The Meeting Begins

The Scientific Workshop has opened, diving immediately into a session of five presentations on various aspects of cavernous angioma signalling and molecular biology.  I’m looking at a room that is now filled nearly to capacity with 40 scientists representing more than 20 different laboratories.  The countries represented include the US, the UK, France, Italy, Spain, Germany, Israel, Brazil, and Canada. Likely because of our European venue, we have an explosion of European researchers compared to previous years – half of the researchers in attendance are from EU countries that have three or more labs doing this work (France, Italy, Germany).

Amy Akers' final preparations

The first presentation was given by Dr. Yuan Zhu of the University of Euisberg-Essen in Germany on the topic of  ”Inactivation of Dll4-Notch signaling in CCM3 gene mutated familial CCM and in CCM3-silenced endothelial cells”. This is Dr. Zhu’s second year presenting at our conference. Her presentation received several challenging questions during discussion time that are certain to strengthen the work she is doing. These critiques are welcomed, particularly since the work being presented by each researcher is still very much in process.

Michelle Kean

Next, Michelle Kean of the Samuel Lunenfeld Research Institute in Toronto, Canada presented on “Structure-function analysis of the STRIPAK complex identifies direct interactions between CCM3/PDCD10 and other STRIPAK members and reveals a role for STRIPAK in Golgi polarization.”  This presentation brought another dimension to understanding of CCM3 molecular biology.

Barbara Costa of the Weizman Institute in Israel presented work that her lab has done in collaboration with Michelle Kean’s lab – a collaboration that was born at a previous Angioma Alliance Scientific Workshop. Her topic “A GCKIII kinase mediates CCM2-dependent death in medulloblastoma cells” should not be understood as having to do with medulloblastoma cancer.  CCM2 does not cause medulloblastoma cancer. Rather, she is using this system to better understand the function of CCM2.

Ian Stuart and Krystle Kontoh

During the break, Ian Stuart of Cavernoma Alliance UK and Krystle Kontoh  of Genetic Alliance UK arrived. Their exhibit helps to underscore what an international effort this has become. It also illustrates ways in which patients and researchers are working together in many countries.

Juan Zalvide from the University of Santiago de Compostela in Spain presented “CCM3-dependent redistribution of Mst4 upon oxidative stress is essential for phosphorylation of Ezrin/Radixin/Moesin and protects cells from necrosis.” This work examines the role of CCM3 in a cell’s response to oxidative stress.

The day’s final presentation was “Identification of a novel KRIT1 interactor involved in the control of actin cytoskeleton dynamics and cell resistance to oxidative stress.” This talk had two presenters – Francesco Retta from the University of Torino and Lorenza Trabelzini of the University of Siena. These two individuals represent two labs of a growing network that, along with patients, are creating an Angioma Alliance type organization in Italy.  This organization is mentioned in the Spring 2011 Angioma Alliance newsletter and has continued to expand since that article.

The day is ending with an extended discussion period and a dinner for the scientists. It has already been a great day. I have been watching smiles and hugs as scientists who see each other only at our meeting greet, listening to pointed discussions that will refine already quality work, and hearing sounds of surprise when novel, unexpected results are presented. Even without a degree in molecular biology, I can understand the body language being spoken here – the scientific workshop is off to a fine start.

 

Posted on by Connie Lee in For Patients, News | Comments Off

Live Blogging from the Scientific Workshop #1

We are almost at the beginning of the 2011 Angioma Alliance Pathobiology of Cerebral Cavernous Malformations Scientific Workshop. In less than an hour, our 7th annual international meeting will kick off. It will run across three days Wednesday afternoon, Thursday morning, and all day Friday.

I’m planning to blog some of the activities of the day as they happen. I can’t write about the content of the presentations themselves for two reasons: 1) the data being discussed is unpublished and, therefore, confidential; and, 2) for the most part, the scientists sound as if they are speaking in tongues when they discuss their research. The important work that is being done to find better treatments for cavernous angiomas is extremely technical, filled with acronyms and indecipherable diagrams of complex matrices. I have been attending this workshop since the beginning and, without having earned a degree in molecular biology, I am clueless much of the time. However, I can try to give you the flavor, the agenda, and some amateur photos. I’m hoping this will help you to feel connected to the event.

This is the first time the workshop is being held in Europe; we made this choice because we have so many laboratories in Europe that are working on finding treatments and we would like them all to participate. As you can imagine, the American scientists were also excited to have the opportunity to change the venue from Washington, DC for one year.

I arrived at the Dolce hotel here in Chantilly, France very early on this foggy morning. It is quite beautiful:

The view from my room is lovely!

A horse statue greets guests as they enter the grounds. Chantilly is known for its horses:

But, apparently, it’s best not to fence with the statue – touche!

This room will soon be filling with scientists eager to learn from each other, build collaborations, and find a cure for cavernous angiomas:

Angioma Alliance will be represented by Dr. Amy Akers, our Chief Scientific Officer, Dr. Sara Sukalich, the Chair of our Board, and yours truly. Later today, we expect Dr. Ian Stuart, the coordinator of Cavernoma Alliance UK and Krystle Kontoh of Genetic Alliance UK.  These organizations have partnered with us to sponsor this event, and we’re very grateful for their generosity and support.

More later as the events get underway!

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New Study in Mice shows Promise for Treating Cavernous Angioma

In a collaborative effort, researchers at the University of Chicago, University of California San Diego, and Duke University have completed a study that shows a drug, called Fasudil, in the future may be used to treat patients with Cavernous Angioma.

The study was done using a mouse model for Cavernous Angioma.  These mice have been genetically modified so that they develop brain lesions similar to those found in human Cavernous Angioma patients.  Mice were treated with either Fasudil or a placebo for four months.  After the treatment period, the mice were examined for brain lesions.  The researchers found that the treated mice had fewer and smaller-sized lesions than those who had the placebo.

So, what is Fasudil?  Fasudil is a drug that is used in Japan to treat patients who have suffered a brain aneurysm.  Fasudil is not currently approved for use in the United States.  However, the researchers involved in this study plan to continue investigating this line of research and if more promising results are found, they will work with the drug manufacturer and the FDA to develop human clinical trials for Fasudil in the US.

In summary, senior author, Dr. Issam Awad explains, “this treatment does not cure the disease. But if it is successfully translated to human therapy, it would be a bit like treating multiple sclerosis, where many treatments do not eliminate the primary disease trigger, but can muffle it, slow it down and make it not as serious, and therefore allow a patient to effectively live with the disease, as opposed to having the disease dictate their health.”

The paper called, “Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease,” was published online Oct. 27, 2011, by Stroke, and in the January 2012 print issue of the journal.  You may access the full press release for this paper by clicking HERE.

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Get Involved: Start an Action Group!

One of the strengths of the Angioma Alliance is that it brings together a really diverse group of people. Our lives are affected by angiomas in one way or another but we aren’t all the same. We live all over the country and world. We are men, women, and children of all different ages and backgrounds. Some of us struggle with headaches, others have had strokes.  Some of us have one angioma, others many. Some of us have had surgery, others have decided not to, and others are still thinking about options.

Angioma Alliance helps us to set aside our differences to work together toward common goals: seeking a cure, finding peer support, answering research questions and helping each other to live full lives. The Board of Directors fully supports this solidarity and believes that we are stronger when we are together with our shared diagnosis of cavernous angiomas. However, we also think that there is a place for creating more specific groups, within the greater Angioma Alliance, for those who have particular concerns and interests. In this way, the organization can meet the needs of all our members in ways that serve each person best.

At this time, we are excited to see what groups may want to form and become what we are calling Action Group. As examples, the groups could focus on a particular problem, such as brainstem lesions, or a location, such as New Mexico.

Our first group will be the CCM3 Action Group. Individuals with the CCM3 mutation (which can run in families) tend to have an aggressive form of the disease and may have other associated medical problems. Connie Lee, Angioma Alliance President, will be working within this group to start initiatives that are specific to those with the CCM3 mutation, including development of a CCM3 clinic.

The Board is interested in hearing your suggestions and needs. Please send me your ideas for other Action Groups. Angioma Alliance, the larger group, is here to support all of our members’ needs; from a single person, to an action group, to the majority. I look forward to hearing from you.

ssukalich@angioma.org

Sara Sukalich

Chair, Angioma Alliance Board of Directors

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Cavernous Angioma Conference in Santa Fe

Please join us on Saturday, August 27th, 2011 to hear presentations by neurologist, radiologists, neurosurgeons, and affected individuals. The conference will be held from 10:00 AM to 2:00 PM at the Courtyard by Marriott Santa Fe, 3347 Cerrillos Road, Santa Fe, New Mexico. Call Beth with questions at 505-272-3194 or email babaca@salud.unm.edu.

Posted on by Connie Lee in For Patients, News | Comments Off

Announcement: Poker Tournament to Benefit Angioma Alliance

 

 

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