Zafgen Joins NORD to Support Rare Disease Day(R)
The theme for this year's Rare Disease Day, "Living with a Rare Disease", speaks to the ongoing challenges that individuals and families face including delay in diagnosis, difficulty finding a medical expert, lack of access to treatment and inability to take advantage of ancillary services.
A rare disease is defined as a condition that affects less than 200,000 patients. According to the latest figures from the
"We are honored to show our support of NORD, its members and affiliates as we continue to raise awareness of rare diseases, and the importance of seeking better care and treatment options for people living with them every day," said
For more information about the Rare Disease Day activities in the U.S., go to www.rarediseaseday.us. For more information about global activities, go to www.rarediseaseday.org. For additional information about rare diseases, visit NORD's website, www.rarediseases.org.
About Prader-Willi Syndrome
Prader-Willi Syndrome (PWS), the most common known genetic cause of life-threatening obesity, causes constant hunger that drives PWS patients to gain more weight on fewer calories than the average person. As a result, many of those affected become morbidly obese before the age of five. There is currently no cure for this disease. Although the cause is complex, it results from a deletion or loss of function of a cluster of genes on the 15th chromosome. PWS typically causes low muscle mass and function, short stature, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. PWS occurs in males and females equally and in all races, with the same incidence around the world. Prevalence estimates have ranged from 1:8,000 to 1:50,000 with the
most likely figure being approximately 1:40,000. To the best of our knowledge, prevalence is about 5,000-7,000 people in
About Hypothalamic Injury-Associated Obesity (HIAO)
HIAO is most commonly caused by damage incurred during removal of a central nervous system tumor called craniopharyngioma but it can also result from less common types of hypothalamic injury such as strokes, brain trauma, or radiation therapy to the brain. Craniopharyngioma is a rare form of benign brain tumor that occurs most commonly during childhood and infiltrates near the optic nerve, pituitary gland and the hypothalamus. Treatment of these tumors commonly involves surgical removal of the tumor mass, followed by radiation treatment, which results in disruption or removal of neighboring structures including the hypothalamus. Post-treatment hypothalamic dysfunction results in hyperphagia and significant obesity in up to 50% of these patients, resulting in a variety of co-morbid conditions and a deteriorated quality of life. Craniopharyngioma-associated obesity occurs in males and
females equally and in all races, with the same incidence around the world. The incidence estimates have ranged from 0.13 to 0.17 per 100,000 per year, or approximately 400 to 500 new cases per year in
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Shauna Elkin
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Shauna.Elkin@fticonsulting.com
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