$12 million coming to UAB for research into genetic disorder

Four researchers at the UAB School of Medicine will put a deep focus on a genetic disorder over the next three years. The Gilbert Family Foundation will allocate $12 million over the next three years to UAB researchers exploring developmental and possibly curative therapies to address the underlying genetic abnormalities of neurofibromatosis type 1 (NF1), a multisystem genetic disorder. The incoming funding is part of the Gilbert Family Foundation’s Gene Therapy Initiative. The goal of the…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news

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This report describes the first case of bilateral sporadic intracochlear schwannomas in a patient with no genetic or clinical features of NF2. PMID: 31598774 [PubMed - as supplied by publisher]
Source: HNO - Category: ENT & OMF Tags: HNO Source Type: research
ConclusionMPNST are difficult to manage because of their aggressive nature and the limitations in early diagnosis and management. In patients with Von Recklinghausens disease, malignancy must be suspected when a patient presents with the complaints as mentioned in this case report.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
In this report, the authors review the mechanisms, subtypes, and approaches to treatment of DIC with a focus on the bleeding subtype. If this subtype is refractory to blood product administration (> 24 hours), recombinant factor VIIa is a safe and effective option. A wound VAC can be safely utilized with exposed dura if deemed necessary by the surgeon; however, the volume and characteristics of the output should be closely monitored. The use of unconventional surgical solutions may provide options to mitigate the morbidity associated with refractory DIC in spine surgery. PMID: 31604327 [PubMed - as supplied by publisher]
Source: Journal of Neurosurgery.Spine - Category: Neurosurgery Authors: Tags: J Neurosurg Spine Source Type: research
Purpose of review Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. This review highlights their overlapping phenotypes, new insight into NF2 phenotype and treatment outcomes. Recent findings Mosaic NF2 is more prevalent than previously thought. Use of next-generation sequencing and tumour testing is needed to differentiate mosaic NF2 and schwannomatosis. Developing NF2 phenotypic insights include vasculopathy with brainstem infarction and vessel stenosis; focal cortical dysplasia in severe phenotypes; swallowing...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: HEMATOLOGIC MALIGNANCIES: Edited by Miguel A. Sanz Source Type: research
Purpose of review The current review summarizes recent advances on three important issues in neurofibromatosis type 1 (NF1) management: the identification of specific NF1 gene mutations predicting the risk for developing neurological malignancies; the molecular features of NF1-associated tumors and their differences from sporadic neoplasms; genetic, epigenetic, or microenviromental factors leading benign tumors to a malignant transformation in NF1. Recent findings The association between the risk of developing optic pathway glioma and specific germiline NF1 mutations is still debated and further studies are needed wit...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: BRAIN AND NERVOUS SYSTEM: Edited by Marc Sanson Source Type: research
PMID: 31588991 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
Genetics in Medicine, Published online: 08 October 2019; doi:10.1038/s41436-019-0671-2Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
BACKGROUND AND PURPOSE: There is a general assumption in the cerebrovascular literature that there is an association between carotid artery tortuosity and connective tissues disease; however, this has not been firmly established. The purpose of this study was to determine the prevalence of carotid artery tortuosity in patients with connective tissue diseases relative to matched controls. MATERIALS AND METHODS: Patients with previous CTA or MRA and a diagnosis of connective tissue diseases were identified and compared with a cohort of age-matched controls. Radiologists blinded to the diagnosis reviewed the images and evalu...
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: EXTRACRANIAL VASCULAR Source Type: research
Nakatomi Saito The efficacy of radiosurgery for neurofibromatosis type 2 (NF2)-associated vestibular schwannoma (VS) remains debatable. We retrospectively analyzed radiosurgical outcomes for NF2-associated VS compared to sporadic VS using our database of 422 consecutive VS patients. Twenty-five patients with 30 NF2-associated VSs with a mean follow-up of 121 months were identified. NF2-associated VSs exhibited excellent tumor control (10-year cumulative rate, 92% vs. 92% in sporadic VSs; p = 0.945) and worse overall survival (73% vs. 97%; p = 0.005), mainly due to tumor progression other than the treated VSs. The...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
This article summarizes the clinical features, diagnostic work-up, and management of NF1. PMID: 31582003 [PubMed - in process]
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
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