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LanHuang160optLan Huang, PhD of Boston Children’s Hospital Receives Lisa's Sturge-Weber Foundation Research Fellowship Award

MT. FREEDOM, N.J. – May 11, 2016 -- The Sturge-Weber Foundation (SWF), a 501 (c)(3) nonprofit organization, has named Lan Huang, PhD of Boston Children’s Hospital the recipient of the inaugural Lisa’s Sturge-Weber Research Fellowship Award. Research is defined as “patient-oriented research” conducted with human subjects, or “translational research” specifically designed to develop treatments or further various areas of scientific discoveries within Sturge-Weber Syndrome (SWS).

 

Dr. Huang is an instructor with the Vascular Biology Program at Boston Children’s Hospital. Her recent work has established that the GNAQ mutation in SWS and facial capillary malformations (CMs) is enriched in endothelial cell (EC) populations. The work will extend these findings and include a study of ECs in brain. Fractionation by fluorescence-activated cell sorting (FACS) revealed the EC enrichment. In addition, triple negative stromal cells (negative for various markers) had mutant alleles.

 

“We congratulate Dr. Huang whom has worked tirelessly towards the advancement of SWS research,” said Karen L. Ball, SWF President and CEO of the SWF. ”The Sturge-Weber Foundation is honored to present Dr. Huang with the inaugural Lisa’s Sturge-Weber Research Fellowship Award and look forward to the positive impact that she will make in the lives of the patients and families with SWS.”

 

“We are delighted with the selection of Dr. Huang as the first recipient of the fellowship and are excited about her proposed research,” stated the family who donated the funds to establish the inaugural award. The family wishes to remain anonymous to focus the attention on "Lisa's Sturge-Weber Foundation Research Fellowship Award."

 

About Boston Children's Hospital

Boston Children’s Hospital is home to the world’s largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including seven members of the National Academy of Sciences, 11 members of the Institute of Medicine and 10 members of the Howard Hughes Medical Institute comprise Boston Children’s research community. Founded as a 20-bed hospital for children, Boston Children’s today is a 397-bed comprehensive center for pediatric and adolescent health care. Boston Children’s is also the pediatric teaching affiliate of Harvard Medical School. For more, visit our Vector and Thriving blogs and follow us on our social media channels: @BostonChildrens, @BCH_Innovation, Facebook and YouTube

 

 

Laymen's Fellowship Summary:Cell350opt

Aim 1: Dr Huang will sort and isolate the supporting cells that are intermixed with and/or surrounding the brain capillary malformation in Sturge-Weber syndrome. The specimens will be obtained from tissue that would normally be discarded after a neurosurgical procedure. At present, these cells are not yet well-characterized but the hypothesis is that these cells interact with and are affected by the GNAQ mutation-carrying cells within the capillary malformation.

 

Aim 2a: Dr Huang will isolate GNAQ mutation-carrying endothelial cells from brain tissue from 3-5 SWS patients. Endothelial cells are the cells that line the inner surface of all blood vessels in the body, including capillary blood vessels. As in Aim 1, specimens will be obtained from neurosurgical procedures. The GNAQ mutation- carrying endothelial cells will be used to decipher how the mutation alters the behavior of capillary endothelial cells and affects how these cells interact with neuronal (brain) cells. See figure below.

 

Aim 2b: RNA-seq is a method that allows one to determine all of the genes that are expressed in a cell and at what level. When a mutation is present, the levels and types of expressed genes can be altered in specific ways that provide clues about what is going wrong in the mutant cell. Dr. Huang will use RNA-seq to understand how the GNAQ mutation affects brain capillary endothelial cells.

 

Aim 3: It is widely known that cells communicate with their neighboring cells to stimulate or inhibit a variety of functions. Miscommunication between blood vessels and neurons may cause neuronal dysfunction. Dr Huang will study how the GNAQ mutation-carrying endothelial cells cause abnormal processes in the surrounding neurons. She will set up endothelial-neuronal co-cultures using the cells isolated in Aim 2 and neuronal cells provided by Dr. Mustafa Sahin’s laboratory to study how GNAQ-mutation carrying endothelial cells affect neuronal cells. 

 

Lisa's Research Fellowship Application

 

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The mission of the SWFIRN is to provide a forum within the domestic and international medical and research community to foster collaborative research, consensus guidelines, and develop improved treatment models while facilitating clinical studies. 

 

 

 

 First SWFIRN Meeting  September 12-13, 2016

 

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 RegisterNow

 

 

 

 

 

Peach100optSWFIRN Atlanta is accepting Research Abstract, Clinical Issues Panel, and Issue Panel Proposal submissions on the following topics: Clinical Outcomes, Conceptual Papers, Cost Studies, Economic Outcomes, Patient-Reported Outcomes & Patient Preference, Research on Methods, Use of Real World Data. 

 

If you have any questions concerning submissions please contact This email address is being protected from spambots. You need JavaScript enabled to view it.

 

 

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    Submission Deadline is July 1, 2016

 

 

 

 

 

 

The Sturge-Weber Foundation is happy to announce these new grants

Report from Charles Swindell, PhD, SWF Consultant

 

Request for grant applications for financial support of research related to Sturge-Weber syndrome was announced by the Foundation this past September 2013. We were delighted to receive a number of impressive applications.  

 

These applications were reviewed by The Medical Advisory Board:   Alex V. Levin, MD, MHSc, FRCSC, Wills Eye Institute; Chair, SWF Medical Advisory Board Mustafa Sahin, MD, PhD, Boston Children’s Hospital; Member, SWF Medical Advisory Board Michael H. Gold, MD, Medical Director, Gold Skin Care Center; Member, SWF Medical Advisory Board as well as two independent expert reviewers.  

 

Two applications— Jonathan Pevsner. PhD.  Associate Professor, Johns Hopkins University School of Medicine and Kennedy Krieger Institute and Kristen Kelly, M.D. Professor , University of California, Irvine – have been selected for funding.

 

We are delighted to be able to support the kind of high quality research programs that Jonathan and Kristen will undertake and are confident that the achievement of their objectives will hasten our progress toward better care and treatment options for those with SWS.  We look forward to hearing of their progress.   Brief summaries of Jonathan’s and Kristen’s research programs follow.

 

Jonathan Pevsner, PhD, Associate Professor, Johns Hopkins University School of Medicine and Kennedy Krieger Institute. 

“From discovering the Sturge-Weber mutation to basic research enabling treatment strategies.”

First year:  $29,796

Second year:  $25,604

Total:  $55,400  

We recently identified mutations in the GNAQ gene as the cause of Sturge-Weber syndrome (SWS). We did this in collaboration with Dr. Anne Comi (Director, Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute) and Dr. Douglas Marchuk (Duke University).

 

To do this we sequenced the genomes of affected and unaffected parts of the body of three individuals, then confirmed the finding by sequencing 97 samples from 50 individuals

 

GNAQ is a gene that specifies a protein, Gαq, that regulates pathways inside cells controlling basic functions such as growth of cells and their ability to respond to signals. Gq responds to a chemical messenger (called GTP) by binding it, thus activating pathways inside cells, and then breaking it down.

 

In SWS Gαq is persistently activated to a small but significant extent. If Gαq is like a switch with “on” and “off” positions, in SWS the switch is locked into the partially “on” position.

 

We propose experiments to further understand the basic biology of SWS and how to develop treatment strategies.

(1) We propose to set up a screen, made available to the entire SWS research community, to sequence DNA samples from patients. Because of the nature of the mutation—from about 82% to 99% of DNA in a SWS sample are normal, while just 1% to 18% harbor the mutation—specialized DNA sequencing is needed.

(2) We propose to create an antibody that is specific to the mutant form of Gαq. This will allow us to determine which cell type(s) harbor the Gαq mutation. This antibody will also be shared with the research community and is likely to greatly facilitate SWS research.

(3) We propose to characterize the biochemical changes that occur in the mutant Gαq. This includes studying its GTP binding properties, its protein interaction partners, and the receptor(s) it is coupled to. This information is essential to develop treatment strategies.

 

Kristen Kelly, MD, Professor, University of California, Irvine 

“Vascularized Port Wine Stain Skin Model for Evaluation of Cell Types in Lesion Pathogenesis.” 

First year:  $14,973

Second year:  $15,025

Total:  $29,998  

The cause of port wine stain birthmarks (PWS) is unknown and this makes development of good new treatments difficult. Our experiments will help us better understand what causes PWS in order to identify targets for treatment.

 

It is not known whether the problem is due to the cells that form blood vessels or to an abnormality in their environment. First, we will take biopsies from PWS and separate the three main cell types found in these lesions: the cells that form blood vessels, support cells, and the cells of the top-layer of skin.

 

We will construct a model of a PWS using these cells. In a series of experiments we will mix and match normal and PWS variants of the three main cell types to determine which cell type(s) contribute most to the disease. In addition, we will test the different cell types to determine which of them contains the gene change that was recently identified by researchers supported by the Sturge-Weber Foundation.

 

A better understanding of how blood vessels in PWS are growing abnormally and what cells are primarily responsible for this change is the next important step for research supported by the Sturge-Weber Foundation and together we can use knowledge to develop targeted treatments to eliminate the physical and psychosocial trauma associated with these lesions.