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Your search for “Rare Diseases” returned 232 results

The Eyes Have It

November 20, 2018

Researchers at University of California San Diego School of Medicine with colleagues at the National Institutes of Health and UC San Francisco report finding infectious agent in the eyes of deceased sCJD patients, making the eye a potential source for early CJD detection and prevention of disease.

Study Looks for DNA Changes to Measure Parkinson’s Disease

February 4, 2019

Researchers at UC San Diego and Arizona State University have received $1.7 million in funding from The Michael J. Fox Foundation for Parkinson’s Research to launch a multi-year effort to identify blood-based biomarkers of Parkinson’s disease, which could improve care and accelerate new treatments.

UC San Diego Launches Gene Therapy Initiative, Targeting Treatments for Rare Diseases

August 29, 2023

A $5 million gift from the Nancy and Geoffrey Stack Foundation has established the UC San Diego Gene Therapy Initiative to find novel therapies for children and adults with 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.

Domino Liver Transplant Treats Two Rare Diseases, World First

September 21, 2011

For the first time ever, a surgical team led by Alan Hemming, MD, has successfully performed a domino transplant using a liver with a rare genetic disorder called methylmalonic acidemia (MMA).

Drug Suppresses Spread of Breast Cancer Caused by Stem-like Cells

December 11, 2017

Rare stem-like tumor cells play a critical role in the spread of breast cancer, but a vulnerability in the pathway that powers them offers a strategy to target these cells using existing drugs before metastatic disease occurs, report University of California San Diego School of Medicine and Moores Cancer Center…

UC San Diego Researchers Receive Funding to Pursue Novel Stem Cell-based Treatments

July 20, 2018

…of Medicine researchers investigating stem cell-based therapies for a rare genetic disorder that affects the heart and a chronic, progressive affliction of the lungs.

Researchers Induce Alzheimer’s Neurons From Pluripotent Stem Cells

January 25, 2012

Led by researchers at the University of California, San Diego School of Medicine, scientists have, for the first time, created stem cell-derived, in vitro models of sporadic and hereditary Alzheimer’s disease (AD), using induced pluripotent stem cells from patients with the much-dreaded neurodegenerative disorder.

Targeting Molecular Pathway that Causes Pulmonary Arterial Hypertension

May 6, 2022

UC San Diego researchers describe the underlying signaling pathway that results in pulmonary arterial hypertension and a novel monoclonal antibody therapy that blocks the abnormal blood vessel formation characterizing the disease.

Hope for Our Zebra

May 1, 2023

When alumni Michaelle Jinette and Kevin Witt’s fourth son Tristan was diagnosed with the rare KCNH1 genetic mutation, the couple raised money, collaborated with scientific partners, and initiated rare disease research on behalf of their child and the 50 others like him in the world.

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