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Genetics

Rare disease leaders to speak at inaugural symposium and family conference on March 11

March 8, 2022

dad had daughter on his shoulders and they look into the bright sky

The Inaugural CHOC and UCI Rare Disease Symposium & Family Conference will take place on Friday, March 11, 2022, from 10:30 a.m. to 3 p.m.

Related Topics
Genetics Rare Disease Dr. Jose Abdenur CHOC CHOC and UC Irvine CHOC Grand Rounds Events Innovation Research

Metabolic disorder families increasingly turning to CHOC for historic gene therapy treatments

November 16, 2021

Families with kids who have rare metabolic disorders are coming from all over the U.S. for investigational gene therapy treatments at CHOC.

Related Topics
Genetics Rare Disease Dr. Joffre Olaya Dr. Jose Abdenur Dr. Raymond Wang Dr. Richard Chang Research

Rapid Whole Genome Sequencing continues to provide answers and hope for parents of critically ill children with rare diseases

May 25, 2021

CHOC has ordered cutting-edge tests of rapid whole-genome sequencing (rWGS) on 150 patients, with 76 of them getting a precise diagnosis.

Related Topics
Genetics Healthcare Rare Disease Dr. Adam Schwarz Dr. Jason Knight Dr. John Cleary Dr. Juliette Hunt Dr. Neda Zadeh Dr. Nick Anas Dr. Richard Chang CHOC Specialists Popular Research

CHOC rare disease expert stresses importance of newborn screening

September 9, 2020

CHOC is one of the state’s largest referral centers for the newborn screening program, which checks babies for many serious genetic disorders.

Related Topics
Genetics Healthcare Metabolics Rare Disease Dr. Jose Abdenur CHOC Specialists Research

CHOC performs first in-human gene therapy dosing for MPS I

November 14, 2019

CHOC clinicians recently administered the first ever in-human dosing of gene therapy for Hurler Syndrome, a rare lysosomal storage disease.

Related Topics
Genetics Healthcare Rare Disease Dr. Raymond Wang Dr. Tammam Beydoun CHOC Specialists Popular Research

Journey to a rare diagnosis: Colten’s story

November 12, 2019

A CHOC PICU nurse tells the story of her son, Colten, who received a rare Alström Syndrome diagnosis with the help of specialists at CHOC.

Related Topics
Genetics Healthcare Rare Disease Dr. Anthony Chang Dr. Lauren Dwinell Dr. Neda Zadeh CHOC Specialists Innovation Patient Stories Popular Research
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These articles are not intended to replace the relationship you have with a physician or another healthcare practitioner. For specific medical advice, diagnoses and treatment, please consult your doctor. This website may include links to other websites which provide additional information that is consistent with the intended purpose of this publication. Linking to a non-CHOC site does not constitute an endorsement by CHOC of the sponsors or the information and products presented on the site.