Los Angeles C.A., February 28, 2019 – Rare Genomics Institute (RG) today announced a partnership with Dante Labs, an Italy and US-based diagnostic laboratory. RG is an international non-profit that gives rare disease patients access to state-of-the-art genomics sequencing technology, connections to scientists and researchers and philanthropic opportunities. Dante Labs is a genetic testing company specialized on whole genome sequencing and rare diseases. Through this partnership, Dante Labs has agreed to provide pro-bono Whole Genome Sequencing to select patients from Rare Genomics. Their test called, Whole Genome Sequencing (Full DNA Analysis), analyzes 100% of the DNA and provides personalized reports based on the patient’s medical history and symptoms.Read More
ANN ARBOR, MICHIGAN – October 16, 2018 - Genomenon announced today that they will donate Mastermind Genomic Search Engine licenses to the entire team of clinical scientists at Rare Genomics Institute to accelerate their work for patients with rare diseases.
Rare Genomics Institute (RG) is a nonprofit (EIN: 45-3624709) organization that has been at the forefront of providing direct support to undiagnosed rare disease patients and their families since 2011. RG helps patients find a diagnosis, treatment, and cure by connecting them to expert scientists and biomedical researchers who have access to the most advanced technologies to diagnose and accelerate research.Read More
The Rare Genomics Institute (RG) is delighted to announce the winners of the 2018 BeHEARD (Helping Empower and Accelerate Research Discoveries) Rare Disease Science Challenge, a global competition that offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. This unique crowdsourced biotechnology competition allows companies to contribute their technology to make a difference for the rare disease community.Read More
Washington, D.C. June 21, 2017. The Rare Genomics (RG) Institute is delighted to announce the winners of the 2017 BeHEARD (Helping Empower and Accelerate Research Discoveries) science challenge, a global competition that offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. This unique crowdsourced biotechnology competition allows companies to contribute their technology to make a difference for the rare disease community.
“This year alone, the competition received hundreds of outstanding quality submissions on 84 rare diseases, coming from 94 universities and foundations located in 20 different countries", said Danielle Fumagalli, BeHEARD Director. “Over $750,000 worth of cutting-edge technologies were awarded to study 23 rare diseases globally.”
Rare diseases affect more than 300 million worldwide, yet less than five percent of the 7,000 known rare diseases have treatments available. The winning scientists from BeHEARD 2017 will use their awards to potentially yield key medical research insights on rare diseases and have profound impact on therapeutic developments for patients.
One example is a mouse model, sponsored by Taconic Biosciences, that was awarded to Dr. Teresa Luperchio at Johns Hopkins University. This technology grant will allow her lab to test therapy options for a subtype of Kabuki syndrome, a rare disease characterized by facial deformities, growth deficiency, and intellectual disabilities. There are currently no effective treatments, and testing in the Taconic mouse model will be one of the last steps before the first-ever clinical trials for a treatment.
Winners of previous BeHEARD contests have already used the technologies to make novel discoveries. Dr. Roser Urreizti of the University of Barcelona was awarded genetic sequencing services in last year’s BeHEARD competition for her work on Opitz C Syndrome, a condition in which the skull is a triangular shape and patients suffer from mental retardation and loss of muscle tone. Using the technology, Dr. Urreizti says, “We have identified the disease-causing mutation. We have already started functional studies for every one of the genes associated with the diseases. None of them had been previously associated with Opitz C syndrome. We hope we will be able to test therapeutic approaches (molecular chaperones) in one year. We have started a collaboration to test selected FDA approved drugs on a patient's cells in a search for therapies once the functional studies confirm the relation between the mutation and the disease.”
In the 2018 BeHEARD Challenge, in addition to BeHEARD’s usual competition open to all rare disease proposals, Rare Genomics will collaborate with the INADcure Foundation to support the development of treatments for INAD (Infantile Neuroaxonal Dystrophy) by awarding $100,000 in INAD Discovery Grants specifically for research on the disease.
INAD is a storage disorder where accumulation of lipids in nerve endings causes progressive damage. The symptoms of INAD usually start to appear between the ages of 6 months and 2 years. A common pattern in young children is the steady loss of previously acquired skills, and mental and physical ability. Most children with INAD do not survive beyond the age of ten, and there are currently no effective treatments for the disease, although there has been some promising initial research. “BeHEARD and INADcure hope that by offering the Discovery Grants, we may be able to increase research on INAD. INAD has good potential for treatments, but has had difficulty attracting research and funding due to the relatively low number of sufferers,” says Ms. Fumagalli.
“We want to congratulate the winners and thank everyone who participated: our sponsors, the reviewers, and all the applicants, and we invite everyone to participate again in our upcoming BeHEARD challenge,” noted Dr. Arvin Gouw, Rare Genomics Vice President for Research & Development. “We at INADcure foundation are thrilled to work with Rare Genomics on the next BeHEARD challenge focusing on Infantile Neuroaxonal Dystrophy,” said Leena Panwala, INADcure President and Founder.
A full list of 2017 BeHEARD winners can be found on the RG website: http://www.raregenomics.org/contest-updates
For more information about the BeHEARD challenge, please visit: http://www.raregenomics.org/beheard-competition/
2016/2017 BeHEARD Technology Sponsors: Taconic Biosciences Biovista The Jackson Laboratory Cyagen DNA Software Collaborative Drug Discovery Addgene SnapGene Charles River
More information on INADcure Foundation: http://inadcure.org/
About the Rare Genomics Institute Rare Genomics is an international 501(c) 3 non-profit that makes cutting edge research technologies of genome sequencing, physicians and scientists around the world accessible to rare disease patients. Rare Genomics helps families source, design and fund personalized research projects for diseases not otherwise studied helping rare disease patients find hope for a cure. By providing an expert network and an online crowdfunding mechanism Rare Genomics works alongside patients and their families, providing them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease.
For further information on Rare Genomics, please visit http://www.raregenomics.org.
Rare Genomics Institute (RG) and the Organization for Rare Diseases India (ORDI) announced today that they are one of the recipients of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. RG and ORDI have won financial support for the development and dissemination of specialized Rare Disease online training modules.Read More
The Rare Genomics Institute (RG) has announced a new division – Rare Genomics Task Force (RGTF). It will be tasked with providing scientific information and support for patients with rare diseases. These efforts include but are not limited to conducting research reviews, writing reports for patients, identifying renowned experts who can help with projects, and connecting experts with rare disease patients. RGTF recently started a free and publicly accessible platform that is currently running through email communication.Read More
The Rare Genomics Institute (RG) announces the BeHEARD (Helping Empower and Accelerate Research Discoveries) Initiative, an annual rare disease science challenge providing technology grants for rare disease research. The RG-hosted contest is aimed at accelerating rare disease research and offering new options for millions of patients suffering from ailments that lack effective treatments.Read More
Washington, D.C, December 1, 2015 - Rare Genomics Institute (RG) has announced today it will join #GivingTuesday, a global day of giving that harnesses the collective power of individuals, communities and organizations to encourage philanthropy and to celebrate generosity worldwide. The international nonprofit organization will use the raised funds to help people affected by rare disorders - helping them connect with research, diagnoses, and treatments.Read More
RG Press Release: New Research Study Establishes 30 Day Crowdfunding Bootcamp for Rare Diseases.
Rare Genomics Institute (RG) today announced a 30-day Crowdfunding Bootcamp to help rare disease patients raise funds for high-end exome sequencing to pinpoint the cause of their disease and map possible treatments.Read More