“From Bench to Bedside in a Decade” 2010
May 5, 2010

            The Progeria Research Foundation hosted their tenth international scientific workshop on Progeria, titled “From Bench to Bedside in a Decade” at the Seaport Hotel and World Trade Center in Boston, Mass.  The three-day event was held April 11-12, 2010.  Since PRF was founded in 1999, they have held five similar events.  In these ten years, definitive tests to diagnose  Progeria and possible treatments have been discovered.  The workshops are especially significant to everyone working towards Progeria research, as this is the culmination of everything they work for.  The workshop hosted 130 scientists from ten different countries, which demonstrates how research has become an international effort.

            The very first workshop in 2001 was a joint effort from the National Institute of Health and PRF.  It was here that Dr. Leslie Gordon announced PRF would create a cell and tissue bank and database to keep detailed information about children with Progeria.  

            The itinerary for PRF’s tenth anniversary workshop: “From Bench to Bedside in a Decade”  The idea behind the workshops, which are held every two years, is to facilitate discussion and promote progress about Progeria among a growing number of researchers.

            The topics included a discussion on living with Progeria, including a round table question and answer session from the patients’ perspective.  Audrey Gordon is the President and Executive Director for PRF.  She said this part of the workshop was exceptionally touching. 

Once you meet them it’s amazing, I mean they’re such great kids and they’re really very dynamic and fun and truthful about everything, about all the questions that were asked and answered, said Gordon. 

     Three families attended the workshop; one from England, one from Canada and one from the United States. Tina Pickard’s son, Zach, is three years old and has Progeria.  She said the opportunity to meet the researchers working for a cure for her son was beneficial to her family and the researchers alike.

Just to finally be able to say, oh, that is a child with Progeria. And you know, the same for us, when we walk in and you’re looking at these doctors and you’re like wow, they do this for a living, this is their job and they’re trying to find a cure for my son. It’s an overwhelming feeling, it’s really sweet, said Pickard.

            Doctors from the Dana Farber Cancer Institute, Children’s Hospital Boston, and Brigham & Women’s Hospital talked about new findings as well as treatment with the FTI drugs in children with Progeria.   Other experts discussed the relation of cardiovascular disease in mouse models to humans. 

            The workshop was named “From Bench to Bedside in a Decade” because the Progeria Research Foundation has come a great way in ten years.  PRF is used as a model for other foundations and organizations looking to start up.  Audrey Gordon says this all happens with a lot of support.

Ten years is an unheard of amount of time to go from start to drug trial – other organizations use us as a model. We started off with a vision and it really all comes together – from our cell bank for researching to doing the research.  It all is a huge building block in just ten years.  [There’s] never a dull moment, said Gordon.

            The National Institute of Health issued a fact sheet on Progeria in 2007 detailing the scarcities of research over the past thirty years, what was known in 2007, and what the outlook was for ‘tomorrow.’  Since 2007, much can be added to this fact sheet.  This is a testament to the work and research that has been devoted to Progeria.

View this document on Scribd

            The article questions the role of the LMNA gene in Progeria and its relation.  It is now known that a mutation in this gene leads to Progeria.   The article says future research may provide insight into heart disease, an affliction that a wide population experiences aside from patients with Progeria.  Now, “there is a biological link between the Progeria disease process and aging and heart disease,” said Audrey Gordon, President and Executive Director of PRF.  The article notes future lab research is preparing for the first clinical trial using Farnesyltransferase inhibitors to treat Progeria.  Now, PRF is conducting its second clinical triple-drug trial which adds two other drugs in addition to the FTI treatment.

            While a lot has happened in a short time, there are still a lot of questions.  George Martin from the University of Washington spoke at the workshop about the unanswered questions regarding normal aging and aging in Progeria patients.  Susan Rosenblatt is the executive assistant and volunteer coordinator for PRF. She says being able to see everyone come together every two years for these workshops is an amazing experience, even if you don’t under the science aspect.

I’m always amazed at the way, from a layperson’s point of view, I don’t understand a lot of the science but I’m really, what I find remarkable is how people work together to study Progeria and to move on from the workshop and form new partnerships for the future to study. It gives me a window into that whole piece of research that I can’t participate in but I constantly marvel at, said Rosenblatt.

            There is much hope for the future.  New insights and targets were considered among the experts at the workshop.  “So, while at one point people are very excited about all that’s happened and all the knowledge we now have,” said Gordon, “there’s also the flip side that says okay, now there’s a lot more work to do.”

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Rare Disease Poll
April 12, 2010

            Imagine finding out you or a loved one has a life-threatening disease or condition.  Then, finding out that the disease is so rare, there is little to no information, research, studies, or treatment.  That is, of course, assuming the disease was even common enough to be diagnosed.  This is a reality for one in ten Americans.  And while apart, these rare diseases may affect smaller groups of people, together there are 30 million people affected by rare diseases. 

            In a survey asking how important people thought it is to research rare diseases in comparison to more widespread diseases, the results were:

            Less important 16%

            Equally as important 70%

            More important 12%

            Not sure 2%

           

     75% of respondents were women, and 25% were male.

            Jim Gibbons, the governor of Nevada issued an executive proclamation on February 8, 2010 declaring February 28, 2010 as Rare Disease Awareness Day.  By receiving attention at all levels, rare diseases are coming to the forefront of the minds of Americans.  In his proclamation, the Governor wrote:

“Whereas  diseases such as ‘Lou Gehrig’s disease’ are well known, while others, such as ‘Erdherim-Chester Disease’ remain unfamiliar to the public, so that, affected citizens have a large burden while raising research funds; and whereas nearly one in ten Americans have rare diseases, therefore, thousands of Nevada residents are affected; and  whereas the National Organization for Rare Disorders, patients, medical professionals, researchers, government officials, companies in support of treatment development and citizens are bringing such rare diseases into focus for the public in order to bring awareness to the State of Nevada concerning this public health issue.” 

            The National Institute of Health estimates there are approximately 6,800 rare diseases.  Of those, 75% affect children.  Since so many rare diseases have ties to more common diseases and conditions, research for even those that are the most rare of these diseases is crucial, and can be the key to ensuring fulfilling lives for millions from the discovery of treatment or a cure for one rare disease.  That over 80% of people surveyed believe that rare disease research deserves equal or more importance proves that awareness for rare diseases is prevalent and affects many people in some way.

More on awareness:

            The movie, Extraordinary Measures, focuses on a family whose two children have life-threatening diseases.  The movie was released in January, 2010 and was based on the true story of Aileen and John Crowley whose children had Pompe’s disease.  The film shows the parents’ willingness to do anything to save their children, including financing and ensuring research for treatments.  The trailer for the movie is below:

Rare Disease Day 2010
March 3, 2010

Sunday February 28, 2010 was World Rare Disease Day.  The purpose of the day was to spread the word about the need to research rare diseases.  The National Organization for Rare Disorders headed the third annual event.  NORD’s mission is to identify, treat and cure rare diseases through various programs.

Information about rare diseases is limited; making diagnoses difficult and families often face a lack of research or resources.   Rare diseases often have no cures.  However, there are between 6 and 8 thousand known rare diseases with 75% of these affecting children (rarediseaseday.org).

Congress passed the Orphan Drug Act of 1983 to encourage the development of drugs for rare diseases.  A rare disease is one that affects fewer than 200,000 people in the United States.  Prior to the passage of this Act, private industries were hesitant to invest in treatments because the drugs were expected to be unprofitable.  To find out more about the benefits of this Act you can visit the review by the Department of Health and Human Services.

Finding a treatment or cure for rare diseases often leads to advances in more common diseases and disorders.  Dr. Leslie Gordon, Medical Director for the Progeria Research Foundation said, “Helping children with Progeria, with this rare and fatal disease, also helps us understand the biology of aging in all of us” (Findtheother150.org).

On Rare Disease Day 2010, Boston Children’s Hospital hung a sixty foot chain with the names of 350 rare diseases. Audrey Gordon, President and Executive Director of the Progeria Research Foundation explains why rare disease studies are so important:

Triple Drug Trial
February 26, 2010

The Progeria Research Foundation launched their triple drug trial in August, 2009. The goal is for three drugs to complement one another in stopping the production of the abnormal protein progerin which causes Progeria. The three drugs are Pravastatin, Zoledronic acid, and Lonafarnib. The trial will last two and a half years. In the clip below, Audrey Gordon, President and Executive Director of PRF, discusses how this second trial is different from the first:

Find the Other 150
February 1, 2010

            The Progeria Research Foundation began the ‘Find the Other 150’ Campaign three months ago.  The idea of the campaign is that there are statistically one hundred and fifty other children in the world with Progeria who are either undiagnosed or unknown by the organization.  In just these three months there have been three children identified; two are from Brazil and one is from Turkey.  PRF has set up a separate website to get the word out about this campaign.  Press releases about Progeria are being released in six languages across the world. 

          Once families are in contact with PRF, they can more fully understand Progeria and have access to the medical facilities they need as well as a network of families who know what one another is going through.  A clinical drug trial began in May, 2007 at Boston Children’s Hospital.  In just ten years, the Progeria Research Foundation has discovered the cause of Progeria and is working on treatment. This video introduces you to the children involved in the trial:

Dr. Leslie Gordon is the Medical Director of the Progeria Research Foundation.  She says the campaign is necessary to find children with Progeria:

As a parent of a child with Progeria, I don’t want other parents to feel helpless in diagnosing and treating their child. The “Find the Other 150” Campaign will allow PRF to provide these children with life-changing treatments and connect them with local medical professionals and other families of children with Progeria.

            The symptoms of Progeria include osteoporosis, growth failure, loss of body fat and hair, joint stiffness, cardiovascular disease and stroke (ProgeriaResearch.Org).  If you know a child with symptoms of Progeria, you can contact Audrey Gordon, President of the Progeria Research Foundation, at agordon@progeriaresearch.org.

Image from FindtheOther150.org