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The Genetics Program specializes in the evaluation and care of patients who may have health problems with a genetic or metabolic basis. These conditions can include the care of a newborn baby with a birth defect, a newborn with a metabolic condition detected by newborn screening, an older child with a developmental problem, a pregnant woman carrying a baby with a birth defect and suspected genetic condition, and an adult with a family history of an adult-onset genetic condition.
Our staff includes physicians board-certified in clinical genetics and trained in metabolism with extensive experience treating the comprehensive range of genetic conditions, including:
Our clinical team of physicians, genetic counselors, postgraduate physicians in training, social workers and a dietician provides families with diagnosis, treatment, genetic counseling and follow-up care in a supportive environment. Our state-of-the-art genetics laboratories and participation in current research ensures our patients the latest testing and treatment options.
Genetic disorders are chronic and in some cases life-threatening. In addition to the diagnosed child, family members may be affected and diagnosis may influence parents’ decisions regarding subsequent pregnancies. We are equipped to treat the whole family, from diagnosis to counseling and follow-up care. We have specialists who are trained in the diagnosis, genetic counseling and care of the genetic conditions specific to each stage of life. As part of Massachusetts General Hospital, we are an integral part of a world-renowned academic medical center and we collaborate with specialty units throughout the hospital to ensure the best care for our patients.
We know that the time of your child’s diagnosis and illness is a very stressful one and we strive to provide an open, welcoming environment. We have a friendly, welcoming environment and staff dedicated to making children and their families feel at ease. We believe that no one knows a child as well as the parent does: parents, along with primary care providers, become our partners in a child's care and have an active voice in all treatment plans.
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Matthew McGuinness joined the Family Advisory Council (FAC) at MGHfC after his daughter, Sophie, 12, received exceptional care for Alagille syndrome, a rare genetic condition that affects the liver, and a liver transplant. His input on the FAC helps other parents whose children receive care here.
Ether Day, a tradition started in 1945, is a day to recognize MGHfC and Mass General staff for their years of service to patients and the hospital's overall mission. Below, staff and faculty share what their years at MGHfC mean to them.
Sofia is one of an estimated 500 children in the world diagnosed with Pitt Hopkins syndrome, a genetic disorder that affects development, speech and intellect. This little girl, although tiny in size, is proving she is capable of big things despite her rare diagnosis.
At 5 weeks old, Natalia Boidi was rushed to the emergency room where doctors diagnosed her with SMA, a rare genetic disorder in which the nerves in the spinal cord slowly die off. After months in the PICU and a novel treatment called Spinraza, Natalia can breathe on her own and is learning to stand - things that were once almost impossible with her disease.
Ether Day, a tradition started in 1945, is a day to recognize MGHfC and Mass General staff for their years of service to patients and the hospital's overall mission. Learn more about what MGHfC means to some of those providers and staff.
At 16, Anna Young was diagnosed with Myhre Syndrome, a very rare genetic condition. Since coming to the Myhre Syndrome Clinic at MGHfC, she has found her place in the world and learned the skills to thrive as a young adult.
April Lanord's son, Alec Bruneau, was considered a medical mystery until he received a diagnosis of Myhre Syndrome, a very rare genetic condition, during childhood. Since coming to the Myhre Syndrome Clinic, Alec has found a new sense of confidence and comfort in who he is. April was also inspired to become an ambassador for the clinic, helping other families get oriented to Boston and MGHfC.
MGHfC Genetics Program
Yawkey Center for Outpatient Care
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