Tian Xu 

(mentioned first)

Linda Avey 

(mentioned in middle)

Margaret Pericak-Vance

(last one mentioned)


      His innovation includes producing a million mutant mice in the Yale-Fudan facility in China to come up with 100,000 new strains of mice, each with a disrupted gene or genetic element. He plans to test and observe the mutated mice and see what each genetic bond affects if anything at all. He plans to then create a Mouse gene map showing what certain genes do to the mouse. Each mouse in the experiment he says will have 1 defective or disabled gene so he can see what each gene does during the course of the experiment. By systematically mutating every gene and screening the mice for defects, Xu plans to identify the genes responsible for most diseases. He also says, “If you know the genetic basis of these diseases in mice, you can go up stream to humans and verify, then you have a diagnostic base and the animal model and target for studying disease mechanisms and for developing therapeutics.”


      “We want to democratize research, to make people a part of the process, to give them a voice, as well as giving them access to their data.” Avey says. Her company’s goal is to take the information from all the lab and have it be accessible for an average user to view and understand. It sequences your individual gene sequence and then they display the results and information in layman’s terms for the person to actually understand. This method of posting it online rather than having a hand out also lets the data be modified if something in the research end is discovered after the patient views the original data posted.  The overall goal is to lower the cost of having your genes sequenced and then see if you will be at risk for major diseases or have doctors be able to better diagnose by eliminating genetic diseases you do not have.


       She has been a leader in deciphering the genetic basis for numerous genetic disorders since publishing the first comprehensive gene mapping study for Huntington disease. Her work on studying genetic causes of Alzheimer’s had he work published in 1993 in Science Magazine. Her accomplishments include the discovery of the genetic defects included in Lou Gehrig’s disease, Alzheimer disease, autism, and age-related macular degeneration and all of these discoveries have shown the complexities of these fairly common diseases.