First US attempt to cure a rare disease with genome editing fails miserably 

Sangamo Therapeutics tried to cure two forms of a rare genetic disease using 'zinc finger' gene editing. They successfully changed the genome, but it didn't work to lessen or stop the diseases' effects.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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FDA busted two manufacturers of silicone gel-filled breast implants this week for failure to comply with post-approval study requirements. The agency sent warning letters to Irvine, CA-based Mentor Worldwide, a unit of Johnson &Johnson, and to Santa Barbara, CA-based Sientra for deficiencies in each company's post-approval study for silicone breast implant approvals. Breast implants have been a source of contention between patient advocacy groups, industry, and FDA for decades. Implants were banned from the U.S. market from 1992 to 2006, and the devices have been the cause of an over...
Source: MDDI - Category: Medical Devices Authors: Tags: Regulatory and Compliance Source Type: news
e M Abstract Biomarkers indicating characteristic alterations in the brains of pain patients would in comparison to behavioral examinations allow for earlier diagnoses of pain disease development, a more immediate monitoring of pain disease progression, and for the development of interventions to reverse or compensate for the alterations. To reveal causal relations between an observed alteration and the pain disease longitudinal examinations are essential. Resting-state fMRI examinations can readily be included in large longitudinal cohorts allowing to achieve sufficiently large patient samples even for rare disea...
Source: Brain and Cognition - Category: Neurology Authors: Tags: Brain Cogn Source Type: research
Authors: Kohlschütter A, van den Bussche H Abstract The correct and early diagnosis of a rare disease in children is of particular importance in regard to the frequently fateful consequences for young families. Even well-known rare diseases are diagnosed with unacceptable delay in many countries. After decades of studying medical histories with delayed diagnoses and the respective literature, we describe the often severe aftereffects of a late diagnosis. We point out the underlying problems on the part of the physicians involved, of the affected families and of the health system in Germany, in particular with ...
Source: Zeitschrift fur Evidenz, Fortbildung und Qualitat im Gesundheitswesen - Category: Health Management Tags: Z Evid Fortbild Qual Gesundhwes Source Type: research
Modular and adaptive clinical trials are rapidly expanding the ability of researchers to modify clinical trials based on emerging data, i.e. to make better decisions based on positive clinical...(PRWeb March 19, 2019)Read the full story at https://www.prweb.com/releases/agility_in_rare_disease_and_oncology_clinical_trials_data_management_new_webinar_hosted_by_xtalks/prweb16178993.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
Primary gastric squamous cell carcinoma (SCC) is a very rare disease. The origin of this tumor remains unclear, although there are some hypotheses.
Source: World Journal of Surgical Oncology - Category: Cancer & Oncology Authors: Tags: Case report Source Type: research
ConclusionThe particularity of this observation is the bilaterality of the lesion on both forearms and it has not previously been reported. Langerhans cell histiocytosis should be included in the differential diagnosis of osteomyelitis and Ewing ’s sarcoma.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Cochrane is made up of  13,000 members and over 50,000 supporters come from more than 130 countries, worldwide. Our volunteers and contributors are researchers, health professionals, patients, carers, people passionate about improving health outcomes for everyone, everywhere.Cochrane is an incredible community of people who all play their part in improving health and healthcare globally. We believe that by putting trusted evidence at the heart of health decisions we can achieve a world of improved health for all.  Many  of our contributors are young people working with Cochrane ...
Source: Cochrane News and Events - Category: Information Technology Authors: Source Type: news
Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by localized, non-pitting, and transient swelling of submucosal or subcutaneous region. Human fetuin-A is a multifunctional glyc...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractA physiologically based pharmacokinetic (PBPK) model was used to simulate the impact of elevated levels of interleukin (IL)-6 on the exposure of several orally administered cytochrome P450 (CYP) probe substrates (caffeine, S-warfarin, omeprazole, dextromethorphan, midazolam, and simvastatin). The changes in exposure of these substrates in subjects with rheumatoid arthritis (and hence elevated IL-6 levels) compared with healthy subjects were predicted with a reasonable degree of accuracy. The PBPK model was then used to simulate the change in oral exposure of the probe substrates in North European Caucasian, Chinese...
Source: The AAPS Journal - Category: Drugs & Pharmacology Source Type: research
ConclusionCapturing patient experience data with sufficient rigor allows it to contribute to the body of evidence utilized in regulatory, payer, and prescriber decision-making. Adding PPC and CPC Assessments to rare disease clinical trials offers an innovative and powerful way to tap into the unique insights of patients and their families to develop a fuller picture of the patient experience in the clinical trial.FundingStealth BioTherapeutics Inc.
Source: Advances in Therapy - Category: Drugs & Pharmacology Source Type: research
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