Tag Archives: genetic mutations

August, 2017

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 …
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7 December
Survey Finds Approximately 1 in 5 Advanced Lung Cancer Patients Still at Risk of Missing out on Targeted Therapy

RIDGEFIELD, Conn., Dec. 7, 2016 /PRNewswire/ — According to responses from U.S. oncologists that participated in a global survey, in more than one-third (38%) of patients with non-small cell lung cancer (NSCLC), treatment decisions are made without knowing their epidermal growth factor receptor (EGFR) genetic mutation status. The findings of …
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30 November
Evotec and Merck KGaA Collaborate for Faster Target Identification Solution

BILLERICA, Mass., Nov. 30, 2016 /PRNewswire/ — Merck, a leading science and technology company, today announced that it has entered into a set of agreements with Evotec AG, whereby Evotec AG will provide screening services for Merck’s collection of genetic reagents such as CRISPR and shRNA libraries. Combining access to …
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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 …
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8 June
Study Sheds Light on Uncategorized Genetic Mutations in Cystic Fibrosis

LOS ANGELES–(BUSINESS WIRE)–When it comes to cystic fibrosis (CF), more than 2,000 different genetic mutations have been reported. However, only 200 of them have been categorized – leaving a genetic soup of 1,800 others for scientists and genetic counselors to figure out. A new study led by researchers at Children’s …
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12 February
Study Finds More Young Women with Breast Cancer are Undergoing Genetic Testing

The vast majority of young women with breast cancer are being tested for mutations in the cancer-susceptibility genes BRCA1 and BRCA2, a new study led by Dana-Farber Cancer Institute investigators suggests, and many of them are using the results of those tests to guide their treatment. The study, published in …
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27 January
Geisinger Researchers Discover 17 Genes Related to Brain Disorders

DANVILLE, Pa., Jan. 27, 2016 /PRNewswire-USNewswire/ — A recent study led by a team of researchers at Geisinger Health System’s Autism & Developmental Medicine Institute (ADMI) identified 17 new genes causing autism and other related brain disorders, including intellectual disability/developmental delay, epilepsy, attention deficit hyperactivity disorder, schizophrenia, and bipolar disorder. …
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12 October
Sequenom Partners with UKE to Test Utility of Liquid Biopsy in Colorectal Cancer

SAN DIEGO, Oct.12, 2015 /PRNewswire/ — Sequenom, Inc. (NASDAQ: SQNM), a life sciences company committed to enabling healthier lives through the development of innovative products and services, today announced that it has entered into a clinical collaboration with University Medical Center Hamburg-Eppendorf (UKE) in Germany. UKE and Sequenom will collaborate to profile circulating …
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26 March
Amgen’s deCODE Genetics Study Reveals Clues to Disease-Causing Genes

Amgen’s deCODE Genetics published four landmark papers built on whole-genome sequence data from more than 100,000 people from across Iceland. Research groups led by scientists from Amgen’s deCODE Genetics reported data that comprise the largest set of human genome sequenced from a single population in Nature Genetics. Four separate papers …
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