1. Jonathan Pevsner, PhD

    Jonathan Pevsner is an Associate Professor in the Department of Neurology (Kennedy Krieger Institute) and the Department of Psychiatry (Johns Hopkins Medicine). He received his bachelor's degree from Haverford College, his Ph.D. from Johns Hopkins, and did his postdoctoral training at Stanford University. His laboratory studies the genetics of childhood brain disorders, and he began research on Sturge-Weber syndrome in 1999. He is the recipient of multiple teaching awards and wrote a textbook, Bioinformatics and Functional Genomics (2009).

    A major goal of Sturge-Weber syndrome research has been to identify the underlying genetic mutation. Recent developments in technology allow us to determine the sequence of essentially all 3 billion base pairs in the human genome. We hypothesized that by sequencing the genome twice--from an affected part of the body (such as a port-wine stain) and from an unaffected part (such as blood)--we could compare the sequence within an individual to identify an altered gene. We obtained pairs of whole genome sequences from three individuals with Sturge-Weber syndrome and identified a single base pair change in the gene GNAQ on chromosome 9. This mutation occurred selectively in affected samples. We then confirmed this mutation by exhaustive sequencing of 90 samples from 50 individuals. This showed that nearly all affected skin samples, and many affected brain samples, harbor a mutation in GNAQ. This mutation is somatic (that is, it occurs early in development but is not inherited from the parents), and mosaic (it occurs in some but not all parts of the body; and within an affected region the amount of mutated sequence ranges from 1% to 18%). The full name of GNAQ is guanine nucleotide binding protein (G protein), q polypeptide. This gene encodes a protein, Gaq, that has been extensively studied for over 20 years. Gaq acts as a switch on the inside wall of many cells. When a variety of receptors on the cell surface receive a signal from outside the cell, Gaq has a key role in activating downstream pathways. The specific mutation that occurs in Sturge-Weber syndrome and port-wine stains persistently activates Gaq, inappropriately activating downstream pathways. Possible therapeutic approaches to Sturge-Weber syndrome include applying drugs to down-regulated Gaq activity.

    # vimeo.com/139864103 Uploaded 115 Plays 0 Comments
  2. Jack L.. Arbiser, MD, PhD

    Jack L. Arbiser, MD, PhD is a Professor in the Department of Dermatology and Winship Cancer Institute at Emory University. Dr. Arbiser joined the Dermatology Department at Emory after completing his PhD and medical school training, internship, and residency at Harvard Medical School, followed by a three-year Howard Hughes Fellowship in the laboratory of Dr. Judah Folkman. Dr. Arbiser’s research focuses on the regulation of angiogenesis and tumorigenesis by signal transduction pathways. His laboratory has chosen three model systems to study these relationships. The first area is the common vascular birthmarks of children and their malignant counterparts, angiosarcomas. The second application of these studies is benign neoplasms which develop in the autosomal dominant syndrome tuberous sclerosis (TS). The third application of these studies is in the pathogenesis of malignant melanoma. In addition, Dr. Arbiser has a long history of development of small molecules as antiangiogenic and antitumor therapies. The Arbiser laboratory has discovered the antiangiogenic and in vivo antitumor properties of honokiol, and has synthesized honokiol analogs along with Imipramine Blue, a novel NADPH oxidase inhibitor with systemic availability and antitumor efficacy. As a result of this research, Dr. Arbiser has authored or co-authored 170 peer-reviewed publications as well as many review articles and book chapters.


    Three types of endothelial diseases are present in children. The most common is hemangioma of infancy, which arises rapidly, undergoes proliferation, followed by spontaneous involution. Severe cases of this can be treated with propranolol, a beta blocker that inhibits NADPH oxidase. The second most common type are nonregressing vascular malformations, which include Sturge-Weber disease. We have found activation of pS6 kinase in these lesions and have modeled them by overexpression of Akt. The rarest type are malignant vascular lesions, which we have modeled by overexpression of ras in endothelial cells. The current unmet need in vascular malformations are ways of causing them to undergo physiologic regression. Based upon our findings, clinical trials of rapamycin have been performed on vascular malformations and lymphangiomas, resulting in efficacy. In addition, we have found a biomarker that distinguishes hemangiomas of infancy from vascular malformations, namely Wilms tumor 1 (WT1). Further areas for exploration include induction of endoplasmic reticulum stress (ER stress) in vascular malformations, either by physical methods (laser, cryotherapy) or by novel drugs.

    # vimeo.com/139846872 Uploaded 53 Plays 0 Comments
  3. Joseph Morelli, MD

    Dr. Morelli received his BA degree Summa Cum Laude with Honors in Biophysics from the University of Pennsylvania and his medical degree from Harvard University. Following completion of his Pediatric residency at the University of Colorado he returned to Harvard University Wellman labs for a fellowship in Photobiology. He then completed his Dermatology residency and an Immunodermatology fellowship at the University of Colorado. Following completion of his Immunodermatology fellowship, he joined the faculties of Dermatology and Pediatrics and he has been there since that time. He is also Section Head of Pediatric Dermatology at the Colorado Children’s Hospital.


    The laser treatment of port wine stains began with non specific lasers in the 1970’s. These were largely unsuccessful because of the severe scarring associated with the treatments. The theory of selective photothermolysis elucidated in 1983 led to the development of the initial vascular specific pulsed dye lasers. These lasers were much safer and the results of treatment were much improved over previous lasers, but complete clearing of treated port wine stains remained uncommon. Several changes in the laser parameters were made to try to improve these results, but most were not helpful. One of the problems is that although the laser treatment destroys some of the excess blood vessels in the port wine stain, this sets up a wound healing response which leads to the growth of new blood vessels, so it is two steps forward and one step backwards. Inhibitors of new blood vessel growth used in conjunction with laser treatment may increase the efficacy of the treatments. Rapamycin is one such inhibitor. The use of rapamycin or yet to be developed inhibitors of blood vessel growth need further study. It is important for the members of the Sturge-Weber Foundation to participate in any study which has the potential to improve laser treatment outcomes.

    # vimeo.com/139850700 Uploaded 30 Plays 0 Comments
  4. Emily McCourt, MD

    Emily A. McCourt grew up in the suburbs of New York City. After a short career teaching seventh grade science, she attended medical school at the University of Buffalo (SUNY-Buffalo). Dr. McCourt completed her internship at Exempla St. Joseph’s Hospital in Denver followed by a residency in Ophthalmology at the University of Colorado. In 2012 she completed a fellowship in pediatric ophthalmology at Children's Hospital Colorado and joined the faculty of the University of Colorado as an Assistant Professor. She is currently the director of pediatric ophthalmology research.


    Glaucoma and retinal detachment are the two most common eye disorders in patients with Sturge-Weber Syndrome. Both diseases require intense medical and surgical care. Additionally, retinal detachment and glaucoma can cause vision loss despite prompt and meticulous treatment. Current treatment modalities, an understanding of the mechanism of disease, as well as new treatments for eye disorders associated with Sturge-Weber will be discussed.

    # vimeo.com/139858423 Uploaded 57 Plays 0 Comments
  5. Mennato Forgione, Director of Business Development at Ce3 Inc.
    Mennato is a sales professional with 15 years of clinical operations experience in neurophysiology, participated in multiple clinical research projects in epilepsy. Started his career at the “Bambino Gesu`” Children's Hospital in Rome, Italy and later led the technical team of the Comprehensive Epilepsy Center at Columbia Presbyterian Hospital in New York from 1991 to 2000. Mennato is well acquainted with the clinical drug development process, from his experience in selling medical/diagnostic devices and CRO services for the last 14 years. In his current role, he provides Bio-Pharmaceutical clients with Ce3’s arrays of key services and customized solution to their clinical development challenges in this highly regulated environment.


    The process of developing a new therapeutic begins with preclinical development and continues through increasingly complex and costly phases of clinical testing to support approval for marketing. On average it takes from 12-15 years for a new drug to be brought to market, less than 10 percent of potential therapeutics that reach clinical development receive approval from regulatory agencies. The average cost of bringing a new drug to market is around $800 million, therefore drug developers in the past have focused their efforts on therapeutics with the highest potential for financial returns, leaving potential therapies for rare diseases behind.

    However, in the last few years we have seen a considerable change of attitude within the pharmaceutical industry toward rare diseases. The success of Genzyme in gaining reimbursement for rare lysosomal storage disorders such as Gaucher disease, Fabry disease, and Pompe disease, showed the potential to derive returns from drugs that have a big impact on a small-disease population with unmet medical needs by enabling companies to negotiate smaller clinical programs with the regulatory agencies and to gain significant pricing power for approved products, making the risk/reward characteristics more attractive.

    The CRO industry is now enabling many more product development programs focused on rare diseases than ever before and new collaborative models and other innovative strategies emerged from public-private partnerships initiatives are speeding-up the development of new therapeutics.

    Furthermore disease-specific foundations have increasingly assumed a more active role in propelling the drug development process in their areas of competence, by providing philanthropic capital as well as research tools and access to patients to stimulate therapeutic development.

    All these Industry and regulatory changes and more importantly, the recently discovered findings in the genetic basis of Sturge-Weber syndrome are positively impacting research activities, paving the way for the development of more effective therapeutics, bringing new hopes for Sturge-Weber syndrome’s patients and their families.

    # vimeo.com/139865063 Uploaded 20 Plays 0 Comments

2013 Sturge-Weber Foundation International Conference-Denver

Sturge-Weber Foundation PRO

Here are several presentations by experts such as esteemed doctors recorded at Sturge-Weber Foundation Conference in Denver.

Browse This Channel

Shout Box

Heads up: the shoutbox will be retiring soon. It’s tired of working, and can’t wait to relax. You can still send a message to the channel owner, though!

Channels are a simple, beautiful way to showcase and watch videos. Browse more Channels.