Challenges to Medicine

I think that there are three challenges to medicine in 2011. I would like to share my view as a physician scientist with you.

1. The root causes of diseases

At this point, we still don't know the root causes of most diseases. I am working on Wolfram syndrome and juvenile-onset diabetes (type 1 diabetes). We know how to control juvenile-onset diabetes, but we cannot prevent or delay the progression of the disease. We need to understand the root causes of diseases to develop novel therapeutics.

2. The variation of disease that occurs across patients

For example, not every patient with Wolfram syndrome has exactly the same disease. Some patients develop diabetes earlier and some patients develop optic atrophy slower than others. We need to understand the root cause of the natural variation. This is crucial for developing personalized medicine.

3. Deliver new therapies to patients

We need to deliver new therapies to patients. It is often challenging to get the best therapies to patients for many reasons. A patient may not afford the best therapy or may not have a doctor who knows the best therapy. We need to raise awareness of this issue. I believe that patient family-physician-scientist partnerships will play an important role in resolving this issue.

I am doing my best to overcome these challenges. I believe that many of us are doing our best too!

From Dream to Action

I attended the Wolfram syndrome clinic and workshop. Patients with Wolfram syndrome develop juvenile-onset diabetes and neurodegenaration. I gave a lecture and could connect with people with the same cause. I was inspired and encouraged by all the participants because of the following reasons.

1. From Dream to Action

All the patients, their families and doctors share the same cause, which is to find a cure for the disease. All of us have the same dream. More importantly, all of us are actively taking action to make the dream come true. I have been impressed by Stephanie and Beth who are mothers of Wolfram patients. I was also encouraged by Kip Branch, a head of the Wolfram syndrome patients' association.
http://snowmanfund.com/default.aspx

2. Strong supporting team

We have great supporters who work very hard to raise awareness of the disease and money for our research.

3. Strong leadership

We have a strong leader, Dr. Alan Permutt.

Thank you everyone! 

For Japanese audience.
Wolfram症候群のクリニックと研究会に参加しました。Wolfram症候群の患者さんは、小児糖尿病に加えて、視神経萎縮、尿崩症、難聴、小脳失調、など、様々な症状を呈します。現在治療法はありません。今回のクリニックには、患者さん１４人が参加しました。また、ご家族の方、様々な分野の専門医の先生、ボランティアー、マスコミの方を含めた研究会が、クリニック終了後に行われました。今回、私はすべての参加者の方からエネルギーをもらいました。私達のグループは、素晴らしいグループだと感じました。それには３つの理由があります。

1. From Dream to Action
患者さん、患者さんの家族、私達医師には共通の夢があります。それは、この病気の治療法をできる限り早く見つけ出す事です。私達は夢を共有するだけでなく、自分達にできる事をしています。私の場合は、研究を進め、新しい治療法，治療マーカーを探し出す事です。

2. 素晴らしいサポートグループ
私達は、この病気を世の中に知ってもらうため、治療法の開発のために、寄付をし、また寄付をつのる、素晴らしいグループに支えられています。元メジャーリーグベースボールプレイヤーのJ.T. Snow選手の役割は非常に大きいです。すでに、多額のお金をプールしています。現在、Foxテレビ、ドキュメンタリー映画の会社が私達の活動のドキュメンタリーを作成しています。

3. リーダーの存在
私達をまとめあげる素晴らしいリーダーの存在です。Alan Permutt先生からは、８年間に渡って、様々なアドバイスを受けています。

The Art of Explaining

You probably explain something to someone every day. Here are three tips for you to become a great communicator.

1. Why does it matter?

A great communicator explains why his/her message is important and useful using simple terms.

2. Short and Succinct

A great communicator makes the message short and succinct

3. The Magic Number is 3.

A great communicator uses three examples supporting the message or creates three bullet points to communicate.

I hope that these three tips are helpful for you.

For Japanese Readers:
日常のいろいろな場面で、私達は様々な事を相手のためになるように、説明する必要があります。私は、以下の３つの事をいつも心がけております。

１　なぜ？
最初に、なぜ説明する内容が相手にとって重要で役に立つのか話すようにしています。


２　短く簡潔に
私は、母国語でない英語で、複雑な内容や難しい問題を相手に理解してもらわなくてはなりません。できる限り簡潔に、短く説明しています。


３　３つのポイント
いつも内容を３つに分けるか、３つの事例を出して、相手に説明しています。

もしよろしければ、是非試してみて下さい。

How to write an article in 15 minutes

I write articles on diabetes, neurodegeneration, medical records, medical case reports, and cell stress. Because I need to write so many articles, I try to finish writing each article in 15 minutes. There are three pillars to accomplish this.

1. Think about my central core message

I think about my absolute central core message on paper. I don't open my computer. I think on paper. I try to create a clearly communicated core message.

2. Create bullet points

I split each article into three or four sections and then create bullet points that present key aspects of each section.

3. Why does it matter?

I focus on the cause. Why should I write this article? I think about this over and over.

After I have done these three things, I start writing. I can finish writing each article in 15 minutes!

Power of Love

I have been fortunate to meet so many wonderful and great people in my life. I have realized that all of them have one thing in common. They have "LOVE." They are full of love and blessings. 

One of my best friends, Dr. Aldo Rossini at Harvard Medical School, said to me, "START EVERYTHING WITH LOVE." If we start everything with the intentions of helping and succeeding, we always feel happy and gratified. We also feel empowered. He calls this "POWER OF LOVE." I have learned this from Dr. Rossini and other great people. Thank you so much!

The secret formula for developing new therapy

Our next step to find a cure for Wolfram syndrome was to set up a Wolfram clinic. A clinic was established to meet annually to obtain baseline measurements of pancreatic beta cells and neural dysfunction on a sample of patients in preparation for clinical trials of new therapeutic agents (i.e. drugs). We also started producing induced pluripotent stem cells using skin from patients. Pluripotent stem cells from patients will be used to test new drugs.

Here is the three step formula for finding a new therapy.

1. Understanding the disease

2. Identify and verify new therapeutic agents

3. Treatment of patients

I call it UIT (You and I Together)!

  

Pediatric Disease Registry & Next Level

We established a registry for Wolfram syndrome. Then we asked ourselves, "What's next?" What do you think? Any answers are welcome!

For Japanese readers.

次なるステップはなんだったと思いますか？そして、その次は？今、次の次まで来ています。

Wolfram syndrome registry

We decided to make an international registry of patients with Wolfram syndrome. The driving force was a mother who had a son with this disorder. She emailed me and my long-term collaborator, Dr. Permutt. She asked us if she could do anything to help her son and other patients. She raised money and hosted a small workshop in Paris, France. 

The workshop was a big success. We exchanged our vision there and made a road map. The registry started in October, 2009. It was a wonderful accomplishment. I felt gratified and thanked all the people who helped us. We then moved to the next level.

Juvenile-Onset Diabetes and Neurodegeneration

I am a physician scientist who is studying diseases in children. We are particularly interested in juvenile-onset diabetes also known as type 1 diabetes. 

One of our patients had juvenile-onset diabetes. In addition, she was developing neurodegeneration. We found that she had a challenging disease called Wolfram syndrome. Patients with Wolfram syndrome develop both juvenile-onset diabetes and neurodegeneration. Currently there is no treatment that can delay the progression of the disease. Although she was facing a big challenge, she stayed positive and maintained a strong spirit. Her mother was equally positive and forward-looking. It has been incredibly impressive to me. To help her and other patients with Wolfram syndrome, we launched an important project. I will talk about this tomorrow.