Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic ...

Porphyria cutanea tarda (PCT) is a common form of hepatic porphyria characterized by symptoms such as fragile, blister-prone skin particularly on sun-exposed areas. The condition occurs due to an ...

Please provide your email address to receive an email when new articles are posted on . Clinicians are hoping an RNA interference therapeutic targeting aminolevulinic acid synthase 1, known as ...

Givlaari (givosiran) is a prescription drug approved to treat acute hepatic porphyria (AHP). Givlaari comes as an injection given under the skin by a healthcare provider. Specifically, Givlaari is ...

DEAR DR. GOTT: I am a concerned grandmother writing about my 11-year-old granddaughter. She was diagnosed with porphyria at the age of two. Her hands and feet start hurting so badly that she has to ...

About Givosiran Alnylam is developing givosiran (formerly known as ALN-AS1), a subcutaneously administered, investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) for the ...

BOSTON--Dana-Farber Cancer Institute researchers say they have uncovered a molecular explanation for the episodic attacks of irrational and demented behavior in porphyria, the disease believed to have ...

WEST DES MOINES, Iowa — Feb. 29, the rarest day of the year, marks the celebration of Rare Disease Day. The goal of the day is to raise awareness and support as in the United States, one in 10 people ...

ORLANDO, Fla., Feb. 19, 2020 /PRNewswire/ -- The Assistance Fund (TAF), an independent charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs ...

Amalia is an Alnylam patient ambassador and was sponsored to share her story through art. At first, Amalia was like any other college freshman — excited for new adventures, eager to meet new friends ...