Specialty Pharma Journal Specialty, Precision & Technology
The U.S. Food and Drug Administration today expanded the approved use of Lynparza (olaparib tablets) to include the treatment of patients with certain types of breast cancer that have spread (metastasized) and whose tumors have a specific inherited (germline) genetic mutation, making it the first drug in its class (PARP …
Tag Archives: gene mutations
January, 2018
September, 2017
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1 September
Mayo Clinic Researchers Identify Genes Fueling Neuroblastoma Spread
ROCHESTER, Minn. — For the first time, Mayo Clinic researchers and colleagues present data on how nervous system tumors, called neuroblastomas, spread. Their paper, published in Cancer Cell, clarifies the relationship between two genes that fuel the aggressive spread of neuroblastomas. Neuroblastoma is a cancer that most commonly affects children age …
August, 2017
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4 August
Brain Tumor Scientists Map Mutation that Drives Tumors in Childhood Cancer Survivors
(TORONTO, Canada – Aug. 4, 2017) – Neuroscientists have uncovered the genetic basis for why many long-term survivors of childhood cancer develop meningiomas, the most common adult brain tumor, decades after their treatment with cranial radiation. The findings, published online today in Nature Communications, show that radiation causes genetic rearrangements in …
July, 2017
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14 July
New Data Network for Huntington’s Disease Research
Huntington’s disease is an hereditary disorder of the nervous system caused by a faulty gene on chromosome four. The faulty gene leads to cell death in neurons in the brain resulting in gradual physical, mental and emotional changes, and ultimately death. Those born to a parent with Huntington’s disease have …
March, 2017
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22 March
AML Study Correlates Gene Mutations with 34 Disease Subgroups
Columbus, Ohio – A large, new study of adults with acute myeloid leukemia (AML) correlates 80 cancer-related gene mutations with five subtypes of AML, which are defined by the presence of specific chromosomal abnormalities. Led by researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer …
November, 2016
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4 November
Genetic Mutations that Lead to Macular Degeneration Blindness Mapped by New Research
Two gene mutations that trigger a retinal disease that causes blindness in one in 5,000 males have been mapped, leading to the potential for new therapeutic treatments. Researchers from The University of Manchester undertook a structural analysis of X-linked Retinoschisis (XLRS), a genetic disease leading to a type of macular …
October, 2016
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26 October
Researchers Use CRISPR to Accelerate Search for HIV Cure
Researchers at UC San Francisco and the academically affiliated Gladstone Institutes have used a newly developed gene-editing system to find gene mutations that make human immune cells resistant to HIV infection. The team built a high-throughput cell-editing platform using a variant of CRISPR/Cas9 technology that allowed them to test how …
August, 2016
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10 August
Rare Genetic Variations May Solve Mystery of Porphyria Severity in Some Patients
An international research team has linked rare variations in a cell membrane protein to the wide variation in symptom severity that is a hallmark of porphyria, a rare disorder that often affects the skin, liver and nervous system. St. Jude Children’s Research Hospital helped to lead the research, which appears …
June, 2016
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20 June
‘Holy Grail’ of Breast Cancer Prevention in High-Risk Women May be in Sight
Australian researchers have discovered that an existing medication could have promise in preventing breast cancer in women carrying a faulty BRCA1 gene. People who carry a faulty BRCA1 gene are at high risk of developing aggressive breast cancer. Currently many women with a gene mutation choose surgical removal of their …
May, 2016
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11 May
Gene Mutations Shown to Cause Form of HSP
Scientists at the Montreal Neurological Institute and Hospital (MNI) have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a step forward in efforts to treat this debilitating disease. It is estimated that between two and 10 people per 100,000 in the general population have HSP, a disease characterized …