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Alnylam Disease & Therapeutic Areas

Welcome to our library of therapeutic area resources. Please select a therapeutic area of interest below to explore educational materials on pathology, epidemiology, diagnosis, and disease management.

 Disease & Therapeutic Areas

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Acute Hepatic Porphyria (AHP)

Acute Hepatic Porphyria (AHP) is a group of rare genetic diseases caused by heme biosynthesis dysregulation in the liver, leading to accumulation of neurotoxic intermediates such as aminolevulinic acid (ALA) and porphobilinogen (PBG). AHP presents with acute, potentially life-threatening attacks, and may also cause chronic symptoms that negatively impact patient functioning and quality of life.1,2

Explore our collection of clinical education resources to understand more about Acute Hepatic Porphyria (AHP).

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Transthyretin Amyloidosis (ATTR)

Transthyretin Amyloidosis (ATTR) is an underdiagnosed, rapidly progressing, fatal, multisystem disease, caused by misfolded TTR accumulating as amyloid deposits in multiple organs. Patients with ATTR amyloidosis experience progressively debilitating symptoms and high morbidity and mortality rates, making early intervention vital.3-6

Explore our collection of clinical education resources to understand more about Transthyretin Amyloidosis (ATTR).

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Cardiovascular (CV)

Cardiovascular disease from renin-angiotensin-aldosterone system (RAAS) dysfunction arises when overactivation of the pathway drives excess angiotensin II production, leading to vasoconstriction, sodium retention, vascular remodeling, and hypertension. The consequences of uncontrolled hypertension are associated with significant physical and quality of life impacts on patients' daily lives.7,8

Explore our collection of clinical education resources to understand more about Cardiovascular (CV) disease.

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Primary Hyperoxaluria Type 1 (PH1)

Primary Hyperoxaluria Type 1 (PH1) is a rare, metabolic disorder caused by alanine-glyoxylate aminotransferase (AGXT) gene mutations that result in a deficiency of liver-specific peroxisomal alanine-glyoxylate aminotransferase (AGT) and consequent overproduction of oxalate by the liver. Continuous oxalate overproduction may lead to progressive damage in the kidneys and other organs.9,10

Explore our collection of clinical education resources to understand more about Primary Hyperoxaluria Type 1 (PH1).

References:

  1. Moghe A, Dickey A, Erwin A, et al. Mol Genet Metab. 2023;140(3):107670.
  2. Simon A, Pompilus F, Querbes W, et al. Patient. 2018;11(5):527-537.
  3. Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Ann Med. 2015;47(8):625-638.
  4. Gertz MA. Am J Manag Care. 2017;23(7):S107-S112.
  5. Conceicao I, Gonzalez-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21:5-9.
  6. Ando Y, Coehlo T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  7. Kaur J, Rout P. StatPearls Publishing. 2026
  8. Oparil S, Acelajado MC, Bakris GL, et al. Nat Rev Dis Primers. 2018;4:18014.
  9. Fargue S, Acquaviva Bourdain C. Clin Kidney J. 2022;15(Suppl 1):i4-i8.
  10. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264-1271.

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Alnylam Therapies

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