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Results for: Rare Diseases
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Article ItemA challenge of rare disease: Roanoke woman went undiagnosed for nearly seven decades , article
Susan Wallace, who thrived in the face of many struggles, was in her late 60s when she was diagnosed with DiGeorge syndrome. Then her brother learned research into the rare genetic disorder was taking place within walking distance of his home.
Date: Feb 26, 2024 -
Article ItemScientists detect deadly arrhythmia trifecta: Salt, swelling, and leaky sodium channels , article
Cardiovascular 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 ItemVeterinarian alumna helps solve deadly mysteries for the CDC , article
In 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 ItemRare disease research gives families hope, ‘vital’ to advancing medicine , article
Rare 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 ItemScientists identify neural disruptions underlying feeding, swallowing disorders in children , article
In 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 ItemTBMH graduate student awarded NIH fellowship to study how the CASK gene regulates brain function , article
Paras 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 ItemSwallowing difficulties in children with developmental disorders may be due to misfiring brain cells , article
Problems 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 ItemVirginia Tech scientists link rare medical condition to its cause , article
Using 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 ItemFralin Biomedical researchers shed light on how to protect optic nerve from genetic harm , article
Virginia 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 ItemVTCRI researchers join forces to improve life for children with genetic disorder , article
The 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 ItemResearchers discover molecular mechanism of hereditary, tumor-causing disease , article
Von 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