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Ashfield reports back from the Orphan Drugs for Rare Diseases Summit

The event was well attended by healthcare experts and industry leaders, all keen to share learnings and experiences in the field of rare diseases. Through a series of presentations, the event explored the challenges of rare diseases from different perspectives including: High science and clinical development Commericalisation Patient support and communication Regulatory Some of the presentations focused on specific rare diseases whilst others explored broader themes. Highlights included: ‘Developing therapies for monogenic neurodegenerative disorders’ presented by Dr. Rajeev Sivasankaran Head – Rare Diseases, Neuroscience Division, Novartis Institution for BioMedical Research ‘From rare to common: targeting Gaucher defects for the treatment of Parkinson’s Disease’ presented by Dr. Pablo Sardi, Neuroscience Therapeutic Area, Sanofi ‘Precision medicine in chronic kidney diseases: zooming in and out rare diseases’ presented by Dr. Maria Chiara Magnone, Sr Director, Head of Translational Sciences CVMD iMed, AstraZeneca As sponsors of the conference, Ashfield was delighted to attend, meet with our pharma clients and deliver a presentation. Matt Brierley, VP Medical and Scientific Services, and Nagore Fernandez, Head of Patient Services for EUCAN, presented ‘From infancy to adulthood: a new generation of challenges for rare disease communities’ covering: Enabling timely, successful patient diagnosis Add...
Source: Ashfield Healthcare News - Category: Pharmaceuticals Authors: Tags: Ashfield Source Type: news

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Pulmonary hypertension (PH) is a rare disease often associated with high mortality and is recently recognized as a common complication secondary to chronic kidney disease (CKD). Epidemiological data for this d...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Research article Source Type: research
Because of the increasing aging population in Brazil and across the world, a progressive increase in the number of patients with chronic kidney diseases and, consequently, hemodialysis treatment for long periods is expected. Furthermore, this also serves as a requisite for the appearance of dialysis-related amyloidosis of the tongue. Amyloidosis is a rare disease that is generally difficult to diagnose and is related to the deposition of an extracellular proteinaceous substance called amyloid. This case report presents a case of lingual amyloidosis associated with hemodialysis in a 69-year-old man.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: Poster presentation Source Type: research
A significant portion of the key biological functions of αKlotho (αKL) and its cognate ligand Fibroblast growth factor-23 (FGF23) have been revealed through the study of rare diseases of mineral metabolism. These findings have far reaching implications for common disorders such as chronic kidney disease-mineral bone disorder (CKD-MBD). αKL's predominan t effect on mineral homeostasis is through its actions in the kidney as a co-receptor for FGF23, however emerging data has shed light on its capacity to act as a circulating factor through the cleavage of the transmembrane form of αKL (‘mKL&rsqu...
Source: Bone - Category: Orthopaedics Authors: Tags: Review Article Source Type: research
Calcific uraemic arteriolopathy (CUA), or calciphylaxis, is a rare disease predominantly occurring in comorbidity with dialysis. Due to the very low frequency of CUA, prospective studies on its management are lacking and even anecdotal reports on treatment remain scarce. Therefore, calciphylaxis is still a challenging disease with dismal prognosis urgently requiring adequate strategies for diagnosis and treatment. In an attempt to fill some of the current gaps in evidence on various, highly debated and controversial aspects of dialysis-associated calciphylaxis, 13 international experts joined the 1st Consensus Conference o...
Source: Nephrology Dialysis Transplantation - Category: Urology & Nephrology Authors: Tags: NDT PERSPECTIVES Source Type: research
Authors: Wu F, Xu Y, Xia M, Ying G, Shou Z Abstract Hookworm infections as well as other intestinal nematodiases are endemic in China. In this case, a 70-year-old male showed symptoms of chest tightness, shortness of breath, and both lower extremities edema. The diagnostic result was chronic renal insufficiency, chronic kidney disease (5th stage), and renal anemia at first. Then, he received treatment with traditional drugs. However, this treatment did not help to alleviate the symptoms of the patient significantly. The results of gastroendoscopy showed hookworms in the duodenum, also confirmed by pathology examina...
Source: Korean Journal of Parasitology - Category: Parasitology Tags: Korean J Parasitol Source Type: research
Abstract: Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease, defined by the association of idiopathic acute TINU. The aim of our work was to determine the characteristics of adult TINU syndrome in France, and to assess factors (including treatment) influencing medium-term prognosis. We conducted a nationwide study including 20 French hospitals. Clinical, laboratory, and renal histopathologic data of 41 biopsy-proven TINU syndromes were retrospectively collected. The patients were diagnosed between January 1, 1999 and December 1, 2015. Twenty-five females and 16 males were included (F/M ratio: 1.6...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Publication date: 14–20 May 2016 Source:The Lancet, Volume 387, Issue 10032 Author(s): Jürgen Floege, Kerstin Amann Most glomerulonephritides, even the more common types, are rare diseases. They are nevertheless important since they frequently affect young people, often cannot be cured, and can lead to chronic kidney disease, including end-stage renal failure, with associated morbidity and cost. For example, in young adults, IgA nephropathy is the most common cause of end-stage renal disease. In this Seminar, we summarise existing knowledge of clinical signs, pathogenesis, prognosis, and treatment of glomeru...
Source: The Lancet - Category: Journals (General) Source Type: research
Most glomerulonephritides, even the more common types, are rare diseases. They are nevertheless important since they frequently affect young people, often cannot be cured, and can lead to chronic kidney disease, including end-stage renal failure, with associated morbidity and cost. For example, in young adults, IgA nephropathy is the most common cause of end-stage renal disease. In this Seminar, we summarise existing knowledge of clinical signs, pathogenesis, prognosis, and treatment of glomerulonephritides, with a particular focus on data published between 2008 and 2015, and the most common European glomerulonephritis typ...
Source: LANCET - Category: Journals (General) Authors: Tags: Seminar Source Type: research
We report the first case in which spondylitis with bacteremia caused by Campylobacter fetus subsp. testudinum, which was identified by 16S ribosomal ribonucleic acid (rRNA) gene sequencing. An 81 year-old man presented with fever and general weakness. His medical history included end-stage renal disease, hypertension, and type 2 diabetes. Despite empirical antibiotic treatment, fever and back pain persisted. Magnetic resonance imaging with gadolinium enhancement showed a low-signal-intensity lesion in T1-weighted imaging and a high-signal-intensity lesion in T2-weighted imaging at the L3 vertebra body. Campylobacter fetus ...
Source: Japanese Journal of Infectious Diseases - Category: Infectious Diseases Authors: Tags: Jpn J Infect Dis Source Type: research
We report a case of a patient with a history of TRAPS who received a kidney transplant 11 years ago and still has functioning kidney transplant despite recurrence of amyloidosis and proteinuria.
Source: Transplantation Proceedings - Category: Transplant Surgery Authors: Tags: Recent Advances in Transplantation Source Type: research
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