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Your search for “rare diseases” returned 216 results

Genetic Variations that Boost PKC Enzyme Contribute to Alzheimer’s Disease

May 10, 2016

In Alzheimer’s disease, plaques of amyloid beta protein accumulate in the brain, damaging connections between neurons. Now, researchers at University of California San Diego School of Medicine and Harvard Medical School have found that the enzyme Protein Kinase C (PKC) alpha is necessary for amyloid beta to damage neuronal connections.…

Study Uncovers Metabolic Cause for Rare Eye Disease

September 11, 2019

An international team of researchers has discovered a cause for a rare eye disease affecting the macula that leads to loss of central vision, called macular telangiectasia type 2 (MacTel).

Broad Spectrum of Autism Depends on Spectrum of Genetic Factors

June 2, 2022

UC San Diego researchers report significant progress in understanding how the combined effects of rare mutations and common genetic variation in determining whether a child will develop ASD and its consequential effects.

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 Chancellor’s Medal and Lifetime Legacy Award Recipients Announced

November 28, 2023

The University of California San Diego announced the recipients of the 2023 Chancellor’s Medal and the Lifetime Legacy Award, who have all helped advance health care and medicine in unique, impactful ways.

Artificial Intelligence Catalyzes Gene Activation Research and Uncovers Rare DNA Sequences

May 18, 2023

Biologists have used machine learning, a type of AI, to identify “synthetic extreme” DNA sequences with specifically designed functions in gene activation. They tested 50 million DNA sequences and found synthetic DNA sequences with activities that could be useful in biotechnology and medicine.

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…

Genomic Study Revealing Among Diverse Populations with Inherited Retinal Disease

October 19, 2021

An international team of researchers has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.

Study Shows Certain Gastrointestinal Tumors Associated with Higher Mortality

April 5, 2016

Researchers at University of California, San Diego School of Medicine have determined that certain gastrointestinal stromal tumors (GISTs) are more deadly than previously reported in medical literature. Findings are published online in the Journal of Gastrointestinal Surgery.

UC San Diego Health Physicians Top the List

October 2, 2023

More than 100 UC San Diego Health Physicians named “Top Docs” in annual survey.

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