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Your search for “rare diseases” returned 219 results

Scientists Link Evolved, Mutated Gene Module to Syndromic Autism

January 26, 2012

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.

How a Virus Causes Chromosomal Breakage, Leading to Cancer

April 13, 2023

UC San Diego researchers describe for the first time how the Epstein-Barr virus exploits genomic weaknesses to cause cancer while reducing the body’s ability to suppress it.

Bioengineering Professor Christian Metallo Receives 2017 Camille Dreyfus Teacher-Scholar Award

May 11, 2017

Christian Metallo, a bioengineering professor at the University of California San Diego, has been named a Camille Dreyfus Teacher-Scholar. Metallo is one of 13 faculty members nationwide to receive the honor from the Camille and Henry Dreyfus Foundation.

Liquid Droplets Shape How Cells Respond to Change

April 22, 2024

New research by scientists at University of California San Diego has shown that cells regulate cAMP/PKA signaling by forming liquid droplets that segregate excess PKA catalytic subunits where they can do no harm. Some cancers may block the formation of liquid droplets, leading to hyperactive signaling and tumor formation.

Compound Discovered at Sea Shows Potency against Anthrax

July 17, 2013

A team led by William Fenical at Scripps Institution of Oceanography at UC San Diego has discovered a new chemical compound from an ocean microbe in a preliminary research finding that could one day set the stage for new treatments for anthrax and other ailments such as methicillin-resistant Staphylococcus aureus…

Simplifying RNA Editing for Treating Genetic Diseases

February 10, 2022

New research led by bioengineers at the University of California San Diego could make it much simpler to repair disease-causing mutations in RNA without compromising precision or efficiency. The new RNA editing technology holds promise as a gene therapy for treating genetic diseases.

Potential Nutritional Therapy for Childhood Neurodegenerative Disease

August 1, 2013

…severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition.

Mutant Protein in Muscle Linked to Neuromuscular Disorder

April 16, 2014

…atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy. In a new study published in the online issue of Neuron, a team of scientists at the University of California, San Diego School of Medicine say novel mouse studies indicate that mutant protein levels…

MAGNET Study Sees Potential for MRE in Measuring Liver Fibrosis in Children

May 11, 2017

…to identify liver fibrosis in children. Nonalcoholic fatty liver disease (NAFLD) is now the most common cause of chronic liver disease in children, and scarring of the liver, known as fibrosis, is a major determinant of clinical outcomes.

New Test Spots Early Signs of Inherited Metabolic Disorders

January 9, 2012

A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious…

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