NF1: Neurofibromatosis 1 news digest for 7/30/16

GWAS

Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1 nature.com
 UAB Medical Genomics Laboratory Refines Its Genetic Testing Technology

UAB Medical Genomics Laboratory Refines Its Genetic Testing Technology

newswise.comThe Medical Genomics Laboratory at UAB is expanding its technological array with a new pane…

 

Genetic Makeup May Make Radiation Riskier for Pediatric Cancer Patients

Genetic Makeup May Make Radiation Riskier for Pediatric Cancer Patients

ucsf.eduGenetic vulnerabilities associated with childhood cancers may make children undergoing radiatio…

 

Childhood Cancer Research at UCSF to Transcend Tissue Types With Innovative Grant

Childhood Cancer Research at UCSF to Transcend Tissue Types With Innovative Grant

ucsf.eduResearchers at UCSF are leading a five-year, $10 million research project dedicated to pediatric cancer,…

Cancer causing genetic condition risk lower than previously thought

sciencedaily.comThe expected odds of children having a genetic condition which causes learning difficulties and tumors have been dramatically cut, than…

PGD

This baby was born free of cancer gene thanks to miracle doctors

This baby was born free of cancer gene thanks to miracle doctors

express.co.ukTHIS is the “designer baby” who has been saved from cancer before even being born.

Optic Glioma and brain tumors

Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

7thspace.comOptic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mut…

Rare Disease: Vinblastine Controls Neurofibromatosis-1 with Optic Glioma

Wolters Kluwer Health

Wolters Kluwer Health

journals.lww.comBackground: One of the well-established methods used to determine endurance training intensity for patients in outpatient cardiac rehabilitation (C…
'She should have had a scan'

‘She should have had a scan’

stuff.co.nzGrace Hooke had perfect handwriting before she broke her arm. It was an awkward fracture, about this time last year, right near the elbow. When the Timaru 8-ye…

Hearing Drug Therapy

Anticancer Drug Restores Hearing in Some Patients With Neurofibromatosis

oncologynurseadvisor.comDurable hearing response was achieved in more than one-third of patients with neur…

ADHD and Developmental Delay

Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms

7thspace.comCerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent rating…

Neurofibroma

Neurofibromatosis Treatment Market to Rise due to Growing Count of Drugs Under Clinical Trials |

medgadget.comThe growing count of drugs in clinical trials, poised to emerge as breakthrough treatment option…

New drug candidate developed against NF1 tumours

healthcanal.comBath researchers have worked with colleagues from the University of Michigan to design a pr…
Woman with no face says she is 'happy to be made this way'

Woman with no face says she is ‘happy to be made this way’

dailymail.co.ukWARNING GRAPHIC CONTENT: Khadija Khatoon, from India, has severe distorted feature…
 Boy with tumours on his face rejects surgery to save his smile
 

Boy with tumours on his face rejects surgery to save his smile

au.news.yahoo.comA brave young boy in the US with a disfigured face has turned down the chance to have life…
Young Panguru girl's rare disorder sparks need for more awareness

Young Panguru girl’s rare disorder sparks need for more awareness

maoritelevision.comAt just two months old, Drew Perham was diagnosed with a rare condition called Neuro…
Boss refuses to fire employee with genetic disorder - Regional | The Star Online

Boss refuses to fire employee with genetic disorder – Regional | The Star Online

thestar.com.myPETALING JAYA: A customer in Singapore wanted a dishwasher suffering from a genetic …
Mother tumour ravaged her looks has life-changing surgery 

Mother tumour ravaged her looks has life-changing surgery

dailymail.co.ukSamira Benhar, 39, from Casablanca, Morocco, has neurofibromatosis, a genetic condition wh
The teenage girl overjoyed to have her leg amputated

The teenage girl overjoyed to have her leg amputated

dailymail.co.ukTia Leigh, 14, from Cwmbran, Wales, was diagnosed with the genetic disorder neurofibromatosi…

Cardiovascular Disease

Researchers examine how neurofibromatosis causes premature cardiovascular disease

medicalxpress.comIt’s a fairly common genetic condition that can surface as a series of dark skin spots …

Melanoma

Dr. Michael Krauthammer on NF1 Mutations in Melanoma

Dr. Michael Krauthammer on NF1 Mutations in Melanoma

onclive.comMichael Krauthammer, MD, PhD, Associate Professor of Pathology, Yale School of Medicin…

MPNST

Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics

Original Article

nature.comModern Pathology features diagnostic anatomic pathology and contains original scientific papers, selected short courses, appropriate special lectures, reviews, editorials, letters to the editor, and Academy News. In many…

 

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Lauren Andreas Ager

Lauren Andreas Ager

chippewa.comSHAKOPEE, Minn. — Lauren Andreas Ager, 54, of Shakopee died Tuesday, Jan. 19, 2016, at University of Minnesota Medical Center, from peripheral n…

Cancer Risk Assessment

Neurofibromatosis — Best Data Yet on Risks for Cancer

medscape.comPatients with neurofibromatosis 1 have been reported to be at an increased risk for several malig…

Neurocutaneous Syndromes

60 Genetic Disorders Cause Skin And Nervous System Problems
ndtv.comThere are 60 genetic disorders that affect skin and nervous system in humans, researchers report.

Research Funding

DoD Neurofibromatosis Clinical Consortium Award – W81XWH-16-NFRP-CCA
open-grants.insidegov.comResearch this science and technology and other R&D cooperative agreement. See eligibility requirements, estimated fundi…

NF Research Centers

Physician-researcher struggles with challenging ‘Moonshot’ problem

Physician-researcher struggles with challenging ‘Moonshot’ problem

stljewishlight.comFor the past 25 years, Dr. David Gutmann has devoted his medical and research career to…
The UAB Mix - UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1

The UAB Mix – UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1

uab.eduOne major goal is the discovery of new genotype/phenotype correlations — how a particular muta…
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