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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A guide of patient selection for establishing the diagnosis of lymphangioleiomyomatosis (LAM) by transbronchial lung biopsy (TBLB) has not been established, although the pathological confirmation of LAM by lun...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ConclusionWe conclude that POx has a limited validity as a primary endpoint for clinical studies in PH1 patients with stable kidney function. In addition, it does not correlate to SCr and eGFR in this group of patients.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research
AbstractIn genetic prion diseases (gPrD), five genetic variants (E200K, V210I, V180I, P102L, and D178N) are responsible for about 85% of cases. The R208H is one of the several additional rare mutations and to date, only 16 cases carrying this mutation have been reported worldwide. To describe the phenotypic features of 5 affected patients belonging to apparently unrelated Sardinian (Italian) families with R208H gPrD, and provide evidence for a possible founder effect are the aims of this study. The R208HPRNP mutation has a much higher relative frequency in Sardinia than elsewhere in Italy (72% vs. 4.4% of gCJD cases). Our ...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsJE treatment should be carefully considered because some patients require surgery, whereas others are controlled with conservative treatment alone. A higher DCI value in patients with JE may predict resistance to conservative treatment.
Source: Esophagus - Category: Gastroenterology Source Type: research
We report here, in simian immunodeficiency virus (SIV)+ rhesus macaques and patients diagnosed with HIV, brain region–specific up-regulation of amyloid precursor protein (APP) and Aβ (40 and 42) in astrocytes. In addition, we find increased expression of β-site cleaving enzyme (BACE1), APP, and Aβ in human primary astrocytes (HPAs) exposed to Tat. Mechanisms involved up-regulation of hypoxia- inducible factor (HIF-1α), its translocation and binding to the long noncoding RNA (lncRNA) BACE1‐antisense transcript (BACE1-AS), resulting, in turn, in the formation of the BACE1-AS/BACE1 RNA complex, su...
Source: PLoS Biology: Archived Table of Contents - Category: Biology Authors: Source Type: research
ConclusionsSCID is a rare disease with significant mortality. Newborn screening may give the opportunity to improve the prognosis in a significant number of children with SCID.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research
Last week I was contacted by Stephen Quinn, a Ph.D. student at Queen’s University in Belfast. He informed me about a study called IMPaCCT whose intent is to look at the effect that the current Covid-19 crisis has had, and is having, on pre-cancer, cancer and rare disease patients and their caregivers. The researchers, which include Stephen, hope to be able to use this data to inform patients and caregivers, as well as publish their findings in scientific journals. He asked for my help in reaching out to smoldering myeloma and MGUS patients. Of course! So, how can we help? By taking their online SURVEY. I am about to...
Source: Margaret's Corner - Category: Cancer & Oncology Authors: Tags: Blogroll ImpaCCt study Source Type: blogs
Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
We report a case of BADI in a 10-year-old child after accidental exposure to a herbal insecticide. Spontaneous iris repigmentation was observed during the follow-up period.
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
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