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Your search for “Williams Syndrome” returned 30 results

Single Gene Mutation Linked to Diverse Neurological Disorders

October 9, 2013

…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.

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.

Dysfunctional Endosomes are Early Sign of Neurodegeneration

April 11, 2016

…degeneration of neurons in Alzheimer’s disease (AD) and Down syndrome (DS).

Study: Time-Restricted Eating Improves Cardiovascular Health for Firefighters

October 4, 2022

In a recent collaborative effort, physicians with UC San Diego Health and scientists at the Salk Institute reported a form of intermittent fasting, called time-restricted eating, improved the health of study participants who had been diagnosed with metabolic syndrome.

Two UC San Diego Researchers to Lead Alzheimer’s Disease Cooperative Study

June 25, 2015

…treat Alzheimer’s disease – William Mobley, MD, PhD, and Michael Rafii, MD, PhD – have been named interim co-directors of the Alzheimer’s Disease Cooperative Study (ADCS), a major initiative formed in 1991 as a cooperative agreement between the National Institute on Aging (NIA) and the University of California, San Diego.

Neurodevelopmental Model of Williams Syndrome Offers Insight into Human Social Brain

August 10, 2016

In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers at University of California San Diego, with colleagues at the Salk Institute for Biological Studies and elsewhere, have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into…

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.

Bioengineering, Bioinformatics Graduate Students Selected as Siebel Scholars

September 22, 2022

Five UC San Diego bioengineering and bioinformatics graduate students have been honored as 2023 Siebel Scholars. The Siebel Scholars program recognizes the most talented students in the world’s leading graduate schools of business, computer science, bioengineering and energy science.

Brain Trauma Raises Risk of Later PTSD in Active-Duty Marines

December 11, 2013

In a novel study of U.S. Marines investigating the association between traumatic brain injury and the risk of post-traumatic stress disorder over time, a team of scientists led by researchers from the Veterans Affairs San Diego Healthcare System and University of California, San Diego School of Medicine report that TBIs…

Novel Stem Cell-Derived Model Created of Inflammatory Neurological Disorder

August 10, 2017

…rare, but devastating, inherited neurological autoimmune condition called Aicardi-Goutieres Syndrome (AGS). In doing so, the team was able to identify unusual and surprising underlying genetic mechanisms that drive AGS and test strategies to inhibit the condition using existing drugs.

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