June 30, 2015

7115NRIswannlab640As world leaders in neuroscience research, scientists from the Jan and Dan Duncan Neurological Research Institute (NRI) and the Cain Foundation Labs at Texas Children’s continue to pioneer innovative treatments to improve the quality of life for children with devastating neurological diseases.

From unlocking the molecular mysteries of epileptic seizures to providing novel insights on how to repair brain injuries in newborns, NRI researchers are helping to revolutionize the care and treatment for our patients at Texas Children’s Neuroscience Center and patients around the world.

In her blog, Texas Children’s scientific research writer Dr. Rajalaxmi Natarajan highlights some of the 2015 groundbreaking discoveries from the NRI labs of Drs. Benjamin Deneen, Hugo Bellen, Mirjana Malatic-Savatic and Anne Anderson.

May 19, 2015

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Two researchers from the Jan and Dan Duncan Neurological Research Institute at Texas Children’s – Dr. Benjamin Deneen and Dr. Olivier Lichtarge – were among the five Baylor College of Medicine faculty members honored with the 2015 Michael E. Debakey, M.D., Excellence in Research Award. Their work represents the college’s most significant published scientific contributions to clinical or basic research during the past three years.

The award, named in honor of the college’s first president and pioneering heart surgeon Dr. Michael E. DeBakey, was presented to the recipients at a ceremony and symposium May 6. The awardees received a commemorative medallion and funds from the Debakey Medical Foundation to support their research.

52015DebakeyAagaard175Dr. Kjersti Aagaard

Dr. Kjersti Aagaard is an associate professor of obstetrics and gynecology in the section of maternal fetal medicine at Baylor College of Medicine and Texas Children’s Pavilion for Women.

Aagaard’s research examined the effect of in utero exposures on the health of generations of offspring, particularly in the field of obesity. Her widely cited paper on the placental microbiome appeared in the journal Science Translational Medicine and showed that the placenta harbors a rich community of microrganisms, a finding that has implications for normal and abnormal pregnancy outcomes, including premature labor.

52015DebakeyDeneen175Dr. Benjamin Deneen

Dr. Benjamin Deneen is a researcher at the Dan and Jan Duncan Neurological Research Institute at Texas Children’s and associate professor of neuroscience at Baylor College of Medicine

Deneen has focused his most recent work on developmental gliogenesis and how this process applies to glial-based diseases of the central nervous system. This translational approach has focused on the NFI (nuclear family 1) transcription factors, and he recently found that NFIA is regulated by the transcription factor SOX9, which mediates the genesis of glial cells. He went on to identify this unique set of genes that regulate key aspects of the molecular processes that control glial generation. From there, he determined the roles of NFIA expression and the proliferation of glial precursors, both during development and tumor initiation. A new mouse model enabled him to better understand the role of NFIA in the generation of glioma subtypes and thus to argue for the convergence of development and cancer.

52015DebakeyKheradmand175Dr. Farrah Kheradmand

Dr. Farrah Kheradmand is a professor of medicine (pulmonary) at Baylor College of Medicine.

Kheradmand has devoted her professional career to the study of emphysema, the third leading cause of death in the United States. With most of her clinical work taking place at the Michael E. DeBakey VA Medical Center, she has used patient samples to characterize the immune makeup of those who have this deadly disease, contributing to the pipeline for translational research at the DeBakey VA Medical Center.

Using a pre-clinical model of emphysema in mice, she discovered the product of T-cells in the emphysema-stricken lungs start the chemical cascade that results in focal lung collapse, a hallmark of the disease.

A second study demonstrated the autoimmune basis of emphysema and a third showed that reduced levels of peroxisome proliferator-activated receptor gamma in smoker’s lung promotes emphysema through the release of a particular cytokine that enhances the autoimmune effect. In addition, work with her collaborator Dr. David Corry, professor of medicine at Baylor, has enabled her to make seminal discoveries in the area of asthma.

52015lichtarge175Dr. Olivier Lichtarge

Dr. Olivier Lichtarge is a researcher at the Dan and Jan Duncan Neurological Research Institute at Texas Children’s and professor of molecular and human genetics at Baylor College of Medicine. He is also director of Baylor’s Computation and Integrative Biomedical Research Center.

Lichtarge focuses his computational work on the molecular basis of protein function and interaction, the design of peptides and proteins with new functions and the interpretation of genome variations in health and disease. In a recent paper, he and his colleague demonstrated how high throughput of functional information, such as protein expression and interaction, can be integrated into a single gene network.

They invented a compression technique to shrink the size of the network, using it to determine the molecular function of the malarial gene Exp-1 as a glutathione-s-transferase. This led to the discovery that artemisinin, the malaria drug of choice, inhibits the activity of this gene – important because the drug is an herbal derivative of unknown mechanism to which malaria in southeast Asia is becoming resistant.

In a second paper, Lichtarge and his colleagues took on the problem of “big literature” using the protein p53 as an example. They developed a technology tool based on IBM’s Watson supercomputer and mined the scientific literature to extract important data related to the protein.

A third paper took on the most basic problem in biology – how phenotype relates to genotype, and in practice, it shows how to best interpret exome variations among individuals to bring about the personalization of medicine.

52015Xin175Dr. Li Xin

Dr. Li Xin is an associate professor of molecular and cell biology at Baylor College of Medicine.

Xin’s research has concentrated on the initiation of prostate cancer as it is affected by inflammation that alters prostate lineage differentiation. His work has identified the dual nature of the Notch protein in prostate disease – suppressing proliferation of the prostate basal cell while inducing luminal cell hyperproliferation, showing how this critical protein affects prostate cancer initiation.

Dr. Xin’s work provides a critical insight into the nature of prostate cancer in an area that has been understudied, and his future work promises to bring new clarity to prostate stem cell biology and the metastasis of this difficult disease.

May 11, 2015

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Bench and Bedside is a digest of the previous month’s stories about the clinical and academic activities of our physicians and scientists. We welcome your subsmissions and feedback.

51215icd10300April 28

Countdown to ICD-10: Deadline to meet educational requirements is September 1

On October 1, Texas Children’s and hospitals across the nation will switch from ICD-9 to the ICD-10 coding system to report patients’ diagnoses and procedures. The ICD-10 codes will allow greater specificity and accuracy in describing a patient’s diagnosis and classifying inpatient procedures. Texas Children’s education teams have developed helpful tools to ensure all employees are prepared for this mandatory conversion.

“We believe that communicating the change clearly and consistently will help ensure a smooth transition,” said Texas Children’s Chief Safety Officer Dr. Joan Shook. Read more

 

April 28

Super Star Physician: Dr. Stephanie Marton

Dr. Stephanie Marton from the Center for Children and Women – Greenspoint is the latest Texas Children’s Super Star physician. “Every day I see patients coming in to the Center, and I directly see the impact that Texas Children’s Hospital is making in this community.” Read more

 

April 28

Giardino to serve on ABMQ Board of Directors

Texas Children’s Chief Quality Officer and Senior Vice President Dr. Angelo Giardino was recently unanimously confirmed to serve on the American Board of Medical Quality (ABMQ) Board of Directors. The organization is closely associated with the American College of Medical Quality of which Giardino is a distinguished fellow. Read more

 

April 28

Patel receives distinguished fellowship award

Dr. Akash Patel will be presented with the 2015-2016 Christopher R. Getch Fellowship Award from the Congress of Neuroligical Surgeons Fellowships Committee during its annual meeting in September. This prestigious award provides $100,000 for advanced training and is given to a neurosurgeon or fellow engaged in clinical research that promises to significantly impact the field of neurosurgery. Read more

 

April 28

Dr. George Bisset receives prestigious award

Radiologist-in-Chief Dr. George Bisset will be honored for his contribution to pediatric radiology at the 45th annual Sociedade Paulista de Radiologia (SPR) meeting held in Brazil. The conference is the biggest diagnostic imaging meeting in Latin America and the fourth largest in the world. Bisset will be the first non-Brazilian to receive honorary membership in this organization. Read more

 

51215Cainlab300April 21

New Cain Labs website promotes groundbreaking epilepsy research

Texas Children’s has launched a new website dedicated to innovative epilepsy research conducted at the Cain Foundation Laboratories in the Jan and Dan Duncan Neurological Research Institute and other test centers around the world. The website also includes a repository of helpful information about epilepsy treatment programs for patients and their families, including a link to Texas Children’s Level IV Epilepsy Center. Read more

 

51215cooley300April 21

Surgeon-in-chief speaks at Texas Surgical Society meeting

Surgeon-in-Chief Dr. Charles D. Fraser, Jr. spoke at a Texas Surgical Society meeting on April 11 in Galveston. Fraser, who is the son-in-law of Dr. Denton A. Cooley, talked about the hospital’s 60-year history of pediatric heart surgery and the roles played by Cooley and himself. More

 

 

April 20

Texas Children’s Hospital helps determine standard of care for children with cleft lip and palate

Representatives from Texas Children’s Hospital: Dr. Laura Monson, pediatric plastic surgeon; Christy Hernandez, director of the Texas Children’s Hospital Outcomes and Impact Service; and Dr. John Wirthlin, craniofacial orthodontist, joined an international group of medical professionals, patients and parents to determine a standard set of outcome measures for children born with cleft lip and palate. These guidelines will help all institutions develp a standard treatment of care of this population of patients and will be available for implementation starting in February. Read more

 

51215wesleylee300April 14

Lee recognized for his contribution to fetal imaging advancements

Dr. Wesley Lee, co-director of Texas Children’s Fetal Center and section chief for women’s and fetal imaging at Baylor College of Medicine, recently received the William J. Fry Memorial Lecture Award from the American Institute of Ultrasound in Medicine (AIUM). Read more

 

51215PAPRs300April 14

New PAPRs help provide full complement of PPE

Texas Children’s recently acquired 30 powered air purifying respirators (or PAPRs) to protect emergency responders from chemical, biological, radiological and nuclear agents. This addition to our PPE inventory helps ensure the safety of our health care professionals when they are treating patients with highly contagious infectious diseases. Read more

 

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Texas Children’s, AAP partnership helps physicians advocate for their patients

Texas Children’s and the American Academy of Pediatrics (AAP) signed a first-of-its-kind partnership agreement whereby every eligible faculty member of the Baylor College of Medicine Department of Pediatrics is a member in the AAP and the Texas Pediatric Society (TPS). Since this partnership began a year and a half ago, the following Texas Children’s faculty have been actively involved with the AAP and TPS to champion the health, safety and well-being of children: Dr. Robert Voigt, Dr. Robert Ricketts, Dr. Mark Gilger, Dr. Fernando Stein, Dr. Carol Tapia, Dr. Mark Ward, Dr. Krithka Lingappan and Dr. Bruno Chumpitazi. Read more

 

April 14

Texas Children’s Hospital receives Healthcare Informatics Magazine’s 2015 Innovator Award

Texas Children’s Hospital has earned second place in Healthcare Informatics Magazine’s fourteenth annual Innovator Awards. The award was given to Texas Children’s for its quality improvement work to identify, deploy and measure new best practices and improve outcomes for children with appendicitis.

“We felt there was an urgent need in the health care industry to accelerate the identification and deployment of shared guidelines of care,” said Dr. Charles Macias, Texas Children’s Chief Clinical Systems Integration Officer and Evidence Based Outcomes Center director. Read more

 

April 14

New pediatric urologist joins Department of Surgery

Dr. Duong Dai Tu has joined Texas Children’s as a new pediatric urologist. Tu, who started April 1, has been appointed assistant professor of urology and attending surgeon in urology at Baylor College of Medicine.

“Dr. Tu is bringing an exciting vision to the surgery team that will help us continue to develop a preeminent program, enabling us to better serve our patients and their families,” chief of Urology, Dr. David Roth said. Read more

 

April 7

Texas Children’s welcomes new surgeon and researcher, Dr. Sundeep Keswani

Dr. Sundeep Keswani joined Texas Children’s as a pediatric and fetal surgeon and an associate professor at Baylor College of Medicine. He also is the principal investigator of a National Institutes of Health (NIH) funded laboratory. Read more

 

51215transplantnos300April 7

Transplant team perform 95 organ transplants in 2014

Transplant teams with Texas Children’s Hospital performed 95 solid organ transplants in 2014, continuing to serve as one of the largest, most active and successful pediatric transplant programs in the nation. The heart and the lung transplant programs were the largest in the country last year with 32 heart transplants and 16 lung transplants.

“Texas Children’s Transplant Services continues to earn its reputation as one of the best pediatric transplant programs in the country,” said Dr. John Goss, medical director of Transplant Services. Read more

 

April 7

CRC presents resarch award to Dr. Srivaths

The Clinical Research Center presented the Clinical Research Award for First Quarter 2015 to Dr. Poyyapakkam Srivaths, Department of Pediatrics – Renal, Baylor College of Medicine. Dr. Srivaths’s research activities in the CRC focus on investigating cardiovascular morbidity associated with end stage renal disease (ESRD) in children. Read more

April 28, 2015

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Dr. Akash Patel will be presented with the 2015-2016 Christopher R. Getch Fellowship Award from the Congress of Neurological Surgeons Fellowships Committee during its annual meeting in September.

This prestigious award provides $100,000 for advanced training and is given to a neurosurgeon or fellow engaged in clinical research that promises to significantly impact the field of neurosurgery.

Patel is an assistant professor of neurosurgery at Baylor College of Medicine and a neurosurgeon who specializes in the treatment of malignant and benign tumors of the brain and skull mass.

As a scientist at the Jan and Dan Neurological Research Institute at Texas Children’s, Patel’s research focuses on determining the molecular underpinnings of inherited and sporadic forms of various brain tumors to develop targeted therapies to treat common and aggressive cases.

April 21, 2015

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Texas Children’s has launched a new website dedicated to innovative epilepsy research conducted at the Cain Foundation Laboratories and other test centers around the world.

The Cain Labs located in the Jan and Dan Neurological Research Institute (NRI) at Texas Children’s is named after Houston philanthropists Gordon and Mary Cain, who established a foundation to fund pediatric epilepsy research programs at Texas Children’s and Baylor College of Medicine.

42215Cainlabinside640Under the leadership of Dr. John Swann, a professor of pediatrics and neuroscience at Baylor and a former president of the American Epilepsy Society, researchers in the Cain Labs have made remarkable advances in our understanding of the molecular causes that underlie persistent seizures and cognitive and behavioral disabilities in children with intractable epilepsy.

You can visit the Cain Labs website at cainlabs.texaschildrens.org. (The website is best viewed with Chrome, IE8/9 or other modern browsers.)

“This newly designed website showcases our world-class researchers and their latest life-changing discoveries in epilepsy that occur every day inside the Cain labs,” said Texas Children’s Digital Marketing specialist Dr. Raji Natarajan, who designed the website and is a scientific research writer for the Cain Labs and NRI websites.

The epilepsy research website also includes a repository of helpful information about epilepsy treatment programs for patients and their families, including a link to Texas Children’s Level IV Epilepsy Center.

March 31, 2015

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Dr. Huda Zoghbi received the 2015 Mortimer D. Sackler, M.D. Prize for Distinguished Achievement in Developmental Psychobiology, awarded by Weill Cornell Medical College and Columbia University College of Physicians and Surgeons.

Zoghbi is the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s, a professor of molecular and human genetics, pediatrics, neuroscience and neurology at Baylor College of Medicine, and a Howard Hughes Medical Institute investigator.

As a member of the National Academy of Sciences, Zoghbi has pioneered research on Rett syndrome and other rare brain disorders, and has advanced research of more common conditions including autism and adult neurodegenerative diseases.

In one of her most well-known achievements, Zoghbi provided a definitive genetic diagnosis for Rett syndrome and opened the door to a biological understanding and a search for treatment. Rett syndrome is a genetic neurological disease that usually affects young girls. 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.

Zoghbi has also found other genes, including Math1, an essential gene governing the development of cells critical for hearing, balance, and breathing, and the genes for spinocerebellar ataxia 1 and 6. Her work has led to a better understanding of neurodevelopmental and neurodegenerative disorders.

“We’re thrilled that Dr. Zoghbi is this year’s recipient,” said Dr. B.J. Casey, director of the Sackler Institute and the Sackler Professor of Developmental Psychobiology at Weill Cornell Medical College. “She’s dedicated herself to this field for decades and has made remarkable achievements. But we’re also recognizing her leadership in the field of neuroscience and her track record of mentoring young scientists as they embark on their own careers.”

The prize is named for the Dr. Mortimer D. Sackler, one of the most creative scientists in the field of developmental psychobiology. The Mortimer D. Sackler Foundation, Inc. endowed the prize in a gift in 2009.

“To have a prize bearing the name of someone who’s made such remarkable achievements in this field is a great honor,” Zoghbi said. “There are so many deserving scientists and physician-scientists out there who have done fantastic work. I feel truly honored to have been selected.”

Zoghbi plans to donate the $100,000 prize money to a mentorship fund that she established to help young female scientists get their work – specifically research on “bold, new ideas” – off the ground.

March 24, 2015

F

Have you ever found your fruit bowl teeming with fruit flies that seemed to appear out of nowhere? While pesky at times, these 6-legged, red-eyed insects have endured as a laboratory staple for more than 100 years, helping scientists unlock the genetic causes of human disease.

In a recently published article in the journal Genetics, fruit fly biologists at the Jan and Duncan Neurological Research Institute at Texas Children’s – Drs. Michael Wangler, Shinya Yamamoto and Hugo Bellen – explore the value of fruit fly research and the need for more funding to accelerate biomedical discoveries using the Drosophila fruit fly.

Unlike mouse models, the authors argue that fruit flies are inexpensive to maintain, they grow quickly from embryo to adult in 12 days, and share many similar genes with humans, making the Drosophila a powerful model organism for the study of genetics.

To study human disease in fruit flies, scientists mutate, or disrupt, the same gene that is known or suspected to cause the disease, and then figure out why mutations with this particular gene leads to disease. However, one can also take an unbiased approach and discover new genes.

Inside their laboratory at the NRI, Bellen and his team have performed a large scale forward unbiased genetic screen which allowed them to isolate 165 fruit fly genes that cause neuro-developmental and neuro-degenerative phenotypes when mutated, 90 percent of which have human counterparts. The human counterparts of one third of the genes cause Mendelian disorders. By exploring the remaining two thirds of the genes in patients with rare disease they could identify a few novel human diseases genes, work that they did in collaboration with Drs. Jim Lupski and Richard Gibbs.

A detailed characterization of some of the 165 genes also permitted them to discover novel mechanisms that underlie a variety of known diseases such as the peripheral neuropathy associated with Charcot-Marie-Tooth (2A) disease, Leigh syndrome and some ataxias, including Spinocerebellar Ataxia 6 and Friedreich ataxia.

“By understanding how a particular gene works in the fruit fly, we can dissect the molecular and genetic events that underlie the pathogenesis of human disease so that effective treatments can be developed in the future,” Bellen said.

“We see fruit fly research as an avenue of tremendous importance,” Wangler said. “Federal agencies need to actively encourage collaborative research between fruit fly researchers and human geneticists and clinicians to make the best possible use of dwindling research dollars to promote public health.”

Click here to read their article titled, “Fruit flies in biomedical research,” in the journal Genetics.