The devastating disease took the lives of legendary Notre Dame football coach Ara Parseghian's three grandchildren, and about 500 children in the U.S. currently have the genetic neurodegenerative condition. The university could be considered the nerve center for study of NPC; it's the main focus of Notre Dame's Center for Rare and Neglected Diseases.
"We like to think we fight for the underdog," says Crawford, Notre Dame College of Science dean. "The rare diseases are tough, because it's hard for a pharmaceutical company to work in these areas where there are just a few hundred or 1,000 patients. Somebody has to pick those things up." Listen
NPC disease primarily strikes children, and causes death before or during adolescence, because it prevents a child's body from properly processing cholesterol.
"It starts with issues in the spleen and liver. It ends up making its way to the brain, so you have neurodegenerative damage," says Crawford. "You have trouble with movements, walking, and etcetera. Often times, at the very end, they're in a wheelchair and have a feeding tube, because they can no longer swallow, they can't walk or talk. It's just an awful disease and tough on the family."
Notre Dame's research involves a medicinal chemistry approach to potentially create a drug that can target the disease. The university also conducts basic studies on how cholesterol moves and builds up within cells. Listen
"Even though it's a rare disease, there may be many other disease platforms that can benefit from the research," says Crawford. "Something we may find in studying how this cholesterol builds up in NPC disease could be just as useful for studying high cholesterol or Alzheimer's—where we believe there's a connection."
Crawford says research has "come a long way" since the Parseghian children were diagnosed in 1994, when scientists knew virtually nothing about the disease. A drug currently on the market helps keep children healthier and slightly prolongs their lives, and another drug is in human clinical trials, but finding a cure remains the focus.
"When I came here [in 2008] as dean and a physicist, I didn't have much I could do in terms of research, but I wanted to contribute in some way," says Crawford. "I love biking, so I think [the rides] are a great way to bring awareness, raise funding along the way and meet with Notre Dame clubs and families of Niemann-Pick. It gives me a way to contribute that otherwise I couldn't do." Listen
Crawford hopes his coast-to-coast "Road to Discovery" ride, which he's documenting on his blog, will raise more than $100,000; he has completed two shorter rides in previous summers that raised similar amounts. This 3,250-mile route began in Boston on May 21 and—averaging about 100 miles each day with no days off—will end June 22 at Pebble Beach Resorts, where Notre Dame and the Ara Parseghian Medical Research Foundation are hosting a golf fundraiser. Similar to previous rides, he'll meet with families affected by NPC disease along the route, where he sees children in various stages of their battle.
"It keeps you going, but it's just hard seeing the kids because it's so debilitating," says Crawford. "What I think is phenomenal is the families–I'm always inspired by the families. Despite what they're going through, they just keep at it and there's always hope—they're always trying to raise money in the communities."
Beyond completing the ride and raising money, Crawford hopes to call attention to the school's Center for Rare and Neglected Diseases and the dedicated faculty searching for a cure—a victory that would be far greater than the two national football titles Ara Parseghian captured for Notre Dame.
"It's always great and fun to win a national football championship," says Crawford, "but if you're a scientist working on this, finding a cure to this horrible disease that has affected our family so badly—that would be our national championship."