Joshua is among thousands of children who are born with one of many congenital myopathies. Believed to begin before birth, myopathies vary in degree of severity and time of onset. As muscle cells of a baby develop in the womb, a blockage inhibits transmission of vital genetic information needed for proper growth. The improper muscular development of the babies ultimately translates into a quality of life that is greatly impaired. The simple task of crawling for most is impossible. Your support is needed if children like Joshua are to live and thrive.
Dr. Anthony Atala, a key member of the JFF-funded research team, is director of Wake Forest University Baptist Medical Center’s Institute for Regenerative Medicine in Winston-Salem, N.C. Dr. Atala’s work has focused on growing new human tissues and organs to repair those that are defective at birth or destroyed by disease. Dr. Atala has grown bladders in the laboratory that were successfully implanted in patients. In addition, he has discovered a new source of stem cells – in placenta and amniotic fluid. His team has successfully used these new stem cells to create muscle, bone, fat, blood vessel, nerve and liver cells in the laboratory. This groundbreaking research is an important part of efforts to treat, and ultimately cure, congenital myopathies.
Dr. Atala directs a team of more than 150 physicians and researchers who are working to grow more than 22 different tissue and organs, including skeletal muscle. Even with his relocation to North Carolina in 2004, Atala continues to be an active part of the JFF team. The team is working on four treatment approaches – including cell therapy and the injection or implantation of new muscle to treat tissue defects. The group’s continued development would not be possible without the generous and consistent support of the Joshua Frase Foundation. For more information on Dr. Atala’s work: www.wfirm.org
Our team of scientists at Children's Hospital Boston and Harvard Medical School has been making exciting progress on a number of fronts towards understanding and treating congenital myopathies. Led by Drs. Beggs and Kunkel, the team has been conducting studies to understand the genetic causes of myotubular and other congenital myopathies and develop safe and effective treatments for these disorders.
Dr. Alan Beggs and his research group are focusing on understanding the genetics of congenital myopathies and on using this information to improve diagnosis and treatment of these diseases. They have been involved in the discovery of several new genes for nemaline myopathy and are now studying patients with myotubular and centronuclear myopathies. Recent experiments have provided tantalizing evidence that skeletal muscle from boys with myotubular myopathy may have increased numbers of stem cells which are thought to repopulate damaged muscle. Further work is underway to learn why the muscles of patients with myotubular myopathy do not fully mature, with the goal being to identify a treatment to overcome this block. For more information about Dr. Beggs' work: http://www.childrenshospital.org/research/beggs
It has been just a little more than a year since the groundbreaking discovery by Dr. Lou Kunkel and his colleagues that muscle contains stem cells. These may provide a source of normal cells to replace diseased muscle in patients with neuromuscular diseases. Building on this success, the Kunkel group has recently discovered that a muscular dystrophy patient who underwent bone marrow transplant has donor cells in his muscles 13 years later. This observation raises the exciting possibility that bone marrow may provide another potential source of cells for therapeutic transplantation into patients with neuromuscular disease. Myotubular myopathy is exactly the type of disorder that may be treatable by this approach and the Boston team will soon be receiving a unique strain of "myotubular myopathy mice" with which to test this method. For more information about Dr. Kunkel's work: http://www.childrenshospital.org/kunkel
Recently, the Children's Hospital team, under the leadership of Dr. Kunkel, has been awarded a large grant from the National Institute of Neurological Disorders and Stroke to further support the research to understand and treat neuromuscular diseases. This grant, for about $1 million per year for 5 years, would not have been possible without prior support by the Joshua Frase Foundation. The continued hard work, dedication and generosity of all the Joshua Frase Foundation supporters is essential to provide critical ongoing support for these and other groundbreaking studies so we can all claim victory in the battle against neuromuscular disease!
|
