Children's Hospital Boston Receives $25 Million Gift For World's First And Only Center For Study Of Rare Diseases

Main Category: Pediatrics / Children's Health
Article Date: 19 Nov 2008 - 9:00 PST

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Children's Hospital Boston received a $25 million grant from The Manton Foundation to establish the world's first and only center for research on orphan diseases*. The Manton Center for Orphan Disease Research (The Manton Center) will provide support for eminent Children's Hospital and Harvard Medical School scientists to study and develop new diagnoses of and treatments for rare diseases, including genetic syndromes, immune system problems and metabolic and neuromuscular disorders. The grant is one of the largest gifts ever given to Children's Hospital Boston.

The past two decades have seen an explosion of knowledge about the genetic basis of disease, resulting in new therapies and technological advances that save and improve people's lives worldwide. Yet millions of others-- mostly children--are suffering from diseases so rare that precise diagnoses elude even the best doctors, and treatments are limited or nonexistent. Parents of children with these "orphan" diseases are frequently anxiety-stricken and frustrated by their inability to find answers. These rare illnesses occur too infrequently (fewer than 200,000 cases in the U.S.) to attract the resources and research that support more common diseases, such as cancer.

"The Manton Foundation is delighted to provide significant support for an important area of study that receives limited funding from government and private sources. The opportunity to help advance novel approaches to research is important to the Trustees. They look forward to a long-term partnership with Children's Hospital Boston," says Jacqueline Elias, a spokesperson for The Manton Foundation. "The Foundation is confident that the new Center will increase the understanding of orphan diseases and may lead to critical clues about the basic biological processes that trigger many diseases, from common heart conditions and cancers to more rare birth defects and unusual disorders."

"We are immensely grateful to The Manton Foundation for this generous gift. For years, orphan disease research has been hindered by a lack of resources and attention," said Children's CEO James Mandell, MD. "This new Center will open a superhighway for discovery, which we believe will lead to not only insights into the biological underpinnings of various diseases but also better diagnoses and new treatments for children and adults worldwide."

"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," said Gary Fleisher, MD, Children's Hospital's Pediatrician-in-Chief. "Children's combination of clinical and research expertise attracts thousands of children and families from the U.S, and across the globe, whose genetic and medical information are essential to intensively study these disorders."

Children's Hospital Boston is the largest pediatric research institution in the world. Children's has more National Institutes of Health (NIH) funding than any other pediatric facility and is the 5th largest recipient of all hospitals nationwide.

The Manton Center will be part of Children's Hospital's Division of Genetics, which is overseen by Chief of Genetics Christopher Walsh, M.D., Ph.D. The gift will create a new Harvard chair, The Sir Edwin and Lady Manton Professorship in Pediatrics in the field of Genetics. The chair's first incumbent, Alan H. Beggs, PhD, will also serve as The Manton Center director. The Manton Center will support research by seven senior scientists including Alan Beggs, Ph.D; Gerard T. Berry, MD; David Clapham, MD, PhD; George Q. Daley, MD, PhD; Elizabeth Engle, MD; Luigi Notarangelo, MD; and Christopher Walsh, MD, PhD. The gift will also support: creation of a Gene Discovery Core (see "A Personal Quest for Answers" below); innovation awards for Center's junior faculty; two to three fellowships in orphan disease research; and a visiting scientist program.

A personal quest for answers: For Children's researcher and Manton Center senior scientist David Clapham, MD, PhD, the commitment to studying rare diseases was born out of personal tragedy. His son, Ben, was an inquisitive, intelligent 5-year-old when he first developed signs of a mysterious neurological illness.

Ben began to lose his hearing and vision, his speech deteriorated, and his coordination diminished to the point where he fell frequently and could no longer run.

Dr. Clapham's colleagues made strenuous efforts to diagnose Ben's disease, but could only label it "unique." Though his intellectual capacities remained normal, Ben progressively lost his hearing, vision and mobility.

Despite his limitations, he was an avid reader and movie fan who loved to play pranks on his younger sister. He continued to attend school where his outgoing personality made him popular. One Saturday in October, 1997, Ben complained he felt too weak to breathe. He died within minutes, in the arms of his parents and sister.

More than a decade later, thousands of families continue to experience this frustrating vacuum of information and support when their child has a disease without a diagnosis.

"Ben died before gene sequencing was possible, but today there is real hope that identifying the genetic components of unusual diseases will lead to the development of life-saving treatments and cures," says Clapham. "We couldn't save Ben. I'm grateful that this gift enables us to continue research that will save other kids' lives."

Dr. Clapham hopes that more people share their genetic and medical information for gene sequencing and that the stigma of having a child with a genetic disease disappears. Clapham says that a very important component of the new Center will be the Gene Discovery Core. Researchers begin the discovery process by collecting and analyzing genetic information from patients' tissue samples. They then use the information to plot DNA findings against clinical evidence and family histories. The researchers funnel results of genetic tests to scientists who are studying each respective disease.

"Collecting the DNA and associating genetic information with clinical information enables experts to build a valuable genetic library that Children's scientists and their collaborators worldwide can use to study disease," says Clapham.

* Orphan Disease: Any disease, syndrome or disorder that affects fewer than 200,000 people in the United States. These diseases affect mostly children and often appear before the age of 2. Of the 6,000 known rare diseases, 50 percent cause motor, sensory or intellectual deficiencies and 20 percent cause chronic pain.

Children's Hospital Boston

Children's Hospital Boston, an internationally renowned center for medical research and treatment, is one of the only pediatric hospitals nationwide that focuses on pairing world-class research with clinical resources to develop novel therapies to treat and cure children. Many of the hospital's scientific advancements have far-reaching implications for treating adults, too - they target diseases including prostate and breast cancer, macular degeneration, and Alzheimer's. For more information, visit http://www.childrenshospital.org.

The Manton Foundation

The Manton Foundation was established by Sir Edwin and Lady Manton to support philanthropic efforts of interest to the family. The Foundation has made significant contributions in the fields of art and culture, education, equine care, health care and biomedical research, historic preservation, and land conservation. For more information about the Foundation's current interests please contact Jacqueline Elias at 212-464-2487.

Children's Hospital Boston