CATEGORIES: Research

Assay Depot And Rare Genomics Institute Award Prizes To Study 26 Rare Diseases

by | Apr 1, 2013 | 0 comments

Assay Depot And Rare Genomics Institute Award Prizes To Study 26 Rare Diseases

More Than $500,000 Worth of Services, Reagents, and Prize Money

rare-disease-banner-11[1]

SAN DIEGO and ST. LOUIS, Feb. 28, 2013 /PRNewswire/ — In recognition of Rare Disease Day, Assay Depot and Rare Genomics Institute (RGI) today announced the winners of the first ever Rare Disease Science Challenge: BeHEARD (Helping Empower and Accelerate Research Discoveries). In total, more than $500,000 worth of research services will be awarded to study 26 different rare diseases, ranging from Alkaptonuria to X-linked intellectual disability (XLID). In addition, 10 finalists have been selected for a $10,000 cash prize and the final winner will be determined by online public voting.

“Despite a significant public need, rare diseases are often overlooked,” said Jimmy Lin, President of the Rare Genomics Institute. “We join in the global celebration of Rare Disease Day by raising awareness and providing some much needed resources to support some of the most innovative work in the area of rare diseases.”

Rare diseases affect more than 25 million Americans, yet less than five percent of the 7,000 known rare diseases have treatments available. The BeHEARD Challenge encourages non-profits, academic researchers, rare disease advocacy groups, families of rare disease patients and for-profit companies to collaborate in their collective mission to advance rare disease research.

The awards include: creating a mouse model to study Sanfilippo Syndrome, which results in severe neurological deterioration in children; providing DNA sequencing to discover new genes that cause Osteogenesis imperfecta; providing tools and reagents to discover new drugs for Charcot-Marie-Tooth, which results in nerve degeneration and muscle loss.

“Our mission is to empower scientists and the rare disease community, and break down the longstanding barriers to conducting drug discovery research,” said Kevin Lustig , CEO of Assay Depot and platinum sponsor of BeHEARD. “This competition furthers that mission by advancing the fundamentals of the open science movement, which is the key to innovation and will be a large part of the industry’s future.”

About Rare Genomics Institute

RGI is a non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. By providing an expert network and an online crowdfunding mechanism, RGI helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RGI aims to expand on its current genome sequencing-focused approach to enable community funding to support whatever type of research is necessary to get closer to rare disease therapeutics. For more information, visit: http://raregenomics.org.

About Assay Depot

Assay Depot is the world’s leading provider of outsourced scientific services. The company operates a network of online research marketplaces that dramatically streamline purchases between scientists and 8,000+ global research vendors. Assay Depot is changing the way life science research is done.

Contact: Maria Thompson (619) 733-5405 [email protected]

SOURCE  Assay Depot
RELATED LINKS http://www.assaydepot.com

Learn more on this topic

Related Blog Posts

Hot Off the Press – Potential Treatment for CMT1A

Two recent publications from Pharnext describe a novel synergistic combination of 3 drugs (baclofen, naltrexone and sorbitol) and its effect on CMT1A both in the lab and in a phase II clinical trial. These 3 drugs already approved but for unrelated conditions, are combined at new optimal lower doses and under a new formulation. This novel potential therapeutic is called PXT-3003.

Support CMT Therapeutic Alliance

HNF has entered into a joint venture – the CMT Therapeutic Alliance – with a unique non profit organization (BioPontis Alliance for Rare Diseases) that brings professional drug discovery capabilities to translate our research results into potential treatments.

Sneak Peak of Fall Newsletter: CMT Research Study Survey

My name is Elizabeth Francisco and I am a graduate student from the Genetic Counseling program at the University of North Carolina Greensboro. I am inviting you to participate in a research study. The goal of my study is to learn more about the experiences of people with Charcot-Marie-Tooth (CMT) with genetic counseling and genetic testing. Adults with CMT and parents or legal guardians of someone of any age who has a diagnosis of CMT are eligible to participate

Building Awareness on CMT and Supporting the Patient Community – HNF Announces Support from Pharnext

HNFpharnext recently entered into a partnership with the French biopharmaceutical company, Pharnext, to help raise awareness of Charcot-Marie-Tooth (CMT) disease and support the CMT patient community through several initiatives. Building awareness is key! Pharnext’s support will assist HNF in distributing HNF’s CMT Update quarterly newsletter, enhancing the Global Registry for Inherited Neuropathies (GRIN), setting up activities for CMT September Awareness Month in the US and strengthening the CMT Inspire Community.

Quality of Life and CMT Research

Did you know that 95% of clinical trials fail? There are multiple causes, most related to efficacy or safety, which obviously can be harmful and risky for patients. The risk-reward of enrolling in trials is a judgment call based on the devastating effects of disease related to quality of life (QoL) or life-threatening disease. With CMT, the risk-reward is more of a challenging question for many, as CMT in most cases is non-fatal.

Help us answer questions that your doctors and the CMT Research Community aren’t too sure about.

Did you know that you can become part of a community in therapy development and further research for all forms of CMT and inherited neuropathies? The mission of the Global Registry for Inherited neuropathies (GRIN) is to collect clinical and genetic information from patients with ALL forms of Charcot-Marie-Tooth (CMT) and other related rare and ultra rare inherited neuropathies.

Hot off the press

It seems like almost weekly there is another new publication on CMT with interesting basic biology. While an earlier “Hot off the press” highlighted the work of Cherry and co-workers at the University of Texas Southwestern Medical Center who showed show that neurons lacking a gene for rab7 result in neuropathy.

New Study on CMT Type 2B

If we are to learn more about CMT and the effectiveness of rehabilitation it is worth asking the patient and their caregiver. A recent Italian study by Padua et al recently described a survey of CMT patients and caregivers and their perspectives and perceptions of rehabilitation efficacy and needs.

Join the conversation

Leave a Comment

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

Newsletter

Join for notifications on events, campaigns, & news