Rare Disease Report
Patients & Caregivers


The Progeria Research Foundation is currently accepting research proposals specific to Hutchinson-Gilford Progeria Syndrome (HGPS, or Progeria). Awards Range from $50,000 to $300,000.
Pradigastat may offer several benefits to patients with familial chylomicronemia syndrome (FCS).
Patients with lysosomal acid lipase (LAL) deficiency appear to have higher 10-year Framingham cardiovascular risk than the general population. Sebelipase alfa (SA) treatment likely reduces that risk, based on an analysis of patients over 30 years of age in a poster presented at National Lipid Association (NLA) Scientific Sessions held in Chicago, Illinois this weekend.
Sandra Tremulis, president and founder of the Lipoprotein(a) Foundation, talks about the need for lipoprotein(a) to be routinely tested in patients to improve awareness, diagnosis, management, and research for patients with high lipoprotein(a).
In an exclusive interview with Rare Disease Report, Don WIlson, MD, FNLA, of Cook Children's Physician Network in Fort Worth, Texas talks about cholesterol and triglyceride testing in pediatric patients.
Deya Corzo, MD, FAAP, FACMG, vice president of US medical affairs at uniQure talks about the clinical trial the company has planned in North America to study the safety and efficacy of Glybera (alipogene tiparvovec) for the treatment of patients with lipoprotein lipase deficiency (also known as familial chylomicronemia syndrome).
Don WIlson, MD, FNLA, of Cook Children's Physician Network in Fort Worth, Texas describes a case of a young boy diagnosed with primary sclerosing cholangitis, an extremely rare autoimmune hepatobiliary disease.
Later this week, the National Lipids Association (NLA) Scientific Sessions will begin in Chicago, Illinois, and will showcase numerous scientific and clinical data on a number of rare lipid conditions.
James Underberg, MD, of NYU Langone Medical Center describes familial chylomicronemia syndrome (FCS), a very rare hereditary condition in which individuals lack properly functioning lipoprotein lipase (LPL), an enzyme that clears triglycerides from plasma.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders that can vary from loose joints to life-threatening complications, depending on type.
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