Tags
Results for: Rare Diseases
-
Article Item
Scientists detect deadly arrhythmia trifecta: Salt, swelling, and leaky sodium channels , articleCardiovascular researchers led by Steven Poelzing at Virginia Tech’s Fralin Biomedical Research Institute at VTC have published a new study describing how deadly arrhythmias arise from elevated sodium levels, heart tissue irritation and swelling, and sodium channel abnormalities associated with Long QT syndrome.
Date: May 24, 2022 -
Article Item
Veterinarian alumna helps solve deadly mysteries for the CDC , articleIn helping to identify the source of four cases of melioidosis, Capt. Jennifer McQuiston, a CDC epidemiologist trained at the Virginia-Maryland College of Veterinary Medicine, was part of the team that stopped the spread of the disease that left two people dead.
Date: Mar 21, 2022 -
Article Item
Rare disease research gives families hope, ‘vital’ to advancing medicine , articleRare diseases afflict 300 million people worldwide. Fralin Biomedical Research Institute at VTC researchers are bridging a gap in scientific knowledge by studying some of the diseases that together add up to a formidable public health challenge. Feb. 28 marks the 14th international Rare Disease Day.
Date: Feb 28, 2022 -
Article Item
Scientists identify neural disruptions underlying feeding, swallowing disorders in children , articleIn a new study published in Disease Models & Mechanisms, Fralin Biomedical Research Institute at VTC scientists led by Anthony-Samuel LaMantia depict the early development of pain-sensing and movement-sensing neurons in the face and throat. The findings reveal a previously unexplored feature of brain and cranial nerve development underlying eating, swallowing, and speech.
Date: Feb 21, 2022 -
Article Item
TBMH graduate student awarded NIH fellowship to study how the CASK gene regulates brain function , articleParas Patel, a Virginia Tech translational biology, medicine, and health graduate student working at the Fralin Biomedical Research Institute at VTC, was awarded a National Institutes of Health grant that will fund his remaining predoctoral research exploring how a rare mutation in the CASK gene causes certain brain regions to deteriorate shortly after birth.
Date: Jun 15, 2021 -
Article Item
Swallowing difficulties in children with developmental disorders may be due to misfiring brain cells , articleProblems ingesting, chewing, or swallowing food occur in up to 80 percent of children with developmental disorders and can lead to food aspiration, choking, or life-threatening respiratory infections.
Date: Sep 01, 2020 -
Article Item
Virginia Tech scientists link rare medical condition to its cause , articleUsing CRISPR genome editing in zebrafish, scientists with the Fralin Biomedical Research Institute at VTC linked an undiagnosed human disease with a rare genetic mutation that causes craniofacial abnormalities.
Date: Apr 30, 2020 -
Article Item
Fralin Biomedical researchers shed light on how to protect optic nerve from genetic harm , articleVirginia Tech scientists at the Fralin Biomedical Research Institute have developed a new insight about the most common form of inherited childhood blindness known as optic nerve hypoplasia.
Date: Mar 20, 2020 -
Article Item
VTCRI researchers join forces to improve life for children with genetic disorder , articleThe accomplishments of three girls who received intensive therapy based on innovative pediatric neurorehabilitation research at the VTCRI have been documented in a report published in BMC Research Notes.
Date: Mar 22, 2018 -
Article Item
Researchers discover molecular mechanism of hereditary, tumor-causing disease , articleVon Hippel-Lindau syndrome is a rare disease, affecting about one in every 36,000 people, according to the National Institutes of Health. People with the disorder have an increased risk for developing cancer, but a main concern is on the syndrome’s characteristic benign growths.
Date: Mar 07, 2018