Researching The Rare: National Institute of Health's Undiagnosed Disease Program скачать в хорошем качестве

Researching The Rare: National Institute of Health's Undiagnosed Disease Program

It is no secret that the NIH is where medical research and patient hope collide. The HPS Network has fostered a relationship with the NIH for over 30 years and hopes to continue our relationship for years to come, but we can only do that through your support. What is HPS? Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, characterized by albinism, visual impairment, and a platelet dysfunction that results in prolonged bleeding. Some people with HPS may develop other complications depending on the HPS gene involved; these include, inflammatory bowel disease, pulmonary fibrosis, and kidney disease. Hermansky-Pudlak Syndrome (HPS) is a rare genetic condition that impacts 1 in 1,000,000 people worldwide. Currently, there are 11 known types of HPS. The future might also reveal other unidentified HPS gene types. HPS can range from mild with few symptoms to very severe and disabling. In HPS types 1, 2, and 4 pulmonary fibrosis is a common problem. Pulmonary fibrosis is a scarring of the lungs that prevents them from being able to expand and contract during inhalation and exhalation. It is a restrictive lung disease. In HPS, the typical age of onset of symptoms occurs in a person’s mid-30s (although some cases occur in individuals in their early 20s). Without treatment death typically occurs between age 45 and 55. Treatments are being investigated at the National Institutes of Health. Lung transplantation is an option for some. Want to donate? Visit us at https://www.hpsnetwork.org/ Check out our social media on Facebook, Instagram, and TikTok #hermanskypudlaksyndrome #raredisease #curehps #hpsnetwork #nationalinstituteofhealth #rarediseaseresearch #NIHandHPS