Un nuevo fármaco podría tratar enfermedades raras que hacen que la exposición a la luz del sol sea dolorosa
JUEVES, 13 de abril de 2023 (HealthDay News) — Parece sacado de una novela de vampiros, pero en las personas que sufren de un grupo de trastornos genéticos raros, la exposición a la luz del sol puede provocar un dolor agónico. Ahora, un fármaco exper…
Learn MoreDersimelagon Beneficial for Erythropoietic, X-Linked Protoporphyria
THURSDAY, April 13, 2023 (HealthDay News) — For patients with erythropoietic protoporphyria or X-linked protoporphyria, dersimelagon at doses of 100 and 300 mg significantly increases the duration of symptom-free sunlight exposure, according to a stu…
Learn MoreNew Drug May Treat Rare Diseases That Make Exposure to Sunlight Painful
THURSDAY, April 13, 2023 (HealthDay News) — It sounds like the stuff of a vampire novel, but for people with a group of rare genetic disorders, exposure to sunlight can cause excruciating pain. Now, an experimental medication is showing promise for h…
Learn MoreHereditary Angioedema Remains Challenge to Diagnose, Treat
MONDAY, April 10, 2023 (HealthDay News) — Diagnosing and treating patients with hereditary angioedema (HAE) is an ongoing challenge, particularly for rural residents, according to a study published online March 12 in the Annals of Allergy, Asthma & I…
Learn MoreJust 2 Kids Worldwide Are Known to Have This Rare Genetic Disease. Their Parents United for a Cure
THURSDAY, March 16, 2023 (HealthDay News) — When Yoni Silverman, now 13, was a toddler, his parents fretted as he missed milestone after milestone. The New York City couple took their son to a host of specialists, searching for answers about why he w…
Learn MoreFDA Approves First Treatment for Rett Syndrome
TUESDAY, March 14, 2023 (HealthDay News) – The U.S. Food and Drug Administration has approved Daybue (trofinetide) for the treatment of Rett syndrome in adult and pediatric patients aged 2 years and older.Approval was based on results from the phase 3…
Learn MoreMost College Athletes With Genetic Heart Trouble Can Safely Play Sports: Study
TUESDAY, March 7, 2023 (HealthDay News) — New research offers hope to elite athletes who have genetic heart conditions but still want to play sports.In the new study, after a follow-up of seven years, researchers found that 95% of athletes with a dia…
Learn MoreGenetic Diseases Associated With 41 Percent of Infant Deaths
THURSDAY, March 2, 2023 (HealthDay News) — Single-locus genetic diseases are the most common cause of infant mortality and are associated with 41 percent of deaths, according to a study published online Feb. 9 in JAMA Network Open.Mallory J. Owen, M….
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