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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Sinonasal undifferentiated carcinoma (SNUC) is a rare, poorly differentiated and aggressive malignancy of the nasal cavity and paranasal sinuses first reported by Frierson et al. in 1986 with less than 300 known cases reported since then. Due to the rarity and aggressive nature of the disease, there is a lack of consensus regarding optimal management in these patients. Treatment decisions have mostly been guided by a small number of cases series and can vary widely between institutions. In this unique case presentation, we review a case of sinonasal undifferentiated carcinoma in a young Hispanic male reviewing the literatu...
Source: Case Reports in Oncology - Category: Cancer & Oncology Source Type: research
A study by MAP BioPharma found only 13 per cent of rare disease medicines made it through The National Institute for Health and Care Excellence (NICE) assessments.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
AbstractWe aimed to analyze 10-year experience of WAIHA patients at a single referral center in Turkey. Clinical data, survival outcome of sixty patients who were diagnosed with WAIHA were retrospectively analyzed. All the patients were direct antiglobulin test (DAT) positive. In 21 (30%) patients, IgG plus C3d DAT positivity was documented. 16 patients were secondary WAIHA and most common underlying causes were lymphoproliferative diseases (5 patients) and connective tissue disease (8 patients). Corticosteroids were first choice as a first line therapy with 54.5% CR and 40.2% PR rates. 43.3% of the patients relapsed after...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
We present here ultrasound features of two cases of different uterine sarcoma subtypes.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Movies Case Reports 6 – Oncology Source Type: research
Introduction: Although vulvar cancer is a rare disease representing approximately 4% of all female genital cancers, its incidence is increasing, particularly among younger women.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Basic Science 5 – Oncology Source Type: research
Periodic alternating ping-pong gaze (PPG) is a rare disease with few reports. To our knowledge, there was no report on anti GQ1b antibody syndrome accompanied by PPG. This paper reported a case of anti GQ1b an...
Source: BMC Neurology - Category: Neurology Authors: Tags: Case report Source Type: research
Recurrent Respiratory Papillomatosis (RRP) is a rare disease caused by the human papilloma virus that presents as warty, exophytic growths in the upper airway. RRP in the larynx can lead to severe airway obstruction and voice changes. It is clinically known that patients with RRP frequently experience dysphonia. The purpose of this study was to assess the impact of multiple surgical treatments on RRP patients ’ voice outcomes, and to determine whether a higher number of repeated surgeries lead to decreased voice quality.
Source: Journal of Voice - Category: ENT & OMF Authors: Source Type: research
ConclusionsThe access to economic and social data on phenylketonuria in Spain has been updated. The number of admissions in Spain between 1997 and 2015 and healthcare costs between 1999 and 2015 were calculated. There were 24 admissions as a result of a phenylketonuria diagnosis in 2015 and the mean healthcare cost per patient was €4239.32. This information can help to adapt and improve each healthcare system to take into consideration rare diseases.
Source: Clinical Drug Investigation - Category: Drugs & Pharmacology Source Type: research
Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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