By Sharon Atieno

Twenty one scientists have been awarded in a global competition that offers rare disease researchers, grants of the latest life science innovations and technologies.

With rare diseases affecting more than 300 million worldwide and only five percent of the known 7,000 rare diseases having treatment available; the Helping Empower and Accelerate Research Discoveries (BeHEARD) Rare Disease Science Challenge allows companies to contribute their technology to make a difference in this area.

“This year the competition received submissions on 27 rare diseases, coming from universities and foundations located in thirteen different countries,” said Danielle Fumagalli, BeHEARD Director in a statement.

“Twenty-one cutting-edge technology prizes were awarded to study a number of rare diseases globally.”

The winning scientists from the initiative by Rare Genomics Institute, will use their awards to yield key medical research insights on rare diseases that can lead to new treatments for patients.
Two examples are a mouse model, sponsored by Taconic Biosciences, and a TurboKnockout® mouse model vector construction, sponsored by Cyagen Biosciences, that were awarded to Prof. Puneet Opal at Northwestern University.

According to the press statement, these technology grants will allow his lab to test therapy options for Giant Axonal Neuropathy, a severe neurological disorder which begins in early childhood and causes progressively worsening balance issues, muscle weakness, seizures, paralysis, and dementia. Most sufferers become bedridden by early adulthood and die in their twenties.

Prof. Opal will use the awarded mouse model and vector construction to test whether administering a replacement version of the defective protein that causes Giant Axonal Neuropathy can stop or reverse the disease.

Other winners were awarded vector constructions from Cyagen Biosciences, PCR design and analysis software from DNA Software, reagents from Addgene, and antibodies, proteins, and peptides from Bio-Techne.

“These technologies will be put to good use to make progress on therapies for rare diseases, ranging from the FOXG1 Research Foundation’s study of FOXG1 Syndrome, a severe brain disease that causes seizures and lack of body control, to the Jansen’s Foundation’s research on Jansen’s metaphyseal chondrodysplasia (JMC), a skeletal disease that causes short stature, bowed legs, and joint deformities,” the statement reads.