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Funded Research

Since the Butterfly Guild began its operations in the summer of 2010, we have already reached many significant milestones.  The Butterfly Guild has reached families across the nation who travel to Seattle Children’s to battle their child’s (or children’s) diagnoses with Shwachman Diamond Syndrome.  The Butterfly Guild has even made international connections, helping to ensure children with Shwachman Diamond Syndrome have access to the global knowledge about SDS.  All of these connections have expanded the knowledge about the programs and resources of Seattle Children’s Hospital and the groundbreaking research happening to find better treatments and a cure for children around the globe.

Because of the Butterfly Guild's generous supporters, the Butterfly Guild has already been able to fund two exciting research projects that could have groundbreaking impact on the treatment for children with Shwachman Diamond Syndrome. 

Study #1: Preclinical Models for Shwachman Diamond Syndrome

One of the research projects funded by the Butterfly Guild is focusing on potential therapeutic compounds for the treatment or prevention of bone marrow failure and leukemia in SDS patients. 

Dr. Akiko Shimamura, a world renowned researcher at Fred Hutch and Seattle Children’s has developed a potential mouse model of SDS to study these compounds.  In the study, the hematological characteristics of this mouse model will be characterized to see if the mouse model reacts in similar ways to the human SDS population.  If the study demonstrates that the mouse model does manifest the hematological abnormalities characterizing SDS patients, the researchers will pursue studies testing the therapeutic compounds for their ability to prevent or ameliorate these hematological complications.  Promising compounds identified in these studies will be considered for clinical trials. 

The results from this study could have the impact of ultimately leading to a pharmaceutical treatment for – and possibly an ability to prevent or cure – bone marrow failure and leukemia. 

 

Study #2: Study on Blood Cell Defects in Shwachman Diamond Syndrome

One of the research projects funded by the Butterfly Guild focuses on studying the blood cell defects in Shwachman Diamond Syndrome using an induced pluripotent stem cell disease model.  Over the last few years, a new technology has developed to generate stem cells from patient tissues.  These cells are called induced pluripotent stem cells (iPSCs), and they hold great promise to decipher how genetic diseases like Shwachman Diamond Syndrome develop and how to treat these diseases.  The term “pluripotent” means the cell can become all the cell types in the body.  The term “stem cell” means that the cell is a parental cell that can make both stem cells similar to itself and more mature cells.  iPSCs are cells from a tissue, such as skin, that were induced to become like naturally occurring early pluripotent stem cells.  These iPSCs are not controversial because their formation does not require embryos or cloning.  Using special conditions in a petri dish, it is now possible to grow iPSCs indefinitely and produce from them all types of bona fide patient cells, including blood, pancreas, and bone cells.  This technology is now going to be used by Dr. Yigal Dror in Toronto, Canada, to study SDS thanks to the generous supporters of the Butterfly Guild.

SDS is a genetic disease that impairs function of several organs including the bone marrow, exocrine pancreas, and bones.  Bone marrow failure is a life threatening state where not enough blood cells are made.  Children with SDS can develop two bone marrow problems: bone marrow failure and leukemia.  Despite the increased knowledge about bone marrow defects and functions of the identification of the gene linked to SDS, there are still major challenges with treating patients with severe bone marrow failure or leukemia.  The success with current treatments is limited and the life expectancy and quality of life are markedly reduced. 

The lack of success with current treatments is due in part to the lack of knowledge scientists and doctors have about how bone marrow failure and leukemia develop.  To close this gap in knowledge, scientists need to be able to study bone marrow cells from patients.  However, SDS patients do not make enough bone marrow cells that can be used for extensive research, and obtaining samples for research is difficult.  The goal of this study is to confirm that SDS iPSCs behave like SDS cells donated from live patients and also to determine how well blood stem cells derived from SDS iPSCs are formed and expanded.  If the current study being funded by the Butterfly Guild on iPSCs from SDS patients is successful, scientists could have adequate and ample human material for detailed studies that will benefit patients with SDS.  Successful completion of the study and characterizing the SDS blood stem cells will help to design future studies in which scientists will ask why the blood stem cells are depleted (i.e., causing bone marrow failure) or abnormally expanding (i.e., causing leukemia).  Answers to these questions could lead to novel therapies, reduced number of deaths of SDS patients, and better quality of life for patients living with SDS.

 

More Funds are Needed!

While we are very excited about the research being funded by the Butterfly Guild, there are additional research projects that still require funding.  The more money we raise, the quicker we can find better treatments and a cure for the many SDS patients waiting for help! Donations can be sent to "The Butterfly Guild of Seattle Children's Hospital" at 4046 38th Avenue SW, Seattle, WA 98126.

 

THANK YOU FOR YOUR SUPPORT!

 

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