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Your search for “Rare Diseases” returned 232 results

Single Gene Mutation Linked to Diverse Neurological Disorders

October 9, 2013

…of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer’s, Parkinson’s and Huntington’s diseases.

Genetic Mutations of Appendix Cancer Identified, May Impact Treatment

August 8, 2018

…appendiceal tumors — the largest such study of this disease to date — to compare mutations present in both cancer types.

Dysfunction in Neuronal Transport Mechanism Linked to Alzheimer’s Disease

October 12, 2016

…underappreciated role in promoting the heritable form of Alzheimer’s disease (AD), but also one that might be remedied with existing therapeutic enzyme inhibitors.

Stem Cell-derived “Mini-brains” Reveal Potential Drug Treatment for Rare Disorder

September 8, 2015

Using “mini-brains” built with induced pluripotent stem cells derived from patients with a rare, but devastating, neurological disorder, researchers at University of California, San Diego School of Medicine say they have identified a drug candidate that appears to “rescue” dysfunctional cells by suppressing a critical genetic alteration.

Researchers Create Model of Anorexia Nervosa Using Stem Cells

March 14, 2017

An international research team, led by scientists at University of California San Diego School of Medicine, has created the first cellular model of anorexia nervosa (AN), reprogramming induced pluripotent stem cells (iPSCs) derived from adolescent females with the eating disorder.

Selective, Toxin-Bearing Antibodies Could Help Treat Liver Fibrosis

July 12, 2021

UC San Diego researchers discovered that immunotoxins targeting the protein mesothelin prevent liver cells from producing collagen, a precursor to fibrosis and cirrhosis, in mouse models of human disease.

Gene Therapy Finds New Life in an Old Home

November 10, 2022

An international symposium November 17-18, 2022 at UC San Diego will discuss current clinical trials using gene therapy, here and abroad.

New wearable sensor tracks Vitamin C levels in sweat

May 18, 2020

A team at the University of California San Diego has developed a wearable, non invasive Vitamin C sensor that could provide a new, highly personalized option for users to track their daily nutritional intake and dietary adherence. The study was published in the May 18, 2020 issue of ACS Sensors.

Smartly Done

May 18, 2023

Across disciplines and specialties, from cells to systems, artificial intelligence is on its way to altering how we understand and treat disease.

Promising Clinical Trial Results for Drug for Rare Disease in Which Patients Can’t Eat Fat

August 7, 2019

In a Phase III clinical trial, the drug volanesorsen significantly reduced blood fat (triglyceride) levels in participants with a rare disease called familial chylomicronemia syndrome; finding could also help inform better prevention methods and treatments for many types of heart disease.

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