The Heroes of Wolfram Syndrome

I receive around 200 emails from patients with Wolfram syndrome and Type 1 diabetes every week. They ask me questions, and they share their stories with me. I can keep on going because of them. Please read the stories of patients with Wolfram syndrome, and help us spread the word. It is my privilege to serve for patients with Wolfram syndrome.
http://thesnowfoundation.org/our-story/the-heroes-of-wolfram-syndrome/

Endoplasmic Reticulum Disease Clinic 4: Personalized Medicine again

One of my goals is to practice "Personalized Medicine" in our clinic because each patient is different. The power of genetic medicine should be fully utilized. I believe that whole genome sequencing and exome sequencing are useful for making an accurate diagnosis. The information we get from patient's DNA can be utilized to choose the best specialists for each patient and design a regenerative therapy or gene therapy. I will talk about this more.

I feel that something wonderful is going to happen to you today!

The Last Advice from late Dr. Alan Permutt

I talked about medicine and DNA too much in the past several days. So let's take a break and talk about Dr. Permutt.

As many of you know, I took over Dr. Alan Permutt's research program on Wolfram syndrome two years ago. I believe that it was controversial that a young foreign physician would take over Dr. Permutt's position. As I mentioned in my previous blogs, I was leaving research when Dr. Permutt asked me to come to Washington University. So I talked with him many, many times before I made a decision. He assured me that other Washington University doctors, including Dr. Semenkovich, Dr. Fraser, Dr. Hershey, Dr. Marshall, Dr. White and others, would help me. He also told me that the Snow Foundation would support me. What he told me was all true. All the doctors have been supportive and helping me a lot, which I always appreciate. The support from the Snow foundation is enormous. I always feel that our higher power lets us work together.

The last advice from Dr. Permutt was the following.
"Fumi, All of my colleagues will help you. Just trust them. You will take us to the next level, and all of your new colleagues will help you."

I see a big smile in your face! I hope you will have the best day in your life. I am sending kind thoughts towards you!

Endoplasmic Reticulum Disease Clinic 3: Personalized Medicine

I received many questions about yesterday's blog describing the clinical application of a new DNA sequence technology.
http://wolframsyndrome.blogspot.com/2014/07/endoplasmic-reticulum-disease-clinic-2.html
So I would like to clarify a few things.

1. Cost
There is a lot of discussion about the cost. Will our health insurance cover this? I believe that it will be covered in the near future. To sequence all the genes in each patient is equivalent to taking the perfect past medical history and family history. So there is a tremendous value in doing this.

2. Personalized Medicine
It is critical to sequence all the genes in each patient for designing a treatment strategy. Each patient is different, and we should design a personalized treatment plan for each patient. I am designing a few treatments for Wolfram syndrome patients. One of the treatments that I have designed should work for patients who have WFS1 gene mutations, but not for patients who have WFS2 gene mutations. I have many other examples.

I hope that you will have the best week in your life! Talk to you tomorrow!

Endoplasmic Reticulum Disease Clinic 2: First Step

What is the first step to provide the best care for patients with rare endoplasmic reticulum diseases, including Wolfram syndrome? The answer probably applies to any undiagnosed disease. 

My answer as of today is"exome sequencing." What is exome sequencing? Exome sequencing is a new technology to sequence all the genes in each patient. This is available at our medical center. By looking at all the genes instead of one gene (such as WFS1 gene), we have a better chance to understand what is really going on in each patient. This is also critical for designing "personalized" treatment. As I mentioned before, each patient is different, and should be treated differently. We should look at all the genes, not one.