March 24, 2015

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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’sDrs. 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.

October 28, 2014

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Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine, is featured in the fall issue of The Vilcek Foundation Newsletter. The publication honors and supports foreign-born scientists who have made outstanding contributions to society in the United States.

The article titled, “America’s Brain Gain: Immigrants at the Frontier of Neuroscience,” traces Zoghbi’s journey from Beirut, Lebanon to the United States, and spotlights her remarkable achievements in neuroscience, which includes unlocking the genetic and molecular mysteries behind a number of devastating and rare neurological disorders.

Click here to read the spotlight article on Dr. Huda Zoghbi.

September 30, 2014

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The Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s and Baylor College of Medicine welcomed two new faculty members, Dr. Akash Patel and Dr. Mingshan Xue.

“I am thrilled to have Dr. Patel and Dr. Xue launch their independent research careers at the NRI,” said Dr. Huda Zoghbi, founding director of the NRI. “Dr. Xue has a stellar track record and is one of the most innovative scientists that I know. Dr. Patel is one of those rare neurosurgeons who chooses to do basic research while maintaining an active neurological practice.”

Akash Patel and Mingshan Xue launch their research careers at the NRI.

Dr. Akash Patel
Patel, an assistant professor in the department of Neurosurgery at Baylor and the NRI, is a neurosurgeon who specializes in the treatment of malignant and benign tumors of the brain and skull base. His clinical interests include neuroendoscopy and minimally invasive neurosurgery, awake craniotomy and brain mapping for tumors in eloquent regions of the brain, and surgery for deep brain tumors: intraventricular, pineal, insular and brainstem.

Patel is a member of the American Association of Neurological Surgeons and the Congress of Neurological Surgeons. He earned an undergraduate degree in biochemistry from Rice University. While earning his medical degree at Baylor, Patel explored his interest in genetics and basic research by working in the laboratory of Zoghbi. He continued to work under Zoghbi’s mentorship as he completed his residency in neurosurgery at Baylor and MD Anderson, and developed a passion for research.

Patel’s research focuses on determining the molecular underpinnings of inherited and sporadic forms of various brain tumors, including gliomas, meningiomas, and acoustic neuromas. He is particularly interested in studying tumors that are part of inherited tumor syndromes as a means to gain insight into more common, sporadic forms of these tumors. His ultimate goal is to help translate these findings into targeted therapies to treat common and aggressive cases.

Dr. Mingshan Xue
Xue is an assistant professor in the department of Neuroscience at Baylor. He is also a member of the Cain Foundation Laboratories and the NRI.

Xue earned his undergraduate degree in biology from Fudan University in Shanghai, China. He obtained his Ph.D. in neuroscience from Baylor and completed his postdoctoral training at the University of California in San Diego.

Xue’s research explores the communication mechanisms of cortical circuits in the brain that control motor, sensory and cognitive functions, and how dysfunction and abnormal neural circuit development can contribute to the pathogenesis of neurological disorders such as autism and childhood epilepsy. Xue’s primary goal is to translate these findings into new therapeutic interventions to treat developmental disorders.

Xue is eager to begin his contribution to the NRI, saying, “The NRI offers an exciting opportunity to collaborate with world-class researchers from diverse backgrounds to improve the quality of life for patients with devastating neurological disorders.”

The NRI at Texas Children’s and Baylor is a basic research institute committed to understanding the pathogenesis of neurological diseases with the ultimate goal of developing treatments to improve the quality of life for patients.

September 23, 2014

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Beyond Batten Disease Foundation delivers the largest investment in the history of Batten Research to Texas Children’s Hospital

No treatment. No cure. Fatal. That’s what the parents of six-year old Will Herndon of The Woodlands were told when their son was diagnosed with a disorder that strikes young, otherwise healthy children. Will, now 11, is blind, and the family is heart-broken, but driven to find a cure.

“We are so blessed to live in a community that has passion to believe that even the impossible can become possible if you truly believe change can be made,” said Missy Herndon, Will’s mother and founder of The Will Herndon Research Fund at Beyond Batten Disease Foundation.

Batten Disease is a rare, inherited pediatric neurological disorder, which begins with vision loss and seizures, followed by cognitive and motor impairment. Currently, there is no cure, and the disease is fatal in the late teens or early 20s. This prognosis is unacceptable for Will Herndon’s family and the hundreds of children affected with this condition. Beyond Batten Disease Foundation (BBDF) supports research to treat and cure Batten disease that strikes young otherwise healthy children around the age of five.

Missy and Wayne Herndon, Will’s parents, jumped into action after receiving the devastating news about their son. They partnered with Beyond Batten Disease Foundation to raise funds from generous donors in The Woodlands, the Houston area and Texas. Ultimately, these contributions and others have resulted in the largest investment in the history of Batten Disease research in the United States to Texas Children’s Hospital.

“I am so grateful for the tremendous support we have received from the families of The Woodlands and beyond. Our success is a testimony to the resources; love and faith each of them have shared since day one of Will’s diagnosis. There is no doubt in my mind this community is committed and a life-changing discovery will happen,” said Missy Herndon.

Craig and Charlotte Benson of Austin created Beyond Batten Disease Foundation in 2008 after their daughter, Christiane, was diagnosed with Batten disease. In 2009, Wayne and Missy Herndon launched The Will Herndon Fund as part of the Foundation in honor of their son. The Fund’s mission is simple; SAVE WILL and the hundreds like him, and in the process create promising treatments for so many other neurodegenerative conditions.

Mrs. Herndon presented a check from the Foundation to Texas Children’s Hospital for $1.75 million. The money will go to the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. This follows another $2.5 million dollar gift in 2009 from Jim and Cherie Flores and Beyond Batten Disease Foundation. The grants totaling $4.2 million dollars are the largest investment ever made in the history of Batten research. The money allowed a team of researchers from Italy to come to Texas Children’s to conduct research. The researchers have identified six potential drug compounds that are currently in testing. The $1.75 million from the Foundation will support the critical steps necessary to eventually translate basic research into future clinical trials, ultimately to treat children in a race against time for their lives.

“We are profoundly grateful that the Beyond Batten Disease Foundation has chosen to support Batten disease research at Texas Children’s,” said Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s. “Children like Will Herndon and Christiane Benson are the inspiration for accelerating discoveries about this devastating disorder, and this next phase of research is a critical step in that process.”

The Herndons spoke for the first time to the Houston media last week about the disease that strikes children that formerly ran, laughed and sang. View KHOU coverage.

The Herndons hosted the 6th Annual HOPE Under the Stars event in The Woodlands to help fund the research to find a cure. The celebration honored the amazing support of The Woodlands community and announce the new grant at Texas Children’s Hospital featuring the most promising research in the history of the disease.

June 17, 2014

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Imagine being a parent of a child who has a rare and mysterious neurological disorder. You’ve traveled around the globe searching for answers. But, after numerous visits with physicians, the mystery remains unsolved.

What seems like a long, unsuccessful quest for answers suddenly ends with a glimmer of hope thanks to remarkable new discoveries emerging from the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s.

Under the leadership of Dr. Huda Zoghbi, a Howard Hughes Medical Institute investigator and founding director of the NRI, she and her team have unlocked the genetic and molecular mysteries behind a number of devastating neurological disorders in children with the ultimate goal of developing treatments to improve their quality of life.

The story of Grace Wilsey is a perfect example.

After a lengthy saga of visiting with physicians across the nation searching for answers about their daughter Grace’s condition, the Wilsey family of San Francisco flew to Houston to meet with Dr. Zoghbi, who helped them find the answer to their child’s perplexing condition.

Dr. Zoghbi examined Grace and recommended a new test called whole genome sequencing that was performed at the Baylor College of Medicine Human Genome Sequencing Center. The collaborative effort between Drs. Zoghbi, Richard Gibbs and Matthew Bainbridge helped identify Grace as the second American child in the world diagnosed with NGLY1 deficiency. The test decoded the DNA sequence of her genome to identify the abnormal gene. The technology helps patients and families understand the cause of neurologic diseases, as well as the risk of recurrence.

Grace is one of the only 17 known children worldwide affected by this rare condition, which is characterized by a mutation in the gene coding for N-glycanase 1, an enzyme that is thought to help recycle defective products from a cellular assembly line. Children who lack this enzyme experience varying degrees of movement disorders, suffer from developmental delays, have liver and gastrointestinal problems and cry without producing tears.

“Kristen and I are so grateful to Drs. Zoghbi, Gibbs and Brainbridge for helping us find a diagnosis for Grace and we are committed to funding research efforts that will lead to a more advanced understanding of this disease and potentially a treatment or cure for Grace and other children who are affected,” said Matt Wilsey, Grace’s father.

Grace’s rare neurological disorder has inspired the Wilsey family to fund researchers at the NRI and the Department of Molecular & Human Genetics at Baylor College of Medicine to study and develop treatments for children with NGLY1 deficiency.

“There is nothing more noble than doing research to help patients,” said Dr. Zoghbi. “Although we have a way to go in the biomedical sciences to really improve the lives of patients with neurological diseases, we are making significant progress.”

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.”

April 22, 2014

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.