The Manton Center for Orphan Diseases
This page is dedicated to the Manton Center for Orphan Diseases research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Manton Center for Orphan Diseases research study, established at Boston Children’s in 2008, is led by Dr. Alan Beggs and has enrolled more than 150 patients and their families.
Disease Information
Rare diseases are disorders that affect fewer than 200,000 people. They include genetic syndromes, immune system problems, errors of metabolism, neuromuscular disorders, and other little-noticed but scientifically important disease processes.
It is estimated that 80% of individuals with rare diseases have an underlying genetic cause. Learn more about rare diseases at Boston Children’s.
Key Outcomes
Key outcomes include clinical diagnoses in 16% of patients, of which 8% led to changes in management. An additional 13% of patients had a candidate finding that is being investigated further.
Participate in Research
Families interested in enrolling can contact: gdc@childrens.harvard.edu. Physicians may also refer their patients with rare syndromic genetic diseases to the Manton Center. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about the Manton Center on The Manton Center for Orphan Disease Research webpage.
Patient Care
Patients and their families with genetic syndromes can be seen by expert multidisciplinary teams in the Division of Genetics and Genomics at Boston Children’s.
Investigator
Divisions
Notable Publications by Investigator
Patient Stories
After starting to trip during athletics and having hand tremors around age 9, the young boy underwent diagnostic workup with specialists at three different hospitals. Symptoms, signs, and electrodiagnostics were consistent with a neuropathy of unclear etiology. At age 12, clinical exome sequencing testing was nondiagnostic, and the symptoms continued to progress. Five years later, he was referred to the Manton Center for Orphan Disease Research for research genome sequencing, which revealed homozygous pathogenic variants in a newly described gene, SORD, consistent with a diagnosis of Sorbitol Dehydrogenase (SORD) Deficiency. SORD deficiency is a progressive hereditary neuropathy that affects peripheral nerves and motor neurons, and can result in significant disability, loss of sensory function, and decreased mobility. With this diagnosis, the patient may be eligible for a new treatment for SORD deficiency which had success in clinical trials and is now awaiting FDA approval.
Patient Support Organizations
Exceptional Lives
Exceptional Lives is a not-for-profit organization that provides information on resources and services for families of children with special needs. This platform is especially useful for residents of Massachusetts and Louisiana, as it helps parents and caregivers find doctors and programs near them. For residents of other states, the site provides a helpful guide on available national programs.
Rare Disease Diversity Coalition
Rare Disease Diversity Coalition (RDCC) was launched by the Black Women’s Health Imperative to address the extraordinary challenges faced by underserved populations with rare diseases. The Coalition brings together rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on historically marginalized populations.
Undiagnosed Disease Network Foundation (UDNF)
UDNF is a nonprofit organization led by and for patients and their families to foster collaboration among patients, clinicians, and scientists to enhance the quality of life of undiagnosed and ultra-rare disease patients.
Beacon
Beacon is a UK-based non-profit organization that is building a united rare disease community with patient groups at its heart.