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Your search for “rare diseases” returned 217 results

Scientists Receive $4.8M to Pursue Gene Therapy for ‘Incurable’ Disease

December 1, 2022

The California Institute for Regenerative Medicine has awarded UC San Diego researchers $4.8 million to advance a gene therapy to treat Friedreich’s ataxia, a rare but devastating neuromuscular disorder.

UC San Diego Researchers Awarded $889,000 for Cystinosis Studies

August 27, 2013

…cure for cystinosis. A rare and deadly genetic disease, cystinosis affects about 500 children and young adults in the United States and 2,000 worldwide. The most recent grants bring the total funding from CRF to UC San Diego School of Medicine researchers to more than $5.5 million since 2003.

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.

Target Identified For Rare Inherited Neurological Disease In Men

August 10, 2014

Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility.

Patient Advocates and Big Pharma Fund Nation’s First Angioedema Treatment Center

February 5, 2015

…endow center to treat rare hereditary swelling disease Pictured at the grand opening of the US HAEA Hereditary Angioedema Center at UC San Diego are (left to right): Paul Viviano, UC San Diego Health System CEO; Dr. Marc Riedl, Center Clinical Director; Dr. Bruce Zuraw, Center Director; Anthony Castaldo, US…

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.

Albert La Spada Receives Harrington Scholar Award to Combat Neurodegenerative Disease

September 21, 2015

…a therapy for Spinocerebellar ataxia type 7 (SCA7), a rare but devastating neurological disorder that can lead to blindness and progressive loss of physical coordination.

Largest Study of its Kind Finds Rare Genetic Variations Linked to Schizophrenia

November 22, 2016

…increase schizophrenia risk are rare, making it difficult to study their role. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan Sebat, PhD, at University of California San Diego School of Medicine, analyzed the genomes of more than 41,000 people in the largest study of its…

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.

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).

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