All the latest news from the team at Rare Genomics Institute including patient success stories, research, events and more.
Before the age of two, Viktor Pataki’s parents discovered there was something wrong with their son. His young life was just beginning and they were desperate for answers.
Doctors discovered that Viktor had a rare form of cancer called Langerhans Cell Histiocytosis (LCH).
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In September, I made my first trip out to the West Coast for my first ever rare disease conference--the Global Genes Patient Advocacy Summit. This conference is the largest gathering of rare disease stakeholders in the world, and it’s an opportunity to meet new people, make connections, and learn from the experts.
Through Jane I learned about a new rare disease, CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In layman’s terms, CADASIL is a genetically inherited disease where just one defective NOTCH3 gene copy on chromosome 19 (from mom or dad) is enough to cause the small blood vessel walls within the white matter of the brain to thicken, making blood circulation more challenging. Eventually, the poor blood flow can lead to a total blockage that triggers a stroke. This results in brain lesions of dead tissue that are responsible for the subsequent cognitive deficits that ultimately lead to dementia.
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It’s been 16 years since the first human genome was sequenced. That undertaking took almost 15 years, cost billions of dollars, and revolutionized genetic research. Since then, new sequencing technologies have led to lower sequencing costs and quicker turnaround times. Sequencing a genome today takes weeks rather than years and costs thousands, not billions.
LOS ANGELES, CA; February 28, 2019 -- Rare Genomics Institute, a nonprofit providing direct support to undiagnosed rare disease patients, announced on Rare Disease Day that they were able to diagnose a previously undiagnosed patient with the use of the Mastermind® Genomic Search Engine, a clinical decision support tool by Genomenon®.
The Patient Research Services of the Rare Genomics Institute has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients pro-bono access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end.
Read MoreThe Scientist, May 2018 Issue | By Jim Daley | May 1, 2018 : Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.
It was a parent who first approached Romina Ortiz, the COO and vice president of patient advocacy at the Rare Genomics Institute (RGI), about crowdfunding. The mother of Maya Nieder, a developmentally disabled 4-year-old, was looking for a way to raise money for her daughter’s whole-exome sequencing, which reveals the intricacies of protein-coding genes (see “Answers in the Exome” here).
Ortiz had cofounded the nonprofit in 2011 to connect physicians, researchers, and rare-disease patients to laboratories that could conduct diagnostic genome sequencing, and to help scientists in those labs find funding. It wasn’t easy at first.
“We by no means were experts at raising funds, so we really wanted to see how else we could help our [patients’] families,” says Ortiz.
In 2012, the RGI managed to raise $3,550 through crowdfunding to sequence Nieder’s exome. The genetic results revealed that the child had a mutation in a single gene that researchers thought was responsible for her disorder. The finding was the first example of a crowdfunded gene discovery.
Did you know?
An estimated 250 million people worldwide are suffering from a rare disease.
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Disclaimer: RG connects patients to research institutions and assists with logistics and fundraising, but we cannot provide medical advice. Please consult your physician if you have any medical questions or call 911 in an emergency situation.
