This article just published in the Wall Street Journal highlights how online experts and sometimes donated resources let families of all means to launch their own initiatives when it comes to finding a treatment for rare disease.
At the Hugh Kaul Personalized Medicine Institute at the University of Alabama at Birmingham School of Medicine, director Matt Might says one main task is to create a menu with a range of services to help families and patients advance research. Dr. Might draws on his experience helping his son, who has a rare genetic condition, NGLY1 deficiency, a neurological syndrome caused by mutations in the NGLY1 gene.
He says parents often think they need to pursue everything at once, and may not always realize there are less expensive research options. For example, for some people with mutations in genes that are also found in less-complex organisms such as yeast, it is far cheaper to screen potential drugs that way than develop a mouse model; a yeast screen can be done for under $10,000, Dr. Might says.