Finding Answers for Undiagnosed Patients with Rare Genetic Diseases
RARECAST PODCAST: RARECAST spoke to Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, about the institute’s collaboration with Pacific Biosciences, how long-read sequencing differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.
A childhood of daily seizures. A medicine created just for her son. Will it work?
San Diego nonprofit n-Lorem plans to treat patients with rare genetic diseases for free, and for life. It’s an approach some, like RCIGM CEO Stephen Kingsmore, say could revolutionize medicine — if it can be scaled.
Nicklaus Children’s Hospital ‘Project Baby Manatee’: Advanced Genomics Cuts Diagnostic Delays & Costs
When a child is born with symptoms so rare that they confound doctors, or an older child develops an acute medical condition few health care professionals have treated before, it can cause needless suffering for the child and tremendous anxiety or depression for parents powerless to help.
Genome Giants: Stephen F. Kingsmore – President and CEO of Rady Children’s Institute for Genomic Medicine
Frontline Genomics interviewed RCIGM founder, Stephen Kingsmore, as part of their Genome Giants series, which explores the lives and motivations of some of the most influential figures within the genomics field.
Human Sperm Mutations that can Cause Disease in Children Identified
Researchers find that one in 15 men are likely to carry mutations that could adversely affect their offspring Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have different DNA sequences or genetic makeup. Mosaicism […]
Rady Children’s and Takeda Partner to Develop Treatments for Rare Genetic Diseases
“While we’ve made great progress in diagnosing rare genetic diseases for critically ill newborns and children, only an estimated 10% of childhood genetic diseases currently have effective treatments,” Stephen Kingsmore, president and CEO of the Rady Institute for Genomic Medicine, told Clinical Omics. “The collaboration with Takeda is our Institute’s first effort focused on ending the […]
RCIGM Announces Research Collaboration with Takeda to Advance the Development of Novel Rare Genetic Disease Therapies
A new research collaboration between Rady Children’s Institute for Genomic Medicine (RCIGM) and Takeda Pharmaceutical Company Limited (“Takeda”) aims to accelerate the discovery and development of new treatments for rare childhood-onset diseases by analyzing the natural progression of selected genetic disorders from genome-phenome datasets.
Pacific Biosciences and RCIGM Announce its First Collaboration for Whole Genome Sequencing Research
HiFi Sequencing will be used on a cohort of rare disease cases with the aim to identify numerous variants, both small and structural, that are not readily detectable by short-read sequencing Pacific Biosciences of California, Inc. (Nasdaq: PACB)(“Pacific Biosciences” or “PacBio”), a leading provider of high-quality, long-read sequencing platforms, and Rady Children’s Institute for Genomic […]
Rapid Genetic Testing May Have Spared This Baby From Death
For an infant with seizures, every passing hour risks more harm to the newborn’s brain. That’s why this story from Rady Children’s Hospital in San Diego is so inspiring, not just for parents and their children, but for doctors and geneticists.
Rady Children’s Hospital Study Shows Rapid WGS for Critically Ill Babies Leads to Better Health Outcomes and Lower Medical Costs
Results from California’s Project Baby Bear The evidence is in—a state-funded Rapid Precision Medicine program led by Rady Children’s Hospital-San Diego yielded life-changing outcomes for critically ill infants at five California hospitals while significantly reducing health care costs.