News About TNC Faculty

TNC Newsletters:
Volume 1: January 2015
Volume 2: July 2015
Volume 3: February 2016
Volume 4: September 2016

SPG47: When rare disease research gets a push from parents
Vector Blog - Read More

Two toddles diagnosed with the same ultra-rare disease meet; their friendship ignites an international collaboration of renowned institutes to stop progression
Parents, Kasey and Chris Edwards, had a difficult time processing the diagnosis. It is a hit to any parent to hear that their child has a severely debilitating, neurodegenerative disease. But to be informed that their daughter Robbie was one of only 9 diagnosed individuals in the world, all whom live in the Middle East, it was overwhelmingly surreal. Reality was hard to face, for when they searched the internet for this disorder, almost nothing came up. No research efforts to halt progression, no support groups, no informational website.
The words “Hereditary Spastic Paraplegia SPG 47” changed the Edwards family’s life course in an instant. This is a disease that, without intervention, is expected to progress towards paraplegia, with irreparable cognitive impairment, over the coming years. Those diagnosed are non-verbal or have very limited speech. 
Over the course of a couple of months, Kasey and Chris went through a grieving process for the life that they knew they were losing. But they had always been results-driven and action-oriented people. Waiting and hoping was not an option. Doing was the only way to move forward.
Immediately, Kasey immersed herself in research about Hereditary Spastic Paraplegia (HSP) and joined many support groups. On a Facebook page dedicated to parents of children with HSP she met Kevin Duffy, whose toddler daughter, Molly, had also been recently diagnosed with SPG47, the girls were the only two known cases in the U.S. 
The girls found a friend in each other and the families, a support system like no other. The parents, too, instantly bonded. Both families were facing an awareness that there would be no research, no clinical trials for their two girls unless they initiated it. Together, they started a non-profit, Cure SPG47: They aim to improve the quality of life for children impacted by SPG47 by accelerating the research for a cure or treatment. 
Months of dedicated investigation and networking resulted in a cross-continental and international dream team of doctors and researchers who met to discuss a plan of action, hosted by the Translational Neuroscience Center at Boston's Children's Hospital this week. This was a meeting that gained momentum, for as more experts agreed to meet, talk of this endeavor spread and more specialists and families asked to join. In addition to renowned researchers and doctors from across the states and overseas, the attendees also consisted of Boston Children’s Basil Darras, Irina Anselm, Gerry Berry, Kira Dies, Robin Kleiman, Darius Ebrahimi-Fakhari and Mustafa Sahin. This meeting resulted in determining the most effective and promising treatment to pursue, by accomplished doctors, and a reality that there may be a chance to stop this disease’s devastating progression. Research will be costly, with millions of dollars needed to fund the process. 
This urgency of finding treatment has been escalated by the fact that Robbie is showing signs of hypertonia, proof that the incapacitating physical progression of this disease has manifested and will only continue to worsen. 
Since first raising awareness of SPG 47 in December, the Edwards and Duffy families have added several more equally perseverant parents. Three more children have received this diagnosis. Six more parents sat, confused and scared, while they heard the words “Hereditary Spastic Paraplegia SPG 47”. But, this time, these parents found something when they searched the internet. They found hope. Read More

Impaired Recycling of Mitochondria in Autism: October 2016
Medical Press - Read More

Advances and Future Directions for Tuberous Sclerosis Complex Research: 2016
Pediatric Neurology
Recommendations from the 2015 Strategic Planning Conference - Read More

The Genetics of Early-Onset Psychosis: Could it Aid Understanding of Schizophrenia? 
Vector Blog
Delving Into DNA (Robin Kleiman, PhD) - Read More

Sturge-Weber Foundation Research Award: May 11, 2016 -- The Sturge-Weber Foundation has named Lan Huang, PhD, of Boston Children's Hospital the recipient of the inaugural Lisa's Sturge-Weber Research Fellowship Award. Read More

Data Gaps Limit The Translational Potential of Pre-clinical Research: 
Science Translational Medicine
Robin Kleiman, PhD and colleague Michael D. Ehlers, MD, PhD, Chief Scientific Officer of the Neuroscience & Pain Research Unit, Pfizer Inc., review the lack of published preclinical data regarding the selection of dosing regimens in neuroscience and propose alternatives to current study designs. Read More

Emerging Knowledge In Neurodevelopmental Disorders:
Mustafa Sahin, MD, PhD and colleague Mriganka Sur, PhD, Director of the Simons Center for the Social Brain at MIT, discuss the progress made and obstacles faced in neurodevelopmental disorders research and the importance of addressing the neural circuitry, cell types and common signaling pathways in order to leverage the heterogeneity of these disorders into precision medicine. Read More 

Tuberous Sclerosis: Clinical Trial May Be What Halted Charlotte’s Seizures:
Thriving, Boston Children's Hospital's Pediatric Health Blog
A profile of a child with tuberous sclerosis complex involved in a Boston Children’s clinical trial to investigate the effect of a study drug (everolimus) on seizures. Read More

A Drug for Autism?
The Boston Globe
Profiles of children with tuberous sclerosis complex involved in a Boston Children’s clinical trial to investigate whether the study drug (everolimus) can improve neurocognition. Read More

Boston Children’s Hospital Launches New Multi-disciplinary Translational Neuroscience Center (TNC):
Autism Consortium (blog)
Leading physicians and scientists at Boston Children’s Hospital (BCH) formed the collaborative Translational Neuroscience Center (TNC) in January to improve the lives of children and adolescents with brain and other nervous system disorders. Mustafa Sahin, MD, PhD, an autism researcher and director of the TNC, told the Autism Consortium recently that one of the Center’s first goals will be accelerating the discovery of drugs and other new interventions for children with autism spectrum disorder.

Autism’s Unexpected Link to Cancer Genes:
The New York Times
Mutations in rare disease genes, PTEN and TSC, can cause the development of tumors as well as autism. Research is actively underway to discover treatments for both conditions. Read More

Selectively Silencing Itch: Itch-specific Nerves Let In Relief:
Vector, Boston Children’s Hospital’s Science and Clinical Innovation Blog
The lab of Clifford Woolf, MB, BCh, PhD, has found distinct sets of itch-generating neurons, explaining why current itch therapies often fail and suggesting new ways to curb itch selectively. Read More

Scientists Begin To Unravel Long-term Effects of Early Adversity:
The Boston Globe
Researchers are making new findings as to how social isolation early in life not only affects behavioral development but cognitive development as well. Read More

Genetic Studies Find Root Causes of Epilepsy:
Vector, Boston Children’s Hospital’s Science and Clinical Innovation Blog
Ann Poduri, MD, is mapping genetic causes of hemimegalencephaly, Ohtahara syndrome and other rare epilepsy conditions. Her findings suggest new treatment approaches, perhaps for more common forms of epilepsy. Read More

A New Era in Spinal Muscular Atrophy:
Nature Medicine
Basil Darras, MD, is leading the Boston Children’s arm of a Phase I clinical trial of a targeted treatment for SMA: ISIS-SMNRx. The drug, administered intrathecally, compensates for loss or damage to the SMN1 gene by boosting activity of a backup copy of SMN2. Read More

Visionary Research on Rett Syndrome:
Vector, Boston Children’s Hospital’s Science and Clinical Innovation Blog
Animal studies suggest a target for undoing damage to brain circuits in Rett syndrome and raise the question of whether vision could serve as proxy for evaluating brain function. Read More

Using Stem Cells to Find Autism Treatments:
Vector, Boston Children’s Hospital’s Science and Clinical Innovation Blog
In a four-way collaboration between Boston Children’s, the Harvard Stem Cell Institute, Harvard Medical School and Roche, skin cells from patients with autism will be used to make pluripotent stem cells, which will in turn be made into neurons for clinical evaluation and drug testing. Read More

A Better Test for Finding Autism Genes?
Results from a joint study conducted by the Autism Consortium and Boston Children’s reveal that a secondary approach to testing for autism may be more efficient than the current primary approaches. The test, called chromosomal microarray analysis, has detected the underling genetic cause of 7 percent of autism cases. Read More