Keep Moving, Moving, Moving Forward

In the past two years, my team has identified drug targets, developed animal and cell models of Wolfram, and identified small molecules for treating patients with Wolfram syndrome. We completed key preclinical studies last week and submitted a research article to the National Academy of Sciences of the USA (Medical Science section) last night. I have been fortunate to have wonderful fellow scientists, physicians and technical assistants in my team. I felt so grateful. Based on these findings, we keep on moving forward to advance to our next step.

Here is the acknowledgment section of our article.
We thank all of the participants in the Washington University Wolfram Registry and Research Clinic and their families for their time and effort (https://wolframsyndrome.dom.wustl.edu/). We also thank Mai Kanekura, Mariko Hara, and Karen Sargent for technical support and the Washington University Wolfram Study Group Members and the study staff for advice and support in the greater research program. This work was supported by grants from NIH (DK067493, P60 DK020579, and UL1 TR000448), JDRF (47-2012-760 and 17-2013-512), ADA (1-12-CT-61), the Team Alejandro, the Team Ian, the Ellie White Foundation for Rare Genetic Disorders, and the Jack and J.T. Snow Scientific Research Foundation to F. Urano. We dedicate this article to late Dr. M. Alan Permutt, and Mr. Jonathon Wasson who devoted their lives to Wolfram syndrome research.  Their deaths were a great loss for us all.

Thank you for reading this blog. I saw many videos of people participating in the bucket challenge for Wolfram syndrome. I appreciate your support. Thank you, Thank you, Thank you.

What a wonderful day

I feel that this week is going to be a great one. Many good things happened yesterday.

Lasker Medical Research Award Winners were announced yesterday, and two of the recipients were ER stress researchers! This was great news in the field of ER stress! I sent them emails right away, and they responded to me right away! Thank you!

My former student texted me and let me know that her first class (as a professor) went well. I felt great!

We could confirm that our potential drugs for Wolfram can restore both beta cell and neuronal cell functions. The dose escalation study using beta cells is ongoing. I was encouraged.

Thank you for reading this. I feel grateful. I hope you will have a wonderful day.

Why am I optimistic?

I am optimistic because I see possibilities. We have FDA-approved drugs, new drugs, stem-cell therapies, and genome-editing therapies. When I came to Washington University Medical Center two years ago, none of these existed. So I have reasons to be optimistic.

Thank you for reading this blog. I hope you will have a wonderful week. I am grateful, optimistic, and hopeful. Thank you again.

Why beta cells and brain cells degenerate? That's the key.

In Wolfram syndrome, insulin-producing beta cells in the pancreas and brain cells selectively degenerate. Why? We extensively studied their skin cells and lymphocytes, and did not find any problems although these cells have impaired WFS1 functions. I always think that this mysterious finding will eventually lead to a cure for Wolfram. If we understand why beta cells and brain cells are sensitive to impaired Wolfram gene functions, we can design a new treatment.

We got encouraging results last week. It seems like that the same drug can potentially restore functions in beta cells and brain cells of Wolfram patients. Our results suggest that pancreatic beta cells and brain cells degenerate by the same mechanisms. Thus, a drug that can stop the degeneration of beta cells should be able to stop the degeneration of brain cells and eye cells. I was really encouraged. We should keep on moving forward.

I hope you will have a wonderful Sunday. I am sending kind thoughts toward you.

I am here because...

My interview will be published in "Resident Note" soon. This is a Japanese journal for young physicians. I talked about my career path and explained why I started working on Wolfram syndrome. I was reading a draft prepared by editors of the journal and realized that it was not an accident that I came to Washington University. All the patients whom I met in the past brought me here. It is a little difficult for me to explain by words, but I realized that I was brought here from the other side of this planet with a reason. So I will keep on doing my best.

I hope you will have a wonderful weekend. Thank you for reading this. I always appreciate your encouragement, support, and kind words. Thank you again. I am doing my best and will keep on doing my best.