On Rare Disease Day, Alnylam launches patient advocacy grant program

In honor of Rare Disease Day, Alnylam Pharmaceuticals has launched a grant program for patients advocacy groups increasing awareness of two uncommon diseases. Alnylam (Nasdaq: ALNY) announced the first seven recipients of its new Advocacy for Impact Grants program Thursday. Through the program, the drug company will give out $248,000 to organizations focused on the rare diseases acute hepatic porphyria and ATTR amyloidosis. The activities of those grou ps include advocating for better diagnosis…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news

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Authors: Reimer A, Has C Abstract Syndromic disorders with skin fragility belong to different groups of genodermatoses: epidermolysis bullosa (EB), Ehlers-Danlos syndrome and porphyria. The genetic defects mainly concern structural proteins which assure the mechanical stability of the skin and other tissues. Depending on the expression pattern of the affected protein in the skin, cutaneous fragility may manifest as superficial erosions, blisters, wounds, wound healing defects or scars. Extracutaneous manifestations are manifold and involve the heart, skeletal muscles, intestine, kidneys, blood vessels or the skelet...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
Authors: Chen L, Luodelete M, Dong C, Li B, Zhang W, Nie P, Liu J, Chen X, Luo P Abstract Background: To investigate the pathological spectrum of glomerular disease in patients with renal insufficiency (RI) from 2008 to 2017. Methods and results: We calculated the estimated glomerular filtration rate (eGFR) with the Chronic Kidney Disease Epidemiology Collaboration creatinine (CKD-EPI) equation and defined RI as an eGFR
Source: Renal Failure - Category: Urology & Nephrology Tags: Ren Fail Source Type: research
ConclusionsPersistent oral N-acetylcysteine may be an alternative treatment option for secondary PAP.
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
A Chicago biotech claims in a new lawsuit that Cambridge venture capital firm Third Rock Ventures and bluebird bio CEO Nick Leschly worked to hinder its drug development efforts so it could more easily obtain a key part of its intellectual property. Errant Gene Therapeutics is suing Third Rock Ventures and Leschly three years after it sued New York-based Sloan Kettering Memorial Cancer Center over a stalled rare disease trial. In the lawsuit, filed on Friday in Suffolk County Superior Court, Errant…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
Rare diseases specialist Swedish Orphan Biovitrum (Sobi) has agreed to buy the drug emapalumab and is reorganizing to increase focus on late-stage development in hematology and immunology.Reuters Health Information
Source: Medscape Allergy Headlines - Category: Allergy & Immunology Tags: Family Medicine/Primary Care News Source Type: news
A Chicago biotech claims in a new lawsuit that Cambridge venture capital firm Third Rock Ventures and bluebird bio CEO Nick Leschly worked to hinder its drug development efforts so it could more easily obtain a key part of its intellectual property. Errant Gene Therapeutics is suing Third Rock Ventures and Leschly three years after it sued New York-based Sloan Kettering Memorial Cancer Center over a stalled rare disease trial. In the lawsuit, filed on Friday in Suffolk County Superior Court, Errant…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of g...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, kerata...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Systemic amyloidosis is a devastating group of disorders for which there is no current cure. The treatment goal is to reduce the burden of amyloidogenic protein precursors. The treatment is only effective if a...
Source: Diagnostic Pathology - Category: Pathology Authors: Tags: Short report Source Type: research
Amyloid deposition of WT human β2-microglobulin (WT-hβ2m) in the joints of long-term hemodialysis patients is the hallmark of dialysis-related amyloidosis. In vitro, WT-hβ2m does not form amyloid fibrils at physiological pH and temperature unless co-solvents or other reagents are added. Therefore, understanding how fibril formation is initiated and maintained in the joint space is important for elucidating WT-hβ2m aggregation and dialysis-related amyloidosis onset. Here, we investigated the roles of collagen I and the commonly administered anticoagulant, low-molecular-weight (LMW) heparin, in the initia...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
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