Will Ward at the NSTAR Walk for Boston Children’s Hospital in 2012—his family’s fifth year leading a team to raise funds for the Beggs Laboratory.
This two-part series examines two potential treatment approaches for myotubular myopathy, a genetic disorder that causes muscle weakness from birth.
Sixth-grader William Ward cruises the hallways at school with a thumb-driven power chair and participates in class with the help of a DynaVox speech device. Although born with a rare, muscle-weakening disease called X-linked myotubular myopathy, or MTM, leaving him virtually immobile, he hasn’t given up.
“From the very beginning, Alan connected with our family in a very human way,” says Will’s mother, Erin Ward. “In the scientific community, he’s been the bridge and the connector of researchers around the world. That makes him unique.”
Since the 1990s, Beggs has enrolled more than 500 patients with congenital myopathies from all over the world in genetic studies, seeking causes and potential treatments for congenital myopathies—rare, often fatal diseases that weaken children’s skeletal muscles from birth, often requiring them to breathe on a ventilator and to receive food through a gastrostomy tube. Full story »
Leonard Zon (top) and Massachusetts Lt. Governor Timothy Murray in the Stem Cell Program's zebrafish facility. (Courtesy MLSC)
Ed. Note: Leonard Zon, MD, is founder and director of the Boston Children’s Hospital Stem Cell Program, which yesterday was awarded $4 million by the Massachusetts Life Sciences Center to build the Children’s Center for Cell Therapy.
As a hematologist, I see all too many children battling blood disorders that are essentially untreatable. Babies with immune deficiencies living life in a virtual bubble, hospitalized again and again for infections their bodies can’t fight. Children disabled by strokes caused by sickle cell disease, or suffering through sickle cell crises that drug treatments can’t completely prevent. Children whose only recourse is to risk a bone marrow transplant—if a suitably matched donor can even be found.
Over the past 20 years, my lab and that of George Daley, MD, PhD, at Boston Children’s Hospital have worked hard to give these children a one-time, potentially curative option—a treatment that begins with patients’ own cells and doesn’t require finding a match. Full story »
Mary Elizabeth Stone and her son John, with genetic counselor Meghan Connolly and Pankaj Agrawal, principal investigator of the Gene Discovery Core. (Courtesy ME Stone)
Sequencing a patient’s genome to figure out the exact source of his or her disease isn’t standard operating procedure — yet. But falling sequencing costs and a growing number of successes are starting to bring this approach into the mainstream, helping patients and families while advancing a broader understanding of their diseases.
The Stone family is a case in point. When John and Warren Stone were born, their parents were envisioning life raising identical twins, when suddenly everything changed. On their second day of life, the twins started to have seizures with stiffening of their arms and legs; more alarmingly, they would stop breathing from time to time, requiring a ventilator to help them breathe. Further work-up revealed that both John and Warren were having persistent seizures consistent with Ohtahara syndrome, a rare, debilitating seizure disorder.
Warren died a few weeks later, and the family transferred John’s care to Boston Children’s Hospital. An extensive clinical and genetic work-up here and at several other hospitals involved in his care — including sequencing all the genes known to cause Ohtahara syndrome – identified no cause for John’s unique seizures. Full story »
Finding the genetic cause of a non-inherited disorder is a challenge--especially when the gene is abnormal in only some of a person's cells.
How do you find the genetic cause of a disease that doesn’t appear to be inherited, presents with a variety of symptoms—and has been diagnosed in just a few hundred people worldwide? Add to that the fact that the genetic defect occurs in only a portion of a patient’s cells, and a formidable challenge emerges.
As a team of researchers from Boston Children’s Hospital has discovered, and as is true in many rare diseases, depth and breadth of clinical experience can prove pivotal.
It all started in 2006. That’s when, after poring over years’ worth of patient records and photos, Ahmad Alomari, MD, an interventional radiologist at Boston Children’s and co-director of its Vascular Anomalies Center, defined a condition he called CLOVES syndrome. CLOVES is complex and looks somewhat different in every patient, causing a combination of vascular, skin, spinal and bone or joint abnormalities. It’s a rare and progressive disease for which no known cure or “one-size-fits-all” treatment exists. Full story »
On the Berlin Heart, Alina Siman, 4, has regained her energy which will make her a better transplant candidate when a new organ becomes available
Four-year-old Alina Siman is being kept alive on a device that gained approval in the U.S. just two weeks ago. The Berlin Heart Group’s EXCOR, a ventricular assist device manufactured in Berlin, Germany, takes over the normal function of a heart by pumping blood directly to the pulmonary artery and into the lungs.
With FDA approval granted on December 16, the U.S. joins Europe and Canada in offering the device for children of all ages with end stage heart failure. Full story »
As Children’s Hospital Boston holds its 2nd Annual Rare Disease Symposium today, here’s a reminder that drug development is incredibly difficult: many initially promising drugs ultimately prove ineffective or have unacceptible toxicity—typically at a late stage of a clinical trial. But it needn’t be that way. In this 10-minute video, introducing its Initiative in Systems Pharmacology, Harvard Medical School makes the argument that focusing on a drug’s action on a single cellular target is a flawed approach — rather, we need to understand and predict its activity in all body systems.
Today’s symposium, co-sponsored by the Technology and Innovation Development Office and the Manton Center for Orphan Disease Research, will address therapeutic development and for rare, often fatal diseases, focusing on moving discoveries to clinical trial and models for partnerships between academia, industry, the FDA and NIH, foundations and patient advocacy groups. Use this link to watch the proceedings live starting at 9 a.m. You can also follow the symposium on Twitter, using the hashtag #CHBRare. Click here for the full agenda.
