Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1. Such information is vital to help guide clinical management […]
Latest NFNE Medical & Science News & Information
Using Pig Animal Models for NF Research
A team of scientists wants to accelerate research into neurofibromatosis by using CRISPR to copy unique mutations from children who are affected by NF into pigs. When Charles Konsitzke and Dhanu Shanmuganayagam first met, they were both just trying to get some peace and quiet. It was early 2014, and they were representing the University […]
Increased Risk of Breast Cancer in NF1 Patients
In this review by scientists in the UK, they summarize the epidemiological data that irrefutably support a link between NF1 and an increased risk of early-onset breast cancer, to levels at which annual mammography is currently recommended in national high-risk screening programs. This was published in the Dove Medical Press Journal on August 21, 2017. […]
Gastrointestinal Problems in NF1
Paper published by Orphanet Journal of Rare Diseases addresses gastrointestinal problems associated with NF1. AUGUST 17, 2017 James Radke Neurofibromatosis type 1(NF-1) is most typically considered a rare skin condition, and people with it have multiple benign tumors of nerves and skin (neurofibromas). The most noticeable symptoms is abnormal pigmentation (cafe-au-lait spots) and/or freckling in […]
NF Research in England offers Hope to NF2 Patients
Scientists at the University of Plymouth reveal, for the first time, the role of the cellular prion protein in the development of neurofibromatosis 2 tumors — with potential impact on other cancers, too. Image on left is a schwannoma tumor cell. Credit: University of Plymouth New research published today, 10th July 2017, online in the […]
