New Genetic Method Promises to Advance Gene Research and Control Insect Pests
March 19, 2015
…with a powerful new tool to control insect borne diseases such as malaria as well as animal and plant pests.
Your search for “Rare Diseases” returned 232 results
Researchers Discover New Genetic Brain Disorder in Humans
April 24, 2014
A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.
Neurodevelopmental Model of Williams Syndrome Offers Insight into Human Social Brain
August 10, 2016
…and elsewhere, have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain.
New Grant Seeks to Fill Knowledge Gaps Regarding Spina Bifida
November 20, 2020
Researchers at UC San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine have been awarded a five-year, $8.3 million grant from the National Institutes of Health to investigate the causes of spina bifida, the most common structural defect of the central nervous system.
At Bat Against Rare Blood Cancers
September 20, 2016
University of California researchers to hold meeting in San Diego to discuss hematologic malignancies as part of the University of California Hematologic Malignancies Consortium, a first-of-its-kind research group that brings together the five UC health campuses conducting clinical studies for cancer patients. The consortium currently has four additional clinical trials…
Presence of Staph Bacteria in Skin Microbiome Promotes Netherton Syndrome Inflammation
March 3, 2020
Netherton syndrome is exacerbated by the presence of Staphylococcus aureus and Staphylococcus epidermidis living on human skin report University of California San Diego School of Medicine researchers.
Gene Mutations Cause Massive Brain Asymmetry
June 25, 2012
A team of doctors and scientists, led by researchers at the University of California, San Diego School of Medicine and the Howard Hughes Medical Institute, say de novo somatic mutations in a trio of genes that help regulate cell size and proliferation are likely culprits for causing hemimegalencephaly, though perhaps…
Evolutionary Gene Loss May Help Explain Why Only Humans are Prone to Heart Attacks
July 22, 2019
…may have resulted in a heightened risk of cardiovascular disease in all humans as a species, while also setting up a further risk for red meat-eating humans.
Patient Advocates and Big Pharma Fund Nation’s First Angioedema Treatment Center
February 5, 2015
…endow center to treat rare hereditary swelling disease Pictured at the grand opening of the US HAEA Hereditary Angioedema Center at UC San Diego are (left to right): Paul Viviano, UC San Diego Health System CEO; Dr. Marc Riedl, Center Clinical Director; Dr. Bruce Zuraw, Center Director; Anthony Castaldo, US…
Genetic Testing Cost Effective for Newly Diagnosed GIST
September 28, 2020
UC San Diego School of Medicine researchers reported that genetic testing is cost-effective and beneficial for newly diagnosed patients with metastatic gastrointestinal stromal tumors (GIST), a rare type of cancer.
