February 9, 2016

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Wangler, Yamamoto awarded SFARI grant for autism spectrum disorder study

Drs. Michael Wangler and Shinya Yamamoto recently obtained a research grant from the Simon’s Foundation for Autism Research Initiative (SFARI) to advance their study on autism spectrum disorders.

Their study titled, “In vivo functional analysis of autism candidate genes” is one of five projects selected for research funding by the SFARI.

Autism spectrum disorders (ASDs) are highly heritable but have a complex genetic architecture. Whole-genome sequencing has been used to identify many potential genetic mutations that may be responsible for ASD. However, interpreting the disease relevance of these enormous numbers of individual variants has been difficult because many of them are poorly characterized.

In their study, Wangler and Yamamoto will use a fruit fly model system to study a subset of 300 autism candidate genes to determine their role in disease causation and progression. They predict that using this powerful genetic system will provide much-needed information on the biological mechanisms underlying ASDs.

Besides being on the NRI faculty, Wangler and Yamamoto are assistant professors in the department of Molecular and Human Genetics at Baylor.

Ballabio to receive the 2016 Louis-Jeantet Prize

Dr. Andrea Ballabio, founder and director of the Telethon Institute of Genetics and Medicine (TIGEM), Italy, professor at Baylor and faculty member at the NRI, has been selected to receive the 2016 Louis-Jeantet Prize for Medicine. He will share this award with biochemist John Diffley, associate research director at the Francis Crick Institute, United Kingdom.

The Louis-Jeantet Prize for medicine is awarded each year by the Louis-Jeantet Foundation to experienced researchers who have distinguished themselves in the field of biomedical research in Europe. The prize is intended to encourage the continuation of innovative research projects of major importance to fundamental or clinical medicine.

Ballabio was recognized for his contributions in advancing the understanding of molecular mechanisms controlling the function of lysosomes in health and disease.

Lysosomes are organelles responsible for the degradation of cellular waste. A growing number of diseases are associated to lysosomal dysfunction such as neurodegenerative diseases, cancer, obesity and infections. Ballabio’s group identified a master gene that globally controls lysosomal function and promotes intracellular clearance of accumulating pathological materials. These observations revealed a new biological pathway and provided a tool to modulate lysosomal function to treat human diseases.

Ballabio will receive the award during a special ceremony in Geneva, Switzerland on Wednesday, April 20.

September 9, 2015

91015stresstostrength640While most five year olds are gradually building their independence – learning how to feed, dress and groom themselves – Hector Garces depends on his parents to do a lot of these things for him.

“Our son wears diapers and cannot talk so he uses nonverbal cues to communicate with us,” said Hector Garces. “He can still walk, but the hardest part is realizing that our son’s illness will get worse.”

Hector suffers from a rare, genetic and incurable disorder called Sanfilippo Syndrome Type A. Children with this disease are missing an essential enzyme that breaks down a complex sugar called heparin sulfate. When this sugar accumulates in the brain, it can cause progressive brain damage, learning disabilities and behavioral problems. Many children with this syndrome lose their ability to walk, talk, eat and even breathe.

While every parent endures stress, studies show parents of children with developmental disabilities experience depression and anxiety more often. For the Garces’ family, they’ve learned how to cope with these emotional challenges thanks to a new support program offered at Texas Children’s Hospital.

Dubbed “From Stress to Strength,” this empowering program provides a much-needed support network for caregivers and equips them with life skills on how to emotionally care for themselves while being excellent caregivers to their children.

“Parents learn how to use their character strengths to reduce stress and practice exercises to incorporate gratitude, forgiveness and optimism in their daily role as caregivers,” said Texas Children’s geneticist Dr. Christian Schaaf, an assistant professor of molecular and human genetics at Baylor College of Medicine and a researcher at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s.

Schaaf and his Baylor and Texas Children’s colleagues – Dr. John Belmont, Madelyn Gillentine and Susan Fernbach – modeled this program after a Vanderbilt University curriculum course called Positive Adult Development. The program consists of two, 4-hour workshops and is split into one-hour blocks, with each block focusing on a different coping mechanism such as how to “accept and let it go,” “recognize what is important in the moment,” and “be mindful of what is and what is not in my control.”

“Our plan is for these workshops to become family-driven,” said Susan Fernbach, director of genetic outreach at Texas Children’s, “and that parent leaders will serve as facilitators for some of the sessions where they share their experiences and explain how they handled particularly challenging situations.”

Since the program’s launch in April, the Garces family has learned how to channel their anxiety into positive action, while not wasting energy on things that they cannot control.

“A powerful aspect of the program was realizing the power of forgiveness,” Garces said. “The program helped me pause and think about our son’s situation from a different mindset. After meeting with other families, it was a great feeling to know that we are not alone.”

Schaaf says programs like “From Stress to Strength” can be enormously helpful to families transitioning from feeling overwhelmed and alone to embracing their child’s and family’s strengths.

“I am proud to be part of this team spearheading a support system for these parents here in Houston, and my hope is that similar programs will begin to pop up around the country,” Schaaf said.

For more information and to sign up for the next “From Stress to Strength” program, contact Susan at Ext. 2-4182.

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.