Voting for the $10,000 prize is over. Congratulations to Qiang Chang, who is studying Rett Syndrome! More info to follow soon. Thank you to all finalists and applicants to the Rare Disease Science Challenge and best of luck in your research.
Assay Depot and Rare Genomics Institute is pleased to announce the winners for the 20 research service prizes in the Rare Disease Science Challenge: Be HEARD. Nineteen generous life science companies donated 20 services, valued at ~$500,000, to promote rare disease research. We would like to thank all the sponsors for their help and wish all research projects to have great success.
Platinum (prizes worth between $25,000 and $75,000):
| Service | Donor | Winner | Rare Disease |
| Custom mouse model | Taconic | Jill Wood | Sanfilippo Syndrome |
| Clinical Development Consulting | Charles River Laboratories | To be announced | |
| Genome Analysis Software | Ingenuity Systems | Multiple Winners!* | |
| Primer design | DNA Software | Beth Drolet & Dawn Siegel | Infantile Hemangiomas |
Gold (prizes worth between $10,000 and $25,000):
| Service | Donor | Winner | Rare Disease |
| Custom Zinc Finger Nuclease | Sigma Life Science | Vinicio de Jesus Perez | Idiopathic Pulmonary Arterial Hypertension |
| Expression analysis | Genemarkers | Lori Silveira | Chronic Beryllium Disease |
| Assay development | Cisbio Bioassays | Allison Moore | Charcot-Marie-Tooth1A |
| Data collaboration software | Collaborative Drug Discovery | Jill Wood | Sanfilippo Syndrome |
| NGS Analysis | Novocraft Technologies | Jason Chen | Progressive Supranuclear Palsy |
| Bioinformatics software | BioDiscovery | George Carlson | Fatal Familial Insomnia |
| Bioinformatics Consulting | BioVariance | Lori Sames | Giant Axonal Neuropathy |
| TAQ Reagents | Sigma Life Science | Heather C Etchevers | Congenital Melanocytic Nevi |
| Stefan Stamm | Prader-Willi Syndrome |
Silver (prizes worth between $5,000 and $10,000):
| Service | Donor | Winner | Rare Disease |
| Sequencing services | Otogenetics | Joan C Marini | Osteogenesis Imperfecta |
| Chromosome methylation assays | Karyologic | Shannon Muir | Rhabdomyosarcoma |
| Compound synthesis | Apertus Pharmaceuticals | Allison Moore | Charcot-Marie-Tooth1A |
| Plasmid acquisition | Addgene | Karen McFarland | Spinocerebellar Ataxia type 10 |
| Chemistry consulting | SARmont | Allison Moore | Charcot-Marie-Tooth1A |
Bronze (prizes worth between $2,500 and $5,000):
| Custom antibodies | Antibodies Inc | Ben Philpot | Angelman Syndrome and dup15q |
| Rare disease consulting | Three Pillars Biotechnology | Ann Nordgren | Osteoporosis and Osteogenesis Imperfecta |
*Ingenuity System prizes:
Ingenuity Systems has opted to award a prize to each applicant for its services. They are awarding a number of samples of Ingenuity Variant Analysis and iReports to these researchers.
| Donor | Winner | Rare Disease |
| Ingenuity Systems | Alireza Baradaran-Heravi | Schimke Immuno-osseous Dysplasia (SIOD |
| Ingenuity Systems | Andrew Grierson | Leukodystrophy |
| Ingenuity Systems | Beth Drolet & Dawn Siegel | Infantile Hemangiomas |
| Ingenuity Systems | Christina Chao | Fatal Familial Insomnia |
| Ingenuity Systems | Guoping Fan | X-linked Intellectual Disability |
| Ingenuity Systems | James A Gallagher | Alkaptonuria |
| Ingenuity Systems | Jason Chen | Progressive Supranuclear Palsy |
| Ingenuity Systems | Natini Jinawath | Cholangiocarcinomas |
| Ingenuity Systems | Renee Sears | Fahr’s Disease |
| Ingenuity Systems | Sharon R Weil-Chalker | Angelman Syndrome |
| Ingenuity Systems | Stephen Sturley | Niemann Pick Disease |
| Ingenuity Systems | Svjetlana Lovric | Childhood Steroid-Resistant Nephrotic Syndrome |
| Ingenuity Systems | Yaron Butterfield | Medulloblastoma |
