigenic CSCs are distinguished by specific epigenetic alterations that lead to the expression of specific stem cell genes and maintenance of neuroblastoma CSCs.

We found that epigenetic modifiers MLL1 and JMJD3 increase the expression of G-CSF receptor gene (CSF3R) in NB CSCs by maintaining active histone modifications. Our pre-clinical studies show that blocking these epigenetic modifiers with specific small molecule inhibitors leads to neuroblastoma tumor regression and blockage of metastasis in vivo.

This pilot award will further enable us to test novel dual therapeutic approach by combining epigenetic inhibitors with standard chemotherapy for targeting both stem and non-stem neuroblastoma subpopulations. These studies will define specific epigenetic mechanisms contributing to the maintenance and tumorigenicity of NB CSCs, and pave the way for further clinical translation of our findings to block NB CSC-driven relapse and to advance a novel curative approach to neuroblastoma.
12716drwendyallenrhoades175Wendy Allen-Rhoades, M.D.
Pediatrics – Hematology/Oncology
Validation of a plasma microRNA panel as a biomarker for osteosarcoma

Osteosarcoma is the primary bone cancer in children and young adults. Currently, there are no reliable, non-invasive biological markers to detect the presence or progression of disease, assess therapy response or provide upfront prognostic insights. MicroRNAs (miRNAs) are evolutionarily conserved, stable, small non-coding RNA molecules that are key post-transcriptional regulators and are ideal candidates for circulating biomarker development due to their stability in plasma, ease of isolation and the unique expressions associated with specific disease states.

In our previous work, we analyzed more than 750 plasma miRNAs from a genetically engineered mouse model of osteosarcoma and identified a diagnostic panel of four plasma miRNAs. This diagnostic panel was able discriminate healthy from diseased animals. Subsequent analysis of 70 human patient samples corroborated these results and the diagnostic panel could discriminate healthy patients from patients with osteosarcoma. Furthermore, low plasma levels of miRNA-214 in metastatic patients at time of diagnosis were prognostic and conveyed a significantly better overall survival.

With the funding from the Pediatric Pilot Award, we will continue the necessary steps to fully validate this novel biomarker by completing validation of the diagnostic and prognostic miRNA biomarkers in 200 additional human samples. The long-term goal of this project is to test these new biomarkers in a prospective clinical trial.
12716drsaraanvari175Sara Anvari, M.D.
Pediatrics – Immunology, Allergy and Rheumatology
Defining biomarkers of successful peanut oral immunotherapy

Peanut allergy is one of the most common causes of severe and fatal allergic reactions related to food. The prevalence of peanut allergy has nearly tripled in the last 20 years and current standard of care for peanut allergy is strict avoidance of peanuts and ready access to emergency medications. While recent research has demonstrated that early introduction of peanuts, instead of avoidance, during infancy can greatly reduce the risk of a peanut allergy, this strategy is not applicable to individuals who have already developed an allergy.

For older children, teens, and adults, peanut oral immunotherapy (pOIT) is one method by which peanut allergies can be treated through step-wise introduction of peanut protein. This introduction is an effort to manage and reduce the allergic reactions in patients. However, how pOIT alters patients’ immune systems to recognize peanut protein as benign instead of “dangerous” (the nature of severe allergy) is poorly understood. Additionally, biomarkers, or testable indicators of efficacy, for pOIT success in a given patient are also still unknown at this time.

Most current research is focused on how pOIT modifies a white blood cell population, called T regulatory cells, which help control the severity of inflammation caused by immune reactions inside the human body. But T regulatory cells are just one end point of a larger set of immune reactions to pOIT. My research program will focus upstream of T regulatory cells on another population of white blood cells, called dendritic cells, which can communicate with and modify T regulatory cell, as well as several other types of white blood cells.

Specifically, the research award will help (1) identify biomarkers to predict a patient’s success (i.e. peanut tolerance) or failure (i.e. persistent peanut allergy) early in the course of pOIT, without waiting to complete three years of therapy; (2) development of targeted therapies for peanut allergic individuals aimed at altering dendritic cell populations to better modulate T regulatory populations which aid in the reduction of severe inflammatory reactions which make peanut allergies so life threatening.
12716drevelinebarbieri175Eveline Barbieri, M.D.
Pediatrics – Hematology/Oncology
Targeting MYCN-amplified neuroblastoma through RORa activation

The MYCN oncogene is a transcription factor frequently upregulated in high-risk neuroblastoma, which is profoundly involved in neuroblastoma initiation and progression. Thus, strategies antagonizing MYCN activity are a vital need in neuroblastoma therapy and the focus of this proposal.

Our laboratory has discovered that MYCN-driven neuroblastoma has an increased dependence on glutamine and lipid metabolism. Recent findings in other tumor types suggest an important link between these metabolic pathways and the circadian clock, which is disrupted in aggressive malignancies.

This led us to investigate how MYCN oncogenic signaling, circadian clock, and neuroblastoma metabolic tumor reprogramming are interrelated. Intriguingly, we have found that RORα signaling, a central component of circadian clock, is lost in MYCN-amplified neuroblastoma and this contributes to aberrant tumor proliferation.

Our specific aims will: 1) determine the metabolic programs activated by RORα in MYCN-driven tumors, and 2) determine the in vivo anti-tumor effects of RORα reactivation in pre-clinical neuroblastoma models. These studies will offer insights into critical molecular and metabolic alterations, which will provide new and more sensitive targets that could be strategically deployed with currently available therapies to treat this highly aggressive disease. Moreover, many enzymes in this pathway are amenable to small molecule inhibitors and therapeutic targeting of RORα-mediated metabolism is moving to the clinic.
12716drjennydespotovic175Jenny Despotovic, D.O.
Pediatrics – Hematology/Oncology
Genetic variants and gene expression patterns in acute and chronic immune thrombocytopenia

Immune thrombocytopenia (ITP) is an autoimmune disorder and one of the most common causes of low platelets in children. Twenty-five percent of affected children develop chronic ITP and some have significant morbidity and mortality. Currently, it is impossible to predict an individual patient’s clinical course and likelihood of spontaneous remission at the time of diagnosis.

Identification of children more likely to develop chronic ITP at diagnosis would improve treatment decisions and could also help identify important mechanisms of disease that could lead to more tailored treatment. Based on strong preliminary data produced in our laboratory, we believe that acute and chronic ITP are distinct diseases that can be distinguished at diagnosis; and specific genetic changes and gene expression differences influence the development of chronic ITP.

In our study, we are collecting DNA at enrollment on all patients with ITP, as well as RNA on patients with acute ITP at the time of diagnosis and at the time of disease resolution. For patients with chronic ITP, we are obtaining RNA at several time points. We will use the most current sequencing technologies to look for changes that may help explain differences between these two disorders with the eventual goal of identifying markers that could be used to distinguish the two disorders at diagnosis so that we could determine how to best approach each patient.
12716drjohnhollier175John Hollier, M.D.
Pediatrics – Gastroenterology
Efficacy of pre-recorded guided imagery session on pediatric gastrointestinal pain disorders managed in primary care

Up to 20 percent of school-age children and adolescents throughout the world are afflicted by recurring abdominal pain that cannot be explained by routine medical laboratory tests or procedures. These children miss more school and rank their general well-being much lower than their healthy counterparts. These disorders also may be associated with psychological distress like anxiety and depression.

One of the most effective treatments for these “functional gastrointestinal pain disorders” (FGIDs) fall under the category of cognitive behavioral therapy. However, access to this type of therapy often is not available due to lack of insurance coverage and/or scarcity of trained healthcare professionals.

Researchers have previously demonstrated the success of guided imagery, a type of cognitive behavioral therapy in treating FGIDs. Guided imagery can be delivered via using compact disc players so that patients can receive therapy at home. Our goal is to find out if audio-recorded guided imagery can be used to treat FGIDs when children are seen in the primary care setting (i.e., by their pediatrician or nurse practitioner). If so, we would be able to get treatment to these children sooner and likely decrease the need for them to be referred to a specialist (gastroenterologist). Our long term research goal is to use mobile cost effective technologies to improve the clinical care of patients with FGIDs and other pediatric diseases.
12716drandrewlandstrom175Andrew Landstrom, M.D.
Pediatrics – Cardiology
The role of junctophilin-2 in the regulation of cardiac nodal tissue

Diseases that impact the nodal tissue of the heart, such as the heart’s pacemaker, can be life-threatening. Children can suffer from these arrhythmias following surgery, through inheritance within families or for no identifiable reason. These arrhythmias can cause fainting, inability to play with the same energy as other children, or even death from collapse of the circulatory system. Despite how serious nodal disease can be, little is known about how these cells beat and how misbeats can occur. Since basic science has limited understanding of this specialized tissue, the therapies levied against nodal disease are toxic and can be ineffective.

A major reason for the lack of specialized therapies is the absence of experimental models which accurately reflect the arrhythmia. We have created an unparalleled mouse model with cardiac nodal disease that can be molecularly triggered to have arrhythmias from the nodal tissue of the heart. This mouse hosts a molecular switch which allows exposure to a pharmacological trigger to decrease the amount of a protein named junctophilin-2 (Jph2) specifically in the heart.

We have previously shown that reduction in the normal amount of Jph2 in the muscle cells of the heart causes calcium to leak into the cell. This causes a loss of contractile force and cardiac failure. We have also found that human mutations in the gene which encodes Jph2 can lead to cardiac hypertrophy as well as atrial fibrillation. All of these diseases are associated with early, and sometimes sudden, death. We have recently found that expression silencing of Jph2 specifically in the nodal tissue results in a rapid resting heart rate and an arrhythmia known as accelerated junctional rhythm. Our early studies have given strong evidence that this mouse has nodal disease that is very similar to many of the children which suffer from nodal dysrhythmias.

With support from pilot research grant, we hope to delve into the physiology of the cardiac pacemaker and to discover the molecular causes of nodal arrhythmias. We believe that the same calcium signaling that becomes perturbed in the muscle cells of the heart may be to blame for these arrhythmias. Careful interrogation of this possibility, and dissection of the molecular underpinnings of this mouse’s arrhythmias, will offer the first insights into the nodal diseases which remain unexplained and ineffectively treated.
12716drjennettemoreno175Jennette Moreno, Ph.D.
Pediatrics – Nutrition
Assessment of differences in children’s circadian rhythms during the school year and summer vacation

Consistent evidence indicates that school age children demonstrate improvements in their weight status during the school year, yet gain substantial weight during summer. These summertime increases in body mass index (BMI) increase children’s risk for becoming overweight or obese. Further, children at risk for developing chronic health conditions associated with obesity are more likely to demonstrate increases in BMI during summer. Preventing increases in children’s weight during summer may be an important opportunity to address the obesity epidemic in children.

Obesity is conventionally considered a problem of imbalance in energy intake (diet) and expenditure (physical activity/sedentary behavior). There is growing awareness of the role of sleep and circadian rhythms in the development of obesity, yet differences in children’s sleep and circadian rhythms during the school year and summer have not been examined.

Circadian rhythms are internal processes present in all living things that operate on a roughly 24 hour cycle. Behavioral rhythms such as the timing of meals and going to bed and waking up at a consistent time are some of the behaviors known to promote stable circadian rhythms. Changes in sleep and behavioral rhythms may result in disruption of circadian rhythms. Because summer vacation is associated with changes in children’s sleep and behavioral rhythms, the school year and summer vacation paradigm offer an important opportunity to expand our scientific understanding of the role of disruptions in sleep and circadian rhythms on the development of obesity in children.

Little is known about differences in children’s sleep and circadian rhythms during the school year and summer. With the current proposal, we plan to address this gap in scientific knowledge by measuring differences in children’s sleep and circadian rhythms during the school year and summer. We will assess whether differences in sleep and circadian rhythms are related to changes in children’s weight during the school year and summer. These data will may lead to novel approaches to the prevention of obesity in children.
12716drrobinparihar175Robin Parihar, M.D.
Pediatrics –Hematology/Oncology
Testing a novel non-invasive method to assess efficacy of tumor microenvironment-directed immune therapy

Some children with cancer have solid tumors, or collections of abnormally growing cells, within their organs. These collections are made up of mostly cancer cells, but also of accessory cells that help the tumor hide from the body’s immune system and grow – collectively called the tumor microenvironment. Our laboratory created a new type of immune therapy to specifically target and destroy these accessory cells found within the tumor microenvironment so that they can’t help the cancer grow.

One of the main problems for testing our immune therapy in patients with solid tumors is that we can’t detect these accessory cells without performing a biopsy procedure of the tumor inside the body. In order to detect the accessory cells in patients at many different times during their therapy, we would have to perform repeated invasive biopsy procedures, which come with additional risks and costs. There is currently no non-invasive method by which to determine the effectiveness of therapies that target the tumor microenvironment. If strategies targeting the tumor microenvironment are to be tested in humans, non-invasive methods will need to be developed to evaluate their effectiveness, thereby circumventing the need for repeated invasive biopsies.

Our project involves the creation and testing of a new type of CAT scan that can indirectly detect the accessory cells of the tumor microenvironment. If successful, our new CAT scan can be used to detect changes in the number of accessory cells in patients receiving our new immune therapy, without the need for repeated invasive, risky, or costly procedures. This new CAT scan can be used in clinical trials of other immune therapies as well and may be applied to both children and adults with cancer. The long term goal of the project is to develop a clinical imaging tool that will allow doctors to follow changes within the tumor microenvironment induced by immune therapies.
12716drsarahsartain175Sarah Sartain, M.D.
Pediatrics – Hematology/Oncology
The linkage between hemostasis-thrombosis, complement, and inflammation in the pathophysiology of thrombotic microangiopathy

The goal of our research is to improve the health of patients with thrombotic microangiopathy, a group of disorders that cause anemia, low platelets, clots in the blood vessels, and blood vessel damage of the brain, heart, and kidneys. The mechanisms of small blood vessel damage in thrombotic microangiopathy are not precisely defined.

We will investigate the means by which thrombotic microangiopathy causes blood vessel injury and organ damage. We believe that the immune system is involved in the process of vessel injury in thrombotic microangiopathy. This is based on previous work showing that components of the immune system known as the “alternative complement pathway” bind to, and become activated on, long and sticky von Willebrand factor (VWF) strings secreted from blood vessel walls. These VWF strings normally attract platelets to initiate blood clot formation. We intend to determine if activated alternative complement components on these strings contribute to blood vessel injury. We will also determine if a powerful molecule produced during inflammation (known as “tumor necrosis factor”) controls activation of the alternative complement pathway on the VWF strings, contributing to heart, brain, and kidney blood vessel injury.

Our proposed research has long-term biomedical significance because determining the mechanisms of blood vessel/organ injury in thrombotic microangiopathy will lead to the development of therapies to improve the outcomes in this disorder and may be applicable to more common types of blood vessel injury in the general population.

12716bellowsconstructioncrewmeetselsa640Whether you’re walking the halls of the hospital at main campus or glancing outside the window, you may have noticed a new addition to the Pediatric Tower construction site – an 8-foot cardboard cutout of Elsa!

Elsa is Texas Children’s new therapy dog. She has been seeing patients across the inpatient population since October and provides goal-oriented therapeutic interventions. The positive response to her arrival has been overwhelming. Since Elsa is unable to see all patients, Child Life recently launched a fun project for patients, families and staff so they can interact with Elsa in other ways.

An 8-foot replica of Elsa wearing a construction hat can be found in a different location every week in the Pediatric Tower. The Bellows construction team is joining in on the fun and they are moving Elsa each week to allow patients, family and staff to enjoy the weekly game of “Where’s Elsa?”.

There are interactive activities to engage patients and families who find Elsa and a weekly event in the Zone on the 16th floor of West Tower for patients and families to have fun searching for Elsa. For those patients who are on isolation, there are specialized activities to ensure they are able to participate in the game too.

Join in on the fun and see if you can find Elsa this week! Engage your patients and families to find Elsa too!

And as always, Elsa is ready to greet you when she sees you in the hall and continues to be incredibly excited to be a part of the Texas Children’s team.

December 5, 2016

12516zoghbi640On Sunday, December 4, Texas Children’s and Baylor College of Medicine’s pioneering neuroscientist Dr. Huda Zoghbi was honored with the Breakthrough Prize in the field of Life Sciences during a star-studded ceremony in San Francisco’s Silicon Valley.

Awarded annually to the world’s top scientists in fundamental physics, mathematics and the life sciences, the Breakthrough Prize is considered Silicon Valley’s most significant science prize for what they cite as paradigm-shifting research. The Prize was founded by Sergey Brin (Google), Anne Wojcicki (23andMe), Mark Zuckerberg (Facebook), Priscilla Chan (Chan Zuckerberg Initiatives), Yuri Milner (DST Global) and Julia Milner.

Presented during a live broadcast on the National Geographic Channel, Zoghbi was recognized for her discoveries of the genetic causes and biochemical mechanisms of spinocerebellar ataxia, a neurodegenerative disorder affecting balance and coordination, and Rett syndrome, a genetic neurological disease characterized by the loss of motor skills, speech and other cognitive abilities affecting girls one or two years after birth. Prior to Zoghbi’s pioneering work in neuroscience, little was understood about the causes of these diseases, let alone how to potentially treat or cure them.

As one of the world’s leading neurogeneticists, Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s and Baylor, has been instrumental in other important medical breakthroughs in neurological disease research including her most 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.

“We are tremendously proud of the transformational work Dr. Zoghbi and her team are doing at the NRI. The numerous discoveries coming from Texas Children’s and Baylor will have an immeasurable impact on so many of our families suffering from unexplainable neurological diseases,” said Texas Children’s President and CEO Mark A. Wallace. “Please join me in congratulating Dr. Zoghbi for this well-deserved and prestigious global recognition.”

Zoghbi plans to donate the majority of her $3-million Breakthrough Prize to support education and research initiatives. She wishes to recognize the institutions that impacted her career including Texas Children’s and Baylor. The gifts will help advance genetic and neuroscience research.

Zoghbi thanked her supporters with the following acceptance speech: “As a young doctor, I found it heartbreaking to watch my patients, young and old, lose their lives to neurological diseases. I turned to research for answers, and today, together with collaborators and trainees, we are charting new paths towards viable therapies. It’s thrilling to see we are beginning to understand the language of life and translate it to help mankind. I feel fortunate to have had my career nurtured by two of the finest institutions, Baylor College of Medicine and Texas Children’s Hospital and to have the support of the Howard Hughes Medical Institute. I thank my husband William and our children, Roula and Anthony, for their unwavering support, and they share this honor with me today.”

Click here to learn more about the ceremony and this award including a feature story on Zoghbi from the Houston Chronicle. FOX will air a one-hour version of the ceremony on Sunday, December 18, at 6 p.m.

In addition to this accolade, Zoghbi has earned dozens of honors and awards, including most recently the 2016 Shaw Prize in Medicine and the 2016 Jessie Stevenson Kovalenko Medal for her research.