Stories about: Translational Neuroscience Center

Earlier treatment may help reverse autism-like behavior in tuberous sclerosis

research in Purkinje cells may help complete the puzzle of autism
(IMAGE: PETER TSAI)

New research on autism has found, in a mouse model, that drug treatment at a young age can reverse social impairments. But the same intervention was not effective at an older age.

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Finally in the game: Patient in drug trial for PTEN mutation seems to benefit

The first patient to receive everolimus for PTEN hamartoma tumor syndrome
Preston Hall is the first Boston Children’s Hospital patient with PTEN hamartoma tumor syndrome to be treated with everolimus. At left, Siddharth Srivastava, MD. (PHOTO: SEBASTIAN STANKIEWICZ/BOSTON CHILDREN’S HOSPITAL)

From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his failure to thrive. Preston eventually bounced back, but the underlying cause of his complex medical problems remained a mystery. All the while, his fraternal twin Luke overcame more typical preemie issues by age 3.

“At one point Preston had 20 different diagnoses,” his mother, Jennifer Hall, says. “It wasn’t until he was about 4 years old that we started to think his delays were not due to prematurity alone.”

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Putting patients first in the translational research pipeline

During a follow-up visit, pediatric hematologist/oncologist Sung-Yun Pai, MD, hugs a patient who received gene therapy for X-linked severe combined immunodeficiency.
During a follow-up visit at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, pediatric hematologist/oncologist Sung-Yun Pai, MD, hugs a patient who received gene therapy for X-linked severe combined immunodeficiency.

This is part II of a two-part blog series recapping the 2018 BIO International Convention. Read part I: Forecasting the convergence of artificial intelligence and precision medicine.

The hope to improve people’s lives is what drives many members of industry and academia to bring new products and therapies to market. At the BIO International Convention last week in Boston, there was lots of discussion about how translational science intersects with patients’ needs and why the best therapeutic developmental pipelines are consistently putting patients first.

As a case in point, Mustafa Sahin, MD, PhD, of Boston Children’s discussed his work to improve testing and translation of new therapies for autism spectrum disorder (ASD). As a member of PACT (Preclinical Autism Consortium for Therapeutics) and director of Boston Children’s Translational Neuroscience Program, Sahin aims to bridge the gap between drug discovery and clinical translation.

“Our mission is to de-risk entry of new therapies in the ASD drug discovery and development space,” said Sahin, who is also a professor of neurology at Harvard Medical School.

One big challenge, says Sahin, is knowing how well — or how poorly — autism therapies are actually affecting people with ASD. Externally, ASD is recognized by its core symptoms of repetitive behaviors and social deficits.

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Prescriptions for accelerating neuroscience translation: Q&A with Mustafa Sahin, MD, PhD

Mustafa Sahin Translational Neuroscience CenterMustafa Sahin, MD, PhD, a neurologist at Boston Children’s Hospital, directs the Translational Neuroscience Center, which he founded several years ago to accelerate neuroscience research to the clinic. He also directs the hospital’s Translational Research Program. In this interview with Boston Children’s Technology and Innovation Development Office (TIDO), Sahin talks about his motivations as a clinician-scientist and how he works with industry partners to move discoveries forward.

What drives you as a scientist? 

What drives me as a scientist has changed over the course of my career. It was my fascination with experimentation that first got me interested in biology. In high school, I took vials of fruit flies to a radiation oncology department and tested the effects of radiation on the mutation rate. When I came to the U.S. to study biochemistry in college, I was drawn to the mysteries of the brain. While my PhD and postdoctoral work continued on very fundamental questions about how neurons connect to each other, advances in genetics and neuroscience allowed me to bring rigorous basic science approaches to clinical questions. So more and more, my science is driven by a need to bring treatments to the patients I see in the clinic. Fortunately, this is no longer a long-term, aspirational goal, but something within reach in my career.

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