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• 
  luismiaras | published 14 days ago | Originally written in Spanish Molecular Biology Project Center for Molecular Biology Severo Ochoa

  When reading the following article on cystic fibrosis, we can have an idea of the reasons why the Dravet Syndrome Foundation is going to develop the CBMSO Molecular Biology Project.

  We understand that the genetic therapy approach is today probably the most solving strategy, but we do not discard other ways. And the same as in the case of cystic fibrosis, we want to explore the role of proteins in all this process, as just in their case we might find that the solution is there.

  Cystic fibrosis and its treatment: an example of an innovating and integrating strategy

  Emilio Muñoz, President of ASEBIO Scientific Committee

  Cystic fibrosis is a serious hereditary disease which affects children of European descent. it was considered as a model to apply genetic therapy when its monogenic character was discovered with the identification of the defective responsible gene in 1989.
  The idea, in line with the expectations of that therapy, was to introduce normal copies of the implied gene in patients, which would synthesize the correct protein encoded by the gene.

  However, those expectations were not fulfilled. Viral vectors which, by means of genetic engineering, were able to introduce copies of the gene, did not operate in the adequate way, they even generated undesired collateral effects. Notwithstanding that, as a clear example that during research there are convergent evolutions, cell and molecular biologists dedicated themselves to analysing structurally and functionally the protein responsible for the problems that exist in cystic fibrosis. The knowledge of the tridimensional structure of the protein, as well as that of the circumstances in which the anomalous protein altered
  the cell functions, processes that take to the accumulation of thick mucus in certain organs, has given way to a different strategy: to look for medicine that made the defective protein work better.
  
  This new orientation is described very clearly in an article which was published in last October 2011 issue of Investigación y Desarrollo (pages 73-77), with the suggestive tittle "Una bocanada de aire fresco" in the Spanish version, (A breath of fresh air, English translation), and written by S.M. Rowe, J.P. Clancy and E.J. Sorsher. A first interesting information comes from the memberships of these authors, because they prove, in my opinion, how, from the university organization, the goal of transnational medicine can be facilitated. Rowe is a medicine Professor, in pediatric pulmonology, physiology and biophysics from Universidad de Alabama in Birmingham; Sorscher is a Professor of medicine and physiology and biophysics at the same university, whereas Clancy is a professor of medicine and pediatric pulmonology at the Hospital Infantil de Cincinnati, and a Universidad de Cincinatti. Two key concepts come up from these institutional guidelines: interdisciplinarity and cooperation.
  
  The problem of cystic fibrosis is focused on the defects of transport of sodium chloride (salt) through the membranes that surround the cells. The responsible gene encodes one of the proteins implied in the transport of the chloride ions, which are known as " transmembrane conductance regulators of the cystic fibrosis" (CTFR according to the name in English)

  It is a complex protein, composed of 1500 aminoacids that fold in a complicated and elegant way, giving place to a series of loops and blades that roll and insert on the membrane; it is a protein that reveals subsections in its structure.

  Mutation of a gene implies that the organism does not have an operative CFTR canal, so that people affected produce a sticky and thick mucus that makes physiology difficult and facilitates infections by opportunistic bacteria: vital prognosis, before the arrival of antibiotics and the discovery of nutritional therapy, was hardly a year.

  The effects of CFTR on mutations, about 1600, are multiple. Three are the best studied effects: The canal is not adequately placed; the synthesised canal is truncated and goes together with the rapid degradation of the instruction for synthesizing it correctly; the synthesized canal is of normal length, but it is inefficient for the transport of chloride ions and other types of ions. It is possible to think that the ideal medicine would be that that might correct several defects, but logic points out, at the same time, that in order to help all the patients suffering from cyst fibrosis, several medicines should be developed, looking for specificities, according to mutation.

  Most frequest genetic mutation is that which takes to absence of canals on the cell surface due to the intervention of the control system of molecular quality, system that degrades aberrant proteins. Bearing this prevalence in mind, it might appear to be plausible to attack this problem in a preferential way, but it is not known exactly yet, how the anomalous folding of the CFTR protein is produced as a result of this mutation nor how the cell machinery detects this defect, which makes this approach difficult.
  
  Meanwhile, several biotechnology companies, Vertex Pharmaceutics, PTC Therapeutics, which are making clinical research in order to counteract the two other effects: truncated canals or non-operative canals. The best results they are obtaining have to do with therapeutic strategies oriented to counteracting mutation which affects canals operation. After clinical trials with 230,000 compounds, Vertex has discovered a drug that activates selectively the CFTR canal till reaching 50% of its function. An important lesson, in times of crisis and a debate between what is basic and applied, is that the treatment for cystic fibrosis lies on the knowledge of its biology.

  Notice: This text content has been translated automatically by a third-party service.
• 
  luismiaras | published 18 days ago | Originally written in Spanish Melatonin

  Answer to a parent requesting information about whether Melatonin had been studied at the Dravet (29/05/2012)

  What is been referred to in the Dravet articles was the usage of melatonin in children with sleep destructuring or bad sleep. The lowest dose was 3 mg. Some authors also recommended it for sleep disorders due to antepileptics. In that sense, many Dravet children (tb in our Spanish group) have taken it or have had it recommended.

  If melatonin was referred as a tool to decrease night strokes in other types of epilepsy, I don't recall anything of the sort being published about Dravet.

  But in the last few months, as shown in the English forum, some neuros have been recommending melatonin to patients with no apparent sleep destructuring, but with a very active EEG at night.
  I see that in that study they are using larger doses.

  In that respect, Franck Kalume, a researcher from the University of Washington, Seattle, told us in Baltimore about a study of Dravet mice where they correlated micro-awakements with epileptic activity in the EEG.

  May I remind you that Kalume is a researcher and co-author in all of "Father of Physiopathology" Dr Caterall's papers.

  We'll bring Caterall to the September 14 ionic channels workshop in Barcelona

  And I can tell you that I've just confirmed Franc Kalume's attendance to a summer course about Dravet that we're organizing on September 3 and 4 in the Menendez Pelayo Santander University, and one of his talks will be about sleep disturbance in Dravet mice, and also about a study he's currently running about Dravet sudden death.

  Which means, Diego, that you might as well save the question for Sandander and ask Kalume directly.

  I'll give you more information about Barcelona (better for researchers) and Santander (better for doctors) when all speakers have confirmed and it's official.

  But we can expect a September filled with important Dravet researchers and doctors around here. It's not all projects!

  Notice: This text content has been translated automatically by a third-party service.
• 
  robpleticha | Member presentation | published 2 months ago | Originally written in English Call for stories

  There are still many people living in all regions of the world that have yet to be properly diagnosed with Dravet syndrome. We are reaching out to people who wish to share their stories of diagnosis and life experience. Stories can be submitted anonymously. Story submissions will assist others in their journeys. Awareness and educational resources for rare diseases such as Dravet syndrome will assist in early detection and diagnosis.

  You can email me stories at robert.pleticha@eurordis.org or add them through the link in your profile "Tell my Story." We will translate stories across the site's 5 languages.
• 
  JenniferMcM | Member presentation | published 4 months ago | Originally written in English Hi!

  I am mom to Melorah Grace (age 11). My husband and I are founding members (john is a founding board member) of dravet.org, formally the IDEA League. It was the first non-profit Dravet group. Melorah wasn't diagnosed until Dr. Dravet saw her at the first Dravet conference in August of 2006. Due to the connection of the original group (the yahoo group that Kate Watts, a wonderful mom in the UK started), we were able to pretty much figure out that Melorah had Dravet syndrome before the conference. It is amazing how much these kids look alike, act alike and seize alike! It can be so frustrating to get a diagnosis.... at least it was several years ago. :)

  Right now we are in a good spot for seizures however we still deal with autonomic issues. It is not uncommon for her to stop breathing or have irregular heart rates while sleeping. .

  Among the many things dravet.org does (research, family support, advocacy, etc), they host the Dravet conference. Hopefully we will get to see many of you there! It is a great place to connect with our extended "family."
• 
  mameskis | Member presentation | published 4 months ago | Originally written in English Hello,

  My name is Mary Anne Meskis. I am the Vice-President of the Dravet Syndrome Foundation based in the US, www.dravetfoundation.org. My youngest son, Elliot has Dravet syndrome.

  I am happy to share our experience in living with Dravet syndrome and look forward to speaking with other families. The Dravet Syndrome Foundation also has an active support group on FaceBook with almost 600 members worldwide. (www.facebook.com/#!/groups/117762871617179/)

  -Mary Anne
  maryanne.m@dravetfoundation.org
  One reply to the topic — see all replies

  • 
    lynne published 4 months ago | Originally written in English

    My son Harrys also got Dravet Syndrome. Was diagnosed at 8 months old!
• 
  julianig | Member presentation | published 4 months ago | Originally written in English Greetings from Spain

  Hi there,

  My name is Julian Isla. I'm President for Dravet Syndrome Foundation in Europe.
  www.dravetfoundation.eu

  I'm parent of a child affected with this disease as well. His name is Sergio and you can learn more about his condition over www.xergio.org

  Regards,

  julian.isla@dravetfoundation.eu
• 
  robpleticha | Member presentation | published 4 months ago | Originally written in English Welcome

  Hi, and thanks for registering on the Dravet syndrome Community. My name is Rob and I am one of the community managers at EURORDIS. We are here to support you and answer any questions you may have.

  This forum section can be translated on demand across all of the community's 5 languages. If you see a post in a language you do not understand, please go to the end of the post and click ASK FOR IT.

  Best,
  Rob
  robert.pleticha@eurordis.org