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.
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.
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.
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.
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…
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.
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.
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…
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.
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).
