Genetics and Genomics

Manton Center for Orphan Disease Research

Just 400 people worldwide are estimated to have the cancer-causing Li-Fraumeni syndrome. However, within a few of these patients' genes, Stephen Friend, MD, in the Division of Medicine at Children's Hospital Boston discovered the key to much more common forms of cancer. It is such discoveries that the Manton Foundation hopes to continue fostering at the Manton Center for Orphan Disease Research.

Founded in 2008, the Manton Center is the first center in the world solely devoted to the study of rare diseases. Senior scientists in residence specialize in a wide range of areas including metabolic, neuromuscular, neurologic and immune disorders. The Center also awards fellowships and research grants to help launch the careers of rare disease specialists, and to facilitate the discovery and development of more effective therapies for rare diseases.

The Gene Discovery Core, now enrolling patients from all over the world, will further facilitate the study of even the rarest diseases by creating a central disease registry and DNA repository of cases. Both were created in collaboration with the Gene Partnership Project.

"The Manton Center takes advantage of Children's unique qualifications: unmatched clinical expertise in diagnosing and treating some of the most puzzling and heartbreaking childhood diseases, coupled with the resources of a world-class pediatric research facility," says Children's Pediatrician-In-Chief Gary Fleisher, MD.

Muscle weakness sliding into place

Our ability to walk, run or breathe is dependent on the electric slide of actin, myosin and other proteins within our muscles. Much of our understanding of this synchronized dance comes from studying mice and human patients with genetic mutations that cause muscle weakness. Now, Alan Beggs, PhD, director of the Manton Center for Orphan Disease Research, has taken a step in a different direction: zebrafish... [click to continue]

TUBB3: Axons walk this way in neurologic disorders

A gene whose mutation leads to droopy eyelids and restricted eye movement turns out to have a lot to do with how the nervous system as a whole establishes and maintains nerve connections. And it works in an unusual way, essentially washing out a highway that critical proteins in nerve cells, or neurons, need to travel... [click to continue]

A new test promises a brighter future for those with galactosemia

For babies born with galactosemia, the simple act of feeding can be deadly. In this rare inherited disease, infants are deficient in an enzyme known as GALT, leaving them unable to metabolize galactose, a sugary byproduct of lactose found in milk and other dairy foods. Instead, galactose builds up and wreaks havoc... [click to continue]