Day 21: Denver to Granby, CO

The day started off wonderful with an interview with KUSA/NBC and a visit to Marley Coffee in Denver.  Marley has been such a great supporter of our cause.  The company’s headquarters in Denver is the coolest headquarters ever. I was even asked to ride my bike through it.  It was great to meet the wonderful Marley employees. Thanks for all of your support.

Interview with Gary Shapiro at KUSA in Denver

Interview with Gary Shapiro at KUSA in Denver


Today’s journey was perhaps the roughest I have experienced in all five rides. It started off so well.  Jim, a recent Notre Dame graduate and captain of the Notre Dame Cycling Team last year, joined us for the first part of the ride to Estes Park. On the way, we climbed to 8,000 feet and then descended to about 7,000 feet.

Jim and Greg

The real feat was ahead of us as the next climb was to an elevation over 12,000 feet. It started to rain in Estes Park; at 8,000 feet, the hail started; at 9,000 feet, we had thunder and lightning, snow, and sleet. When the wetness finally stopped, the wind gusts picked up in unpredictable blasts. On top of all that, I was really feeling the effects of the high altitude. I was tempted to call it a day. But I looked down at those bright-colored bracelets on my wrist for the NPC kids—Adam, Dillon, Julia, Tyler, the Parseghian children—and I felt a fresh surge of energy.

Denver to Granby

The moms and dads and children impacted with NPC know what real challenges are, day in and day out. I have seen their virtues close up—their kindness and courage, their generosity and grit, their perseverance and hope. I have seen the determination, creativity, and passion of the scientists who keep pushing the envelope and overcoming obstacles, year in and year out, in their pursuit of a treatment for NPC. If the families and researchers can continue to persevere, I can handle one day of bad weather on the Road to Discovery across the Rockies.

Seventy of those researchers from around the globe and some of those families gathered last week in Notre Dame’s Jordan Hall of Science for the fifth annual Michael, Marcia & Christa Parseghian Scientific Conference for Niemann-Pick Type C Research. This dedicated group of researchers shared their most recent findings, which included identifying connections that deepen our understanding of this terrible disease and creating new opportunities for therapeutic development.

The conference kicked off on Thursday afternoon with a presentation from Stanford University’s Suzanne Pfeffer, a biochemist who is studying the role of membrane proteins in cholesterol trafficking. A particular highlight of the session was the exciting work of Dr. Guosheng Liang from the University of Texas Southwestern Medical Center. Dr. Liang is using new gene editing technology in order to create a new NPC mouse model and is looking in to potentially applying the same method for gene therapy in those afflicted with NPC. The evening concluded with an elegant reception and dinner at the Morris Inn and presentations from Cindy Parseghian and Dr. P.J. Brooks, health science administrator in the Office of Rare Disease Research at the National Institutes of Health.

The conference started early on Friday, which was a particularly special day since it included several presentations from Notre Dame researchers. Professor Paul Helquist and Professor Olaf Wiest from the Department of Chemistry & Biochemistry presented their most recent efforts to design and synthesize cholesterol analogues that are now available to structural biologists to probe the transfer of cholesterol between proteins, a critical process related to NPC. Several other researchers including Dr. Ed Holson of Broad Institute, Dr. Fred Maxfield of Cornell Medical College, and Dr. Dan Ory of Washington University Medical School, presented their most recent findings on the use of histone deacetylase (HDAC) inhibitors to combat NPC, an area of research initiated by Professors Helquist and Wiest. Dr. Suhail Alam, a researcher in Notre Dame’s Boler-Parseghian Center for Rare and Neglected Diseases, presented a study of the effect of a combination therapy on a mouse model of the disease. The morning concluded with updates on two current clinical trials through presentations from Dr. Denny Porter (NIH) and Ben Machielse from the small company Vtesse. Dr. Porter is leading both trials of SAHA, an HDAC inhibitor, and cyclodextrin.

The afternoon saw two additional contributions from our Notre Dame family of scientists. Professor Kevin Vaughan presented beautiful results of live imaging of NPC cells demonstrating the potential importance of the motor protein StARD9 in cholesterol transport. In addition, Professor Rich Taylor updated the conference on his group’s discovery of a new class of compounds, RNA splicing modulators, with the ability to correct cholesterol trafficking in NPC cells. After a vibrant afternoon poster session that included presentations from several Notre Dame graduate and undergraduate students, the day wrapped up with a visit and dinner at South Bend’s Studebaker National Museum. This year’s conference concluded on Saturday morning with several additional presentations including details on the mechanism of action of cyclodextrin-mediated reversal in NPC disease.

With each and every conference, the scientists in this field come closer to fully understanding this disease and identifying the key to unlocking a treatment. A special note of gratitude to the conference organizers, Allen Utterback  and Jenna Rangel in the dean’s office in the College of Science, as well as Professors Holly Goodson and Rich Taylor.

1 Comment so far

  1.    John McGreevy on June 22nd, 2015