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A cure for Wolfram syndrome could lead to a cure for diabetes.

Saturday, November 15, 2014

Moving to the Washington University Medical Center website

Dear Friends,

We are moving to the Washington University Medical Center website. We will make the most informative and helpful web for our patients, families, physicians, researchers, and general public. We will closely work with patient organizations.

Information about Wolfram syndrome
http://wolframsyndrome.dom.wustl.edu/
My blog
http://wolframsyndrome.dom.wustl.edu/dr-uranos-blog/

Please feel free to contact me if you have any questions.
urano@dom.wustl.edu
314-362-8683

Fumi Urano
Kindest regards,


Friday, November 14, 2014

Wolfram syndrome website at Washington University Medical Center

We have created an website specifically designed for Wolfram syndrome patients, families, physicians, and researchers. Our aim is to create the most useful and informative site and platform for patients with Wolfram syndrome. We plan to keep on adding information to this site.
http://wolframsyndrome.dom.wustl.edu/

Most of my previous blogs have been transferred to this site. I plan to move my blog there.
http://wolframsyndrome.dom.wustl.edu/dr-uranos-blog/

The site is managed by a wonderful information technology specialist. I cannot thank you enough for her efforts.

Kindly,

Fumi Urano

Insulin-producing cells and brain cells in Wolfram syndrome

In Wolfram syndrome, insulin-producing pancreatic beta cells and brain cells selectively degenerate. Other cells, such skin cells and immune cells, are healthy. Why are beta cells and brain cells so sensitive to the loss of function of Wolfram gene?

It has been recently suggested that beta cells and brain cells have many common features. My hunch is that brain cells and brain-like cells, including beta cells, are sensitive to dysregulated calcium homeostasis. So if we can modulate cellular calcium homeostasis using small molecules, we can potentially delay the progression of Wolfram syndrome. We have preclinical data supporting this model. We can disclose the information soon.

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

Kindly,
Fumi Urano
http://wolframsyndrome.dom.wustl.edu/

Thursday, November 13, 2014

Dr. Banting

Today is our Diabetes Research Center's Diabetes Day. We will present our progress on the development of therapeutics and diagnostics for Wolfram syndrome.

The father of diabetes research is Dr. Banting who discovered insulin. His research led to the insulin therapy for patients with diabetes. Here is an interesting blog about him.
http://diabetesdad.org/2014/11/12/this-man-saved-your-your-childs-life-what-do-you-know-about-him/

I hope you have a wonderful day.

Kindest regards,
Fumi Urano
http://wolframsyndrome.dom.wustl.edu/

Wednesday, November 12, 2014

Brain Functions and Medication

Patients with Wolfram syndrome face multiple challenges in addition to diabetes. That's why I always feel that Wolfram is the most difficult form of diabetes. Mood swings, anxiety, and depression are commonly seen. Although the molecular mechanisms underlying these symptoms are not clear, we assume that these are related to the dysregulation of neurotransmitter secretion. Endoplasmic reticulum is involved in the maturation and secretion of secreted factors in the brain cells, and Wolfram protein is localized to the endoplasmic reticulum and secretory granules.

Because Wolfram is diabetes with brain cell dysfunction, our candidate drugs should pass the blood-brain barrier. Many drugs cannot reach the brain because blood vessels in the brain have a special structure called the blood-brain barrier. I always make sure that our candidate drugs pass the blood-brain barrier and reach brain cells. 

Thank you for reading this. I would like to send kind thoughts toward you. I would like you to stay optimistic. Thank you again.

Take care,
Fumi Urano

Tuesday, November 11, 2014

Please help us spread the word

There is an urgent need to develop therapeutics for Wolfram syndrome. We need to swiftly test the safety of each new treatment and bring it to patients. I hope you share the video and help us spread the word.

I am interested in donating my intellectual properties to patient organizations. A clinical trial for new treatment is controlled by a pharmaceutical company or an investigator who owns the intellectual property of the treatment/drug. If a patient organization owns it, they can control the clinical trial and potentially get some income out of it. They can use the money for developing new therapies or raising awareness.

Thank you for reading this. I always appreciate your continued encouragement and support. I read all the emails with gratitude. I cannot thank you enough.

Warmest regards,
Fumi Urano

Monday, November 10, 2014

Intervention and Platform

My team is pursuing multiple therapeutic modalities, including therapies using FDA-approved drugs (drug repurposing), combination therapies, new small molecules, and stem cell-based therapy combined with genome editing. I am also working hard to create platforms to bring these new therapies to patients. Both should happen simultaneously.

Thank you for reading this blog. I feel something wonderful is going to happen to us today.

Warmest regards,
Fumi Urano

Sunday, November 9, 2014

Combination therapy

My team's new initiative is to develop a "combination therapy" for Wolfram and Type 1 diabetes. What is a "combination therapy"? It is a therapy that uses more than one medication or modality. The advantage for this is that we can target different enzymes involved in the disease progression, which may increase our chance of stopping the progression. We may be able to decrease the dose of each drug, which reduces the risk of side effects. The challenge is that we don't know which combination is the best. It is almost like solving the puzzle, but we will keep on trying.

Thank you for reading this. I hope you have a wonderful Sunday.

Warmest regards,
Fumi Urano

Saturday, November 8, 2014

Other symptoms and an urgent need

Wolfram syndrome is characterized by juvenile-onset diabetes and optic nerve atrophy. Many patients experience diabetes insipidus, hearing impairment, and ataxia due to neurodegeneration. You can find these symptoms in a text book or review articles.

There are other common symptoms that have not been extensively studied. Here is the list of symptoms based on our database. More than 10% of patients experience the following. You will find how difficult this disorder is. There is an urgent need to develop therapeutics for Wolfram syndrome. We need drugs and stem cell-based therapy in combination with gene therapy

Neurogenic Bladder: 25.00%
Anxiety: 25.00%
Headaches: 25.00%
Problems Regulating Temperature: 22.50%
Bladder Incontinence: 17.50%
Apnea: 15.00%
Dizziness When Standing Up: 15.00%
Postural Instability (this is related to ataxia, but just in case): 12.50%
Hypogonadism: 12.50%
Seizures: 12.50%
Constipation/Fecal Impactation: 12.50%
Panic Attacks: 10.00%
Weight Loss: 10.00%
Excessive Sweating : 10.00%

I would like to donate the entire data in our registry database to the patient organizations. I feel patients should own the data collected from patients.

Although these symptoms sound awful, I am still hopeful. We are making steady progress. I believe in the power of genetic medicine. I always appreciate support from our patients and families, patient organizations, our colleagues in St. Louis, US, England, Europe, South America, and Asia. I feel grateful. Thank you, Thank you, Thank you.

Kindest regards,
Fumi Urano

Friday, November 7, 2014

Thank you, Thank you, Thank you for your support.

I receive many emails and phone calls from patients with genetic disorders, including Wolfram syndrome, and diabetes. Most of them have questions related to their conditions. I also receive thank-you letters. I appreciate all of these emails, phone calls, and letters. I always learn some thing out of these. 

Our therapeutic development is largely supported by donations from patient organizations, patients, and their family members and friends. The Jack and JT Snow Foundation has been supporting my team since I joined Washington University Medical Center in 2012. Recently the Ellie White Foundation has started supporting my team. The team Alejandro and the team Ian also started supporting us. I also receive individual donations all the time. Patient organizations in the US and UK are raising awareness. I cannot thank you enough. I feel grateful.

I read the blog written by Lauren, one of our patients, yesterday and was struck by that. I hope you will read this. 

Thank you for your support. I feel grateful. Thank you, Thank you, and Thank you.

Take care,
Fumi Urano

Thursday, November 6, 2014

Safety

We have identified a few small molecules (i.e., drugs) that can potentially delay the progression of Wolfram syndrome. Our current focus is to make sure these drugs are safe. Ultimately, we need to confirm the safety in patients by conducting dose escalation studies

I had productive discussions yesterday. Both meetings were fruitful. I feel hopeful today. Thank you so much for your support and encouragement.

Warmly,
Fumi Urano

Wednesday, November 5, 2014

One day living with juvenile diabetes

Our teammate, Mrs. Pat Gibilisco, who runs our patient supporting group web introduced us a very important short video

This short video describes "one day" of a 7-year-old boy with juvenile diabetes. As many of you are aware, chronic disease never leaves you. You need to live with it 24/7. You can't take a break even on Sundays and holidays. We need to educate patients how to live with it, but what we really want is to provide a cure. It is not easy, but I always believe that's what we should pursue


Thank you for reading this. I will have very important meetings today and I am hopeful. 


Kindest regards,

Fumi Urano

Tuesday, November 4, 2014

Raise Awareness for the younger generation

Mrs. Stephanie Snow Gebel, my teammate and the driving force for our Wolfram syndrome research, gave a presentation on Wolfram syndrome and juvenile diabetes for 600 children yesterday. It was successful. She has been helping us raise awareness and raise funds for therapeutic development. It is important to raise awareness for the younger generation of rare diseases and other medical conditions. We will keep on raising awareness of Wolfram syndrome. We need HOPE to move forward.

Thank you for visiting this website. I am sending kind thoughts toward you.

Kindly,
Fumi Urano

Monday, November 3, 2014

Thank you, Wolfram syndrome UK

Wolfram syndrome UK just hosted a successful  'A Night at the 80's' event! They have been working very hard to raise awareness and funds for combating Wolfram syndrome. I look forward to meeting with them soon. 
http://www.wolframsyndrome.co.uk/index.html

I hope you have a wonderful Monday. Thank you for reading my blogs. I appreciate your support, suggestions, and encouragement. 

Kindly,
Fumihiko (Fumi) Urano

Sunday, November 2, 2014

A platform to inject stem cell-derived cells or trophic factors

We have started a workgroup whose main purpose is to create a practical clinical platform to inject stem cell-derived cells or drugs stereotactically into human patients with degenerative disorders, including Wolfram syndrome, as a therapy. We will also discuss the merits of one therapeutic strategy over another as well. Our focus is the physical, infrastructural, and regulatory aspects of achieving this. I will work with prominent neurosurgeons. More to come. http://wolframsyndrome.dom.wustl.edu/

Thank you for reading this. I feel hopeful. Have a beautiful Sunday. Wishing you A happy week ahead. Kindly, Fumi

Saturday, November 1, 2014

Think ahead for transplantation

I was speaking with my good friend in neurosurgery last night. We talked about the injections of trophic factors and stem cell-derived brain cells into patients with Wolfram syndrome and other degenerative disorders. Our conclusion is that we should start preparing for these now. We need a CLIA-Certified facility to create stem cells using patients' skin cells (not the embryonic stem cells) and stem cell-derived brain cells and eye cells. We need devices for injections of trophic factors and stem cell-derived brain cells. We need to think ahead. The stem cell-based therapy group started last night. http://wolframsyndrome.dom.wustl.edu/

Thank you for reading this blog. I hope you have a wonderful weekend. I feel empowered today. Kindly, Fumi Urano

Friday, October 31, 2014

Q&A Wolfram syndrome

Here are the questions I often get. There is currently no effective treatment for Wolfram syndrome, creating an urgent need to develop novel therapeutics. Our current strategy is to delay the progression of common manifestations using small molecules (i.e., drugs), and then develop stem cell-based therapies.
http://wolframsyndrome.dom.wustl.edu/

Q: What is Wolfram syndrome?


A: Wolfram syndrome is a genetic form of diabetes mellitus. In addition to diabetes mellitus, most patients suffer from optic nerve atrophy and neurodegeneration, especially brain stem and cerebellar atrophy.


Q: What is diabetes mellitus?


A: Diabetes mellitus is a group of disorders characterized by hyperglycemia (high blood sugar levels). This is due to either an absolute deficiency of insulin, as occurs in type 1 diabetes and Wolfram syndrome, or a relative deficiency of insulin, as occurs in type 2 diabetes.



Q: What is diabetes insipidus?


A: Diabetes insipidus is one of the common symptoms in patients with Wolfram syndrome. It is defined as the passage of large volumes of dilute urine. It has the 2 major forms, and patients with Wolfram have the central diabetes insipidus.


1. Central (neurogenic, pituitary, or neurohypophyseal): characterized by decreased secretion of antidiuretic hormone called vasopressin.

2. Nephrogenic: characterized by decreased ability to concentrate urine because of resistance to vasopressin action in the kidney.

Q: What is optic atrophy? Is it different from retinopathy? Is there any treatment?


A: The mechanisms of vision impairment in Wolfram syndrome and type 1 diabetes are different. In short, the vision impairment in type 1 diabetes is a problem in small blood vessels supplying nutrition to the eyes. It is caused by high blood sugar levels and called retinopathy.


The vision impairment in Wolfram syndrome is a problem in neuronal cells in the eyes transferring the electrical signal produced in the eye to the brain. It is caused by neuronal cell death and called optic atrophy.


There is currently no treatment for optic atrophy. One of the major neuronal cells in the eyes declining in Wolfram syndrome are “retinal ganglion cells” which transmit electrical signals to the brain. If we can make these cells and transplant them to Wolfram patients, we can possibly treat blindness or improve eyesight. To accomplish this, we need a source for new retinal ganglion cells. I believe that induced pluripotent stem cells (iPSCs) is the source for the new retinal ganglion cells.


Q: “Is there any relationship between diabetes and optic nerve atrophy?”


A: This question implies a few different things. Here are my answers. 

1. Type 1 Diabetes
I believe that there is no direct relationship between type 1 diabetes and optic atrophy. Type 1 diabetes is an autoimmune disease. Our immune cells attack antigens highly expressed in pancreatic β cells in type 1 diabetes. These autoimmune cells usually do not attack optic nerve although patients with type 1 diabetes are susceptible to other autoimmune diseases. As I mentioned in my previous blog, patients with type 1 diabetes may develop retinopathy if there blood sugar levels are not properly controlled.

2. Wolfram syndrome

In Wolfram syndrome, there is probably a direct relationship between diabetes and optic nerve atrophy. Both pancreatic β cells and optic nerve are susceptible to endoplasmic reticulum dysfunction. So β cell death and death of retinal ganglion cells  have the same etiology, i.e. ER dysfunction.

3. Do all patients with Wolfram syndrome have diabetes and optic nerve atrophy?


The answer is, “No.” In most cases, diabetes is the first manifestation of Wolfram syndrome, followed by optic atrophy. However, there are some patients who develop optic atrophy first and don’t develop diabetes for a long period of time. I know one patient with Wolfram whose diabetes was diagnosed at 40 years old. I don’t know why, but it seems like these patients tend to have milder symptoms. I am very interested in carefully studying these patients because I may be able to find a way to delay the progression of Wolfram through these patients. This effort is underway (i.e., modifying my human study protocol).

Q: What can you do to improve "neurogenic bladder" ?


A: Many patients with Wolfram syndrome experience neurogenic bladder. I always recommend that a patient consult with a urologist if he/she has a problem in urination. Here are my thoughts.


1. What is neurogenic bladder?

Our urination is regulated by two types of muscles in the bladder. These are the detrusor muscle and sphincter muscle. When we urinate, the detrusor muscle pushes out the urine and the sphincter muscle relaxes to open up the way out. These muscles are controlled by a part of the brain and neuronal cells connected to the bladder. Neurogenic bladder is a term applied to dysfunction of the bladder due to dysfunction of a part of brain and neuronal cells. In short, this is a problem in neuronal cells.

2. What can you do?

I always recommend that a patient see a urologist to determine the status of neurogenic bladder and get advice.

3. Our progress


As I mentioned in my previous blog, our recent progress strongly suggests that neuronal cell dysfunction in Wolfram syndrome is caused by dysregulation of cellular calcium homeostasis. We are developing a treatment to manipulate the calcium homeostasis in patients' cells using a drug, and making significant progress. I hope that my strategy will work out.


Q: What are electrolytes and sodium? 

A: Electrolytes are "salts" in our blood and cellular fluids. The difference between the concentrations of these salts inside and outside the cells regulates the contraction of muscle cells and the signal transduction in brain cells (neurons). Sodium is the major salt outside the cells. The reference range for serum sodium is 135-145 mmol/L.


It seems like some patients with Wolfram syndrome experience "low sodium." Our body regulates sodium levels by balancing water in the body with use of antidiuretic hormone. DDAVP is often prescribed for patients with Wolfram syndrome because they tend to produce less antidiuretic hormone and produce excess amount of urine. DDAVP is a synthetic antidiuretic hormone, regulates the body's retention of water, and decreases the volume of urine. The challenge for Wolfram patients is that they tend to have bladder problems and may need to go to bathroom often. This is not because of the excess production of urine, but they may increase the dose of DDAVP, which increases the body's retention of water and may lead to low sodium levels. As our colleague Dr. Marshall recommends, Wolfram patients should consult with their endocrinologists if they feel their serum sodium levels are low.


In addition, serum sodium levels may not be reliable when patients have poor renal functions or have severe hyperglycemia.

Thursday, October 30, 2014

Are genetically engineered cells safe?

I see great potential in stem cell-based therapies, especially induced pluripotent stem cells (iPS cells) derived from patients' skin cells. At the same time, I am aware of challenges we may face. One of the major issues is safety. Because stem cells can differentiate into any types of cells, there is a chance that these cells become tumors. So we should make sure that we terminally differentiate them into specific types of cells. In addition, we should frequently monitor transplanted cells. That's one of the reasons I am interested in transplanting stem cell-derived eye cells. Eye is probably the only place in our body where we can easily and frequently monitor the status of transplanted cells.

Thank you for reading today's blog. I hope you have a wonderful day. Cordially, Fumi Urano
http://wolframsyndrome.dom.wustl.edu/

Wednesday, October 29, 2014

Raise Awareness October 29, 2014

It is important for us to raise awareness of Wolfram syndrome and other rare diseases. I often talk about this topic because this is so important. We need more doctors who know about Wolfram syndrome in each state or city. We need to develop new treatments for the disease and bring them to patients as soon as we can. We are racing against time and every moment counts. We need to develop stem cell-based therapy for the disease and bring this to the clinic swiftly.  All of these are required to accomplish a cure and can be accelerated by raising awareness. We will keep on working with you. Please help us spread the word. 
http://wolframsyndrome.dom.wustl.edu/

Thank you for reading this blog. I hope you have a wonderful day. Kindly, Fumi Urano

Tuesday, October 28, 2014

Combating optic nerve degeneration in Wolfram syndrome

One of the most important developments in my team is our collaboration with Dr. Raj Apte's team. Dr. Apte is a renowned physician-scientist and expert in retinal surgeries and molecular biology. His and our teams are working together to make new mouse models of Wolfram syndrome to study the mechanisms of optic nerve degeneration and create different types of eye cells using iPS cells of patients with Wolfram syndrome. I will keep you updated about our progress.

Thank you for reading this blog. I hope you have a wonderful day. Kindly, Fumi Urano

Monday, October 27, 2014

Wolfram syndrome website at Washington University Medical Center

I hope you help us spread the word to raise awareness of Wolfram syndrome, the most difficult form of diabetes. http://wolframsyndrome.dom.wustl.edu/

Kindest regards,
Fumi Urano

Stem cell-based therapies Q&A-Fate of transplanted cells

I received an intelligent and important question yesterday.

Q: iPS cell-derived insulin-producing cells may be attacked again by autoimmune cells in Type 1 diabetes. iPS cell-derived insulin-producing cells and eye cells may degenerate again in Wolfram syndrome. What is the solution?

A: This is a very important question. Before we transplant iPS cell-derived cells, we need to modify disease-causing gene structure in Type 1 diabetes and Wolfram syndrome. In Type 1 diabetes, we probably need to modify insulin gene structure. In Wolfram syndrome, we need to modify Wolfram gene structure. This can be accomplished by genome editing. The genome editing technology is a new type of gene therapy. Using an enzyme and artificially designed guide RNA, we can modify gene structure. We are actively working on this.

Thank you for reading this blog. I hope you have wonderful Monday. Take care, Fumi Urano

Sunday, October 26, 2014

Stem cell-based therapies - How long?

Here is another question related to stem cell-based therapies. 

Q: How long will it take for stem cell-based therapies to become mainstream? 

A: There are multiple ongoing clinical trials based on stem cell-based therapies. I feel that the development of workflows for manufacturing and quality control is one of the key issues. Regulators (such as FDA), researchers, clinicians, and manufactures should work together to solve this issue. 

Thank you for reading this blog. Enjoy wonderful Sunday. Fondly, Fumi Urano

Saturday, October 25, 2014

Stem cell-based therapy Q&A - Medical Use

Here is another question I often get.

Q: How can we use stem cells for the treatment of Wolfram syndrome and Type 1 diabetes.

A: Stem calls can differentiate into specific cell types including insulin-producing cells, retinal cells, and brain cells.  The most important function of stem cells, especially induced pluripotent stem cells (iPS cells), is their potential use as "cell-based therapies." iPS cells are a type of stem cells derived from patients' own skin cells and could be used to repair damaged tissues. 

For patients with Type 1 diabetes, iPS cells could be prompted to differentiate into insulin-producing cells and transplanted into the body. The body wouldn't reject these new cells as they would with donated cells or tissues from other individuals (called immune rejection). 

For patients with Wolfram syndrome, iPS cells could be stimulated to differentiate into insulin-producing cells, eye cells, and brain cells and transplanted into the body. Insulin-producing cells could be transplanted under the skin. We need to find the best way to transplant eye cells and brain cells, and the research is ongoing to figure this out.

Thank you for reading this blog. I hope you have a wonderful weekend. Kindly, Fumi Urano

Friday, October 24, 2014

Wolfram syndrome UK

Wolfram syndrome UK is a support group for patients with Wolfram syndrome in the UK. Mrs. Tracy Lynch is leading this initiative and has been helping us spread the word in the UK. They are partnering with Dr. Barrett, a pioneer in Wolfram syndrome research. I respect and appreciate their efforts. Thank you, Thank you, Thank you.

I will visit the University of Birmingham Medical Center where Dr. Barrett holds the endowed professorship and is a staff physician soon to discuss our next steps. I will also meet with Mrs. Lynch and patients with Wolfram syndrome in the UK. It is always my privilege to work for patients with Wolfram syndrome.

Thank you for reading this blog. I hope you will have a wonderful weekend. I am grateful and hopeful. Kindly, Fumi Urano

Thursday, October 23, 2014

Stem cell-based therapy Q&A 1

I have been receiving many questions related to stem cell-based therapy for Wolfram syndrome and diabetes. I would like to share these questions and my answers with you.

Q: What are stem cells?

A: Stem cells are a type of cells that have potential to develop into many different cell types, including insulin producing cells and eye cells, in our body. There are two types of stem cells that can be utilized for treatment. These are induced pluripotent stem cells (iPS cells) and embryonic stem cells (ES cells).

iPS cells are derived from skin fibroblasts. These cells may be useful for designing personalized medicine. ES cells are derived from fertilized eggs. My team is focusing on iPS cells derived from patients' skin cells because of many reasons.

Thank you for reading this. Please feel free to contact me if you have any questions. I am sending kind thoughts toward you. Take care, Fumi Urano

Wednesday, October 22, 2014

Stem cell-based therapy in motion

It has been just published that a stem cell-based therapy for macular degeneration is safe and effective for macular degeneration, one of the leading causes of blindness.
http://www.theguardian.com/science/2014/oct/15/stem-cell-success-in-treating-macular-

We should follow their success and I am in constant motion to make this happen for patients with Wolfram syndrome. Stem cell-based therapeutics and gene-based diagnostics will change the world. 

Thank you for reading this blog. I am sending kind thoughts toward you! Kindly, Fumi Urano

Tuesday, October 21, 2014

Bringing change to the clinical trial process

I hope we can bring change to to the clinical trial processes for rare diseases. Each patient is different. The conventional clinical trial design may not be feasible. I welcome the proposed changes described in the article.
http://www.forbes.com/sites/medidata/2014/09/25/rare-disease-patient-voices-bring-change-to-the-clinical-trials-process/

I feel quite hopeful and encouraged because of new initiatives and partnerships I have been involved in. I hope you have a wonderful day today. I feel something wonderful is going to happen. Kindly, Fumi Urano

Monday, October 20, 2014

Raise awareness in the younger generation

NIH has been helping us raise awareness of rare diseases in the younger generation. To bring new therapeutics based on genetic medicine to our patients, we need support from the general public. The following web is quite helpful to achieve this.
http://science.education.nih.gov/customers.nsf/MSDiseases.htm

Thank you for reading this blog. I hope you have a wonderful day. Take care, Fumi Urano

Sunday, October 19, 2014

Gene-based diagnostics can help patients

My team has been working on establishing gene-based diagnostics for rare forms of diabetes. This article in New Yorker reminds us of the importance of genetic medicine and gene-based diagnosticshttp://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2

We clearly need new and innovative therapeutics for each genetic disorder. To accomplish this, we need new diagnostics to figure out what's really going on in each patient. The medicine has changed dramatically in the past 5 years due to the development of next generation gene sequencing, gene editing, and stem cell-based therapeutics. We should bring these innovative diagnostics and therapeutics to out patients swiftly. We need to raise awareness of these.

Thank you for reading this blog. It is a beautiful day here in St. Louis. I hope you have a wonderful Sunday. Cordially, Fumi Urano

Saturday, October 18, 2014

Raise Awareness - Spread the word

I always feel that we should raise awareness of rare diseases to provide a cure. We certainly need new therapeutics. We need small molecules to halt the progress. We need stem cell-based and genome-engineering-based therapies to provide a cure. My team has been working on small molecules, stem cells, and genome editing. However, we need to raise awareness of the disease. To bring our new treatments to our patients, we need funds and supports from the FDA and our local IRBs. To get support, we need to raise awareness. The Jack and JT Snow Foundation, the Ellie White Foundation, the Team Alejandro, the Team Ian, the Wolfram syndrome patient support group, the Wolfram syndrome UK, and association du syndrome de Wolfram are working hard to raise awareness. Please help us spread the word. http://wolframsyndrome.dom.wustl.edu/

Thank you for your encouragement and continued support. I hope you have a wonderful weekend. Kindly, Fumi Urano

Friday, October 17, 2014

Molecular surgery update-a new type of gene therapy

We have been trying to correct the mutations in the WFS1gene that cause disease manifestations using a new technology called CRISPR-CAS. This is a new type of gene therapy. We could finally correct one mutation in iPS cells from one patient with Wolfram syndrome. It took a few months, but this is a great first step. We will keep on trying!

Thank you for reading this blog. I feel grateful. Have a wonderful day. Onward & upward, Fumi Urano

Thursday, October 16, 2014

We can utilize iPS cells to model our disease

We are actively using induced pluripotent stem cells (iPS cells) to develop therapeutics for Wolfram syndrome. What are iPS cells? These are a type of stem cells derived from our skin cells. iPS cells can be differentiated into any types of cells. So we can use these cells to replace damaged tissues in patients with Wolfram syndrome and other disorders.

In addition, we can use iPS cells to model our disease. Professor Doug Melton at Harvard, a prominent scientist who has developed a method to create insulin-producing cells from stem cells, talked about iPS cells in his interview. In short, we can model our disease using iPS cells to understand the mechanisms and test potential therapies.

Professor Melton said,
"If you wanted to design a thought experiment to get at the cause of type 1 diabetes, it would go as follows. We would take a person with diabetes and clone them 100 times. We would put the clones in different environments, feed them different foods, give them different viruses and every five minutes take blood samples, do pancreatectomies and try to figure out the primary cause. Obviously we are not going to do this experiment, but iPS cells give us an alternative, which is why I am so excited."
http://www.newscientist.com/article/dn17729-doug-melton-finding-a-cure-for-diabetes.html#.VD2F_ildV19

Thank you for reading this blog. I am hopeful. Take care, Fumi Urano

Wednesday, October 15, 2014

Translational Medicine

Dr. Francis Collins is my role model and I have been trying to emulate what he has done on cystic fibrosis and progeria. Dr. Collins is a lucent speaker. His presentation on translational medicine at TED MED was fabulous, and I hope you will watch this when you get a chance. Sam Berns, his friend and patient with progeria, is with him in the video.
https://www.youtube.com/watch?v=spUoPC_TU_8

Thank you for reading this. Please feel free to contact me if you have any questions. I hope you have a wonderful day. Onward and upward, Fumi Urano
*Please help us spread the word.
http://wolframsyndrome.dom.wustl.edu/

Tuesday, October 14, 2014

In Memory of Sam by Dr. Collins

Dr. Francis Collins is a world-famous medical researcher and my role model. He is a god in genetic medicine. He has been working on multiple rare diseases. Currently he is director of the National Institutes of Health. I often read one of his blogs on Sam Berns, his friend and patient with a rare disease.
http://directorsblog.nih.gov/2014/01/12/in-memory-of-sam-berns/
I was inspired by this and wrote a blog on one of our patients, Ms. K.
http://wolframsyndrome.blogspot.com/2014/02/in-memory-of-k.html
I feel the same for our patients with Wolfram syndrome. Many of them are my friends and I would like to help them. We found a few candidate drugs that can theoretically delay the progression of the disease. I hope we can bring these drugs to our patients soon. We also need to develop gene therapy and regenerative therapy to provide a cure.  I believe in the power of genetic medicine. I need more help and funds, but I am committed to make these happen. 

Thank you for reading this blog. I am sending kind thoughts toward you. Warmly, Fumi Urano

Monday, October 13, 2014

Genetic testing and VUS

What is "VUS"? VUS stands for variant of unknown significance. VUS means that DNA sequence variation is previously unreported and is of the type which may or may not be causative of the disorder. 

Some variations are tightly linked to the disease, and some variations are clearly not linked to the disease. There are still many variants of unknown significance. If a patient has the VUS, clinicians and medical geneticists work together and figure out whether the VUS is associated with the disease or not.

Thank you for reading this blog. I hope you have a wonderful day. Take care, Fumi Urano

Sunday, October 12, 2014

Genetic testing?

What is genetic testing? It is the process of using medical tests to look for clinically relevant changes in a person's genes. 

Genetic testing has utility in

-Diagnosis
-Prognosis
-Therapeutic decision making

Currently, genetic testing for Wolfram is useful for making diagnosis and estimating prognosis. I believe that it will be useful for therapeutic decision making in the next few years. I feel that genetic testing will be a critical component in many aspects of healthcare management.


Thank you for reading this blog. I hope you have a wonderful Sunday. Warmly, Fumi Urano

Saturday, October 11, 2014

How many beta cells do we have?

A few days ago, someone asked me, "How many beta cells do we have?" Based on the literature, we have "1 billion" insulin-producing beta cells in the pancreas. If we lose 50% of them, we may have symptoms of diabetes. So to provide a cure for diabetes, we need to create "1 billion" beta cells using stem cells for each patient. We also need to stop beta cell dysfunction and death. In Wolfram syndrome, beta cell loss is probably mediated by dysregulated intra-cellular calcium homeostasis. So we are trying to fix this using small molecules (i.e., drugs). 

Thank you for reading this blog. I hope you will have a wonderful Saturday. I am sending kind thoughts toward you. Kindly, Fumi Urano

Friday, October 10, 2014

Stem cell-based therapy for diabetes

I heard wonderful news last night. Professor Doug Melton's group at Harvard developed a method for creating massive quantities of insulin-producing cells from stem cells.
http://news.harvard.edu/gazette/story/2014/10/giant-leap-against-diabetes/

One of the biggest challenges in the field of regenerative medicine is to create large quantities of specific types of cells from stem cells. It was impossible to make large quantities of insulin-producing beta cells from stem cells, but now it is POSSIBLE.  


Gene-based diagnostics and Stem cell-based therapeutics are key components for providing a cure for Wolfram syndrome, Type 1 diabetes, and other chronic conditions. We should keep on moving forward.

Thank you for reading this blog. I hope you have a wonderful Friday. Kindly, Fumi Urano

Thursday, October 9, 2014

NIH funds research collaborations of 22 physician-scientists to study rare diseases

I read the news about the NIH's initiative for supporting rare disease research. NIH will fund physician scientists at 22 consortia to investigate new treatments for patients with rare diseases. This is great news.
http://www.nih.gov/news/health/oct2014/ncats-08.htm
To be part of it, we need to develop a common theme weaving through different rare diseases. I think that our common theme would be "endoplasmic reticulum disease." I will look for other diseases related to endoplasmic reticulum dysfunction to create a new research program. I believe this will help us develop treatments for Wolfram syndrome and Wolfram-related disorders.

Thank you for reading this blog. I hope you have a wonderful Thursday. Take care, Fumi Urano

Wednesday, October 8, 2014

Center of Regenerative Medicine

I attended a meeting of our newly-formed "Center of Regenerative Medicine" yesterday.
As I mentioned in my previous blogs, it would be essential to develop stem cell-based therapies for a cure for Wolfram syndrome, Type 1 diabetes, and other chronic disorders. Our new center is a wonderful platform for us to collaborate with other researchers who are interested in developing regenerative therapies.

Thank for reading this blog. I hope you have a wonderful Wednesday. Fondly, Fumi Urano

Tuesday, October 7, 2014

Dominant allele? Is it a key?

What is "allele"? An allele is an alternative form of a gene that is located at a specific position on a specific chromosome. We have two alleles for each trait. Wolfram syndrome is an autosomal recessive disease. This means most patients have two pathogenic alleles. We have recently found patients who only have one pathogenic allele. This allele is called "dominant." I feel that this allele may be a key to understand the mechanisms of Wolfram syndrome.

Thank you for reading this blog. I understand that this one is a little difficult for lay people. I just wanted to share my thoughts. I welcome any feedback. Take care, Fumi Urano

Monday, October 6, 2014

Drug Repurposing

One of our current options for the development of new therapeutics for Wolfram syndrome is  “drug repurposing.” What is "drug repurposing"? Drug repurposing is the application of known drugs to new diseases. We can save a lot of money and time with this approach. Dr. Freda Lewis-Hall, Chief Medical Officer at Pfizer, discusses this strategy in the following video (39 seconds). 
https://www.youtube.com/watch?v=LRFhWqEULgI

Thank you for reading this blog. I hope you will have a wonderful Monday. I feel that something wonderful is going to happen to us this week. With confidence, Fumi Urano

Sunday, October 5, 2014

Q&A

I receive many questions related to Wolfram syndrome and other medical conditions. Here are some of them. Please feel free to contact me if you have any questions.
Q: What is diabetes insipidus?

A: Diabetes insipidus is one of the common symptoms in patients with Wolfram syndrome. It is defined as the passage of large volumes of dilute urine. It has the 2 major forms, and patients with Wolfram have the central diabetes insipidus.


1. Central (neurogenic, pituitary, or neurohypophyseal): characterized by decreased secretion of antidiuretic hormone called vasopressin.

2. Nephrogenic: characterized by decreased ability to concentrate urine because of resistance to vasopressin action in the kidney.

Q: What is optic atrophy? Is it different from retinopathy? Is there any treatment?


A: The mechanisms of vision impairment in Wolfram syndrome and type 1 diabetes are different. In short, the vision impairment in type 1 diabetes is a problem in small blood vessels supplying nutrition to the eyes. It is caused by high blood sugar levels and called retinopathy.


The vision impairment in Wolfram syndrome is a problem in neuronal cells in the eyes transferring the electrical signal produced in the eye to the brain. It is caused by neuronal cell death and called optic atrophy.


There is currently no treatment for optic atrophy. One of the major neuronal cells in the eyes declining in Wolfram syndrome are “retinal ganglion cells” which transmit electrical signals to the brain. If we can make these cells and transplant them to Wolfram patients, we can possibly treat blindness or improve eyesight. To accomplish this, we need a source for new retinal ganglion cells. I believe that induced pluripotent stem cells (iPSCs) is the source for the new retinal ganglion cells.


Q: “Is there any relationship between diabetes and optic nerve atrophy?”


A: This question implies a few different things. Here are my answers. 

1. Type 1 Diabetes
I believe that there is no direct relationship between type 1 diabetes and optic atrophy. Type 1 diabetes is an autoimmune disease. Our immune cells attack antigens highly expressed in pancreatic β cells in type 1 diabetes. These autoimmune cells usually do not attack optic nerve although patients with type 1 diabetes are susceptible to other autoimmune diseases. As I mentioned in my previous blog, patients with type 1 diabetes may develop retinopathy if there blood sugar levels are not properly controlled.

2. Wolfram syndrome

In Wolfram syndrome, there is probably a direct relationship between diabetes and optic nerve atrophy. Both pancreatic β cells and optic nerve are susceptible to endoplasmic reticulum dysfunction. So β cell death and death of retinal ganglion cells  have the same etiology, i.e. ER dysfunction.

3. Do all patients with Wolfram syndrome have diabetes and optic nerve atrophy?


The answer is, “No.” In most cases, diabetes is the first manifestation of Wolfram syndrome, followed by optic atrophy. However, there are some patients who develop optic atrophy first and don’t develop diabetes for a long period of time. I know one patient with Wolfram whose diabetes was diagnosed at 40 years old. I don’t know why, but it seems like these patients tend to have milder symptoms. I am very interested in carefully studying these patients because I may be able to find a way to delay the progression of Wolfram through these patients. This effort is underway (i.e., modifying my human study protocol).

Q: What can you do to improve "neurogenic bladder" ?


A: Many patients with Wolfram syndrome experience neurogenic bladder. I always recommend that a patient consult with a urologist if he/she has a problem in urination. Here are my thoughts.


1. What is neurogenic bladder?

Our urination is regulated by two types of muscles in the bladder. These are the detrusor muscle and sphincter muscle. When we urinate, the detrusor muscle pushes out the urine and the sphincter muscle relaxes to open up the way out. These muscles are controlled by a part of the brain and neuronal cells connected to the bladder. Neurogenic bladder is a term applied to dysfunction of the bladder due to dysfunction of a part of brain and neuronal cells. In short, this is a problem in neuronal cells.

2. What can you do?

I always recommend that a patient see a urologist to determine the status of neurogenic bladder and get advice.

3. Our progress


As I mentioned in my previous blog, our recent progress strongly suggests that neuronal cell dysfunction in Wolfram syndrome is caused by dysregulation of cellular calcium homeostasis. We are developing a treatment to manipulate the calcium homeostasis in patients' cells using a drug, and making significant progress. I hope that my strategy will work out.


Q: What are electrolytes and sodium? 

A: Electrolytes are "salts" in our blood and cellular fluids. The difference between the concentrations of these salts inside and outside the cells regulates the contraction of muscle cells and the signal transduction in brain cells (neurons). Sodium is the major salt outside the cells. The reference range for serum sodium is 135-145 mmol/L.


It seems like some patients with Wolfram syndrome experience "low sodium." Our body regulates sodium levels by balancing water in the body with use of antidiuretic hormone. DDAVP is often prescribed for patients with Wolfram syndrome because they tend to produce less antidiuretic hormone and produce excess amount of urine. DDAVP is a synthetic antidiuretic hormone, regulates the body's retention of water, and decreases the volume of urine. The challenge for Wolfram patients is that they tend to have bladder problems and may need to go to bathroom often. This is not because of the excess production of urine, but they may increase the dose of DDAVP, which increases the body's retention of water and may lead to low sodium levels. As our colleague Dr. Marshall recommends, Wolfram patients should consult with their endocrinologists if they feel their serum sodium levels are low.



In addition, serum sodium levels may not be reliable when patients have poor renal functions or have severe hyperglycemia.

Saturday, October 4, 2014

Raise Awareness Today

The Jack and JT Snow Research Foundation has been helping us raise awareness and develop therapeutics for Wolfram syndrome. Recently, the Snow Foundation created a nice cartoon summarizing the potential manifestations of Wolfram syndrome. This is helpful and I am grateful for their sincere and continued efforts.
http://thesnowfoundation.org/research/

I hope you will have a wonderful weekend and enjoy the beginning of the fall season. Take care, Fumi Urano

Friday, October 3, 2014

Upstream and Downstream

My mentor, Dr. Aldo Rossini, often told me about "upstream" and "downstream" in medicine. "Upstream" means our efforts on developing new treatment for our patients. Downstream means our efforts on managing our patients. Both are important, and I keep on doing my my best for both.

Thank you for reading this blog. I hope you will have a fabulous Friday. Kindly, Fumi Urano
from Aldo Rossini, MD

Thursday, October 2, 2014

Raise Awareness

Many people help us raise awareness of Wolfram syndrome. If you know Type 1 diabetes patients who have other unusual symptoms such as optic nerve atrophy, please contact us. They may have Wolfram or other unusual forms of diabetes. They may need different treatments.
One of the major challenges for physicians is to provide answers to patients with mysterious conditions that have long eluded diagnosis. Patients suffer from mysterious conditions without diagnosis and effective treatments. Many of our Wolfram patients experienced this. So we need to keep on raising awareness of Wolfram syndrome and other rare genetic diseases. Please help us spread the word.

Thank you for reading this blog. I am sending kind thoughts toward you. Take care, Fumi Urano

Wednesday, October 1, 2014

Share our experiences - Blogs of our patients

I am always impressed by our patients. Many of them are always positive although they are facing the major challenge. I learn from them and grow with them. I am  trying to help them. In reality, they help me keep on going and encourage me all the time. To achieve a cure, we need to help each other. I hope you read their blogs. You will learn something from them.
http://thesnowfoundation.org/blog/

I feel that we are all connected. Thank you for reading my blog. I hope you will have a wonderful day today. Warmest regards, Fumi Urano

Tuesday, September 30, 2014

Soluble factors for regenerative medicine 3

I received another question regarding my blog of September 26, 2014.
http://wolframsyndrome.blogspot.com/2014/09/soluble-factors.html

How does MANF confer protection against ER stress-mediated cell death and stimulate proliferation of beta cells and neurons?
We are still looking for an answer. It seems like that MANF binds to another molecule in our cells and activate enzymes important for cell survival. So our strategy is to manipulate this process using a small molecule (i.e., a drug). This is aligned with our strategy #2.
http://wolframsyndrome.blogspot.com/2014/07/three-step-formula-to-provide-cure-for.html?spref=tw

Thank you for reading this blog. I hope you will have a wonderful day. Take care, Fumi Urano

Monday, September 29, 2014

Looking for disease-modifying loci to identify new drug targets

We are looking for disease modifying loci for Wolfram syndrome to identify new drug targets.  What are disease modifying loci? These are the genes that may play a role in delaying or accelerating the progression of the disease. In addition to WFS1 or WFS2, it seems like there are genes affecting the manifestations of the disease. If we can identify these genes, we may be able to target the products of these genes to delay the progression. So we are searching for these genes.

Thank you for reading this blog. I hope you will have a wonderful week. I am sending kind thoughts toward you. Warmly, Fumi Urano

Sunday, September 28, 2014

Soluble factors for regenerative medicine 2

I received several questions related to my blog of September 26, 2014.
http://wolframsyndrome.blogspot.com/2014/09/soluble-factors.html

How can we utilize MANF, a natural soluble factor produced in our body, to protect and proliferate remaining beta cells and neurons? 
The key is to understand how MANF simulates the proliferation and enhances the function of remaining tissues. It seems like there are two independent mechanisms. There are two different mediators for MANF in our body. Thus, our goal is to develop two different types of small molecules to enhance the functions of endogenous MANF. Another option is to inject recombinant MANF. Because of several scientific reasons, we prefer small molecules at the moment.

Thank you for reading this blog. I hope you will have a wonderful and beautiful Sunday. Please feel free to contact me if you have any questions. I am here for you. Take care, Fumi Urano

Saturday, September 27, 2014

Share our experiences

I keep on figuring out how to delay the progression and provide a cure for patients with Wolfram syndrome. In parallel, I keep on thinking about how we can improve the quality of life of our patients. One of the possibilities is to create a planform where patients can share their experiences. There are multiple non-profit and for-profit organizations working on this. Patients-like-me is one of them. 
http://www.patientslikeme.com/

I am willing to donate our data from our patients to this type of organization. Of course, the data should be de-identified. If it is difficult to do it because of all the regulations, I am willing to help people create such a platform. By connecting each other, we would feel empowered, I think.

Thank you for reading this blog. I hope you will have a wonderful weekend. Kindly, Fumi Urano

Friday, September 26, 2014

Soluble factors for regenerative medicine

We are looking for soluble factors in our body that can enhance the regeneration of damaged tissues in Wolfram syndrome and Type 1 diabetes. We have discovered two molecules so far. One of them is MANF. 

We are trying to produce a large amount of these factors in the dish (recombinant proteins) and give these factors to animal models and cell models. We are also looking for methods/small molecules (i.e., drugs) to enhance the functions of these factors. This strategy is also related to "regenerative therapy", but independent of stem cells.

Thank you for reading this. I hope you will have a wonderful Friday. Warmly, Fumi Urano

Thursday, September 25, 2014

Alleviate cell stress in Wolfram syndrome

Currently we are focusing on manipulating cellular calcium (ER calcium) homeostasis using small molecules (i.e., drugs) to delay the progression of Wolfram syndrome. In addition, I want to take another strategy, which is to alleviate cell stress using chemical chaperones. Chemical chaperones are small molecules that can reduce ER stress by stabilizing defective cellular proteins. It is a "crutch" for defective Wolfram proteins in patients with Wolfram syndrome. We may want to combine this strategy with our current strategy.

I hope you will have a wonderful day. Take care, Fumi Urano


Wednesday, September 24, 2014

Beta cells, eye cells, and brain cells

In Wolfram syndrome, some cells are sensitive to the loss of function of Wolfram gene. These are insulin-producing pancreatic beta cells, some brain cells, and some eye cells. Why are these cells are sensitive? This is the key to provide a cure for Wolfram syndrome. If we know why these cells are sensitive, we can design a therapy for protecting these cells. In the past 24 months, we discovered that loss of function of Wolfram gene causes dysregulated calcium homeostasis in our cells. So we are trying to manipulate calcium homeostasis by drugs to delay the progression. We still don't know why these cells are sensitive to dysregulated calcium homeostasis. I keep on thinking.

Thank you for reading this blog. I hope that I will receive the key soon. Warmly, Fumi Urano


Tuesday, September 23, 2014

Dr. Perlmutter's strategy

Dr. Roger Perlmutter joined Merck just 18 months ago and has significantly improved the company’s record of getting drugs through the FDA. Why? I think we should learn from his success. He focuses on the most important thing that they can do and that will have the biggest benefit for patients. "The Biggest Benefit for Patients." I will keep on focusing on the biggest benefit for patients.
https://en.wikipedia.org/wiki/Roger_M._Perlmutter

Thank you for reading this. I hope you will have a wonderful day. Warmly, Fumi Urano

Monday, September 22, 2014

An anti-cancer drug for Diabetic Retinopathy?

I have been testing the possibility that existing drugs for other disorders may be beneficial for Wolfram syndrome patients. This is called "drug repurposing." This is not an crazy idea. For example, avastin which is licensed to treat various cancers is beneficial for patients with age-related macular degeneration (AMD) and diabetic retinopathy. Until we develop a drug specifically designed for Wolfram syndrome, I will keep on testing existing drugs.

Thank you for reading this blog. I am sending kind thoughts toward you. Take care, Fumi

Sunday, September 21, 2014

Charity Road Trip 2014 Wolfram Syndrome UK - PASSION&HOPE

The charity road trip 2014 in aid of Wolfram syndrome UK was successful! They have delivered the last of the information packs to the Hospital of Sick children Edinburgh.
https://www.facebook.com/NSHBWS
https://www.facebook.com/pages/Wolfram-Syndrome-UK-DIDMOAD/174039922735501

Thank you again, Jennifer, Tracy and Paul Lynch, Alan Nye, and their team. I could feel your PASSION and HOPE. I am very proud of you and your team. I look forward to meeting with you soon.

I feel grateful today. Thank you again for reading this blog. I hope you will have a wonderful Sunday. Take care, Fumi

Saturday, September 20, 2014

Charity Road Trip 2014 Wolfram Syndrome UK - Day 2!

The charity road trip 2014 in aid of Wolfram syndrome UK is ongoing! You can follow their progress at twitter and FB. Let's support them!
https://www.facebook.com/NSHBWS
https://www.facebook.com/pages/Wolfram-Syndrome-UK-DIDMOAD/174039922735501
Thank you again, Jennifer, Tracy and Paul Lynch, Alan Nye, and their team.

I hope you will have a wonderful weekend.

Friday, September 19, 2014

Charity Road Trip 2014 in aid of Wolfram Syndrome UK - Let's follow

The charity road trip 2014 in aid of Wolfram syndrome UK has started. For WS UK's National Awareness Campaign, Paul Lynch and Alan Nye are personally delivering Important Medical Information to all 25 Major Children's Hospitals in the UK in less than 60 hours.
https://www.facebook.com/NSHBWS
https://www.facebook.com/pages/Wolfram-Syndrome-UK-DIDMOAD/174039922735501

Thank you for your efforts, Jennifer, Tracy and Paul Lynch, Alan Nye, and their team. I cannot thank you enough. Thank you, Thank you, Thank you.

Thursday, September 18, 2014

Bringing our new therapies to patients - Clinical and Translational Sciences

I am trying to bring our new therapies to patients. As you can imagine, there are multiple steps to achieve it. Our medical center has the Institute for Clinical and Translational Sciences and they have been helping us make this happen. Our institute is supported by NIH. The institute is led by Dr. Bradley Evanoff and Dr. Kelle Moley. They have been supportive and offering us wonderful opportunities. I always appreciate their continuous support and encouragement.

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

Wednesday, September 17, 2014

A stem cell-based therapy for diabetes

A new article on a stem cell-based therapy for diabetes has been just published. With this method, we can make insulin-producing cells in 15 days. This is incredible.
http://www.ncbi.nlm.nih.gov/pubmed/25211370

In Type 1 Diabetes, we still need to find a way to avoid autoimmunity. In Wolfram syndrome, we need to modify the WFS1 gene locus in skin cell-derived stem cells. However, I feel that a cure for diabetes is approaching. We should keep on developing new therapy to provide a cure for patients suffering from challenging conditions. I would like to thank Dr. Kieffer's team and Dr. Johnson's team for developing this new method.

Thank you again for reading this blog. Thank you for your continuous support and encouragement. Thank you, Thank you, Thank you. Take care, Fumi

Tuesday, September 16, 2014

Stem cell research and Missouri Cures

I had a productive conversation with an executive director of Missouri Cures, a non-profit organization promoting stem cell research in Missouri. I had a chance to explain our strategy to provide a cure for Wolfram using induced pluripotent stem cells derived from skin cells of patients. They will help us raise awareness of Wolfram and develop novel therapeutics using iPS cells. Please stay tuned.
http://missouricures.net/

I feel so grateful that many people are now helping us develop therapeutics for Wolfram syndrome. Thank you, Thank you, Thank you. I hope you will have a wonderful day today.

Monday, September 15, 2014

Patient Support Groups in the World-UK

I always appreciate the efforts of patient support groups. I have been communicating with the Wolfram Syndrome UK in England
http://www.wolframsyndrome.co.uk/#
They will have an important event this weekend. They will deliver much needed information about Wolfram syndrome to medical professionals in 25 major children's hospitals over the weekend in less than 60 hours! Tracy and Paul Lynch are busy preparing for the event.
http://www.charityroadtrip.co.uk/2014-roadtrip-challenge

Thank you again for your sincere efforts, Tracy, Paul, and Alan Nye. Thank you, Thank you, Thank you. I hope you will have a wonderful week.

Sunday, September 14, 2014

A stem cell-based therapy for restoring vision

A revolutionary surgery was performed last week by Dr. Masayo Takahashi's group in Kobe, Japan. Dr. Takahashi's team created retinal cells using skin cells of a patient with macular degeneration and transplanted them back to the patient.
http://the-japan-news.com/news/article/0001564776

Here is a summary of their new therapy to restore vision
1. Collect skin cells from a patient.
2. Create induced pluripotent stem cells (iPS cells) from skin cells of the patient.
3. Differentiate iPS cells into retinal cells.
4. Transplant these retinal cells back to the patient.

We still don't know if this patient's vision will improve. However, this is an important step toward a cure for blindness. Our team is taking a similar strategy, and I hope that we can create multiple types of retinal cells and transplant them back to our patients.

I was very encouraged by the news. I am hopeful. Thank you for reading this blog. I hope you will have a wonderful Sunday.

Saturday, September 13, 2014

Patient Support Groups

Patient support groups have been helping us a lot. The Worldwide Society of Wolfram syndrome was established by Mr. Robert Birkinshaw. It was taken over by Mr. Kip Branch and Mrs. Pat Gibilisco is currently running the program. The Jack and JT Snow Foundation and The Ellie White Foundation have been helping our team's research toward a cure for Wolfram syndrome. I always appreciate their sincere efforts.
http://www.didmoad.org/

I hope you will share the following video created by the Jack and JT Snow Foundation. I hope you will help us spread the word. http://vimeo.com/82103685

Thank you again. I feel grateful. I will talk about a new therapy for providing a cure for blindness later today. http://the-japan-news.com/news/article/0001564776

I hope you will have a wonderful weekend. Take care, Fumi

Friday, September 12, 2014

Breaking News: World’s 1st iPS transplant performed

World’s 1st iPS transplant was just performed. We should follow their path. I will tell you more about this tomorrow.
http://the-japan-news.com/news/article/0001564776

Thank you for reading this. I hope you will have a wonderful weekend. Take care, Fumi

Thank you, Mr. Branch

Mr. Kip Branch is traveling in England. He is the founder of the Worldwide Society of the Wolfram Syndrome Families. He met our collaborator, Dr. Tim Barrett, yesterday. 
https://www.facebook.com/fumihiko.urano/posts/10201836302188606
He has been helping us raise awareness Wolfram syndrome. Thank you for your sincere efforts, Kip.
http://www.didmoad.org/

Thursday, September 11, 2014

Brave Patients. Thank you, Thank you, Thank you.

I am always interested in a new therapy, especially non-invasive ones. My good friend at the medical center, Dr. Phil Cuculich, developed a new therapy for atrial fibrillation, a common heart disease, that can potentially cause a stroke. His new therapy and a patient he saved were reported in the Fox News recently. The patient was brave and shared his story with the public. I would like to thank both Dr. Cuculich and his patient.

Many of our Wolfram syndrome patients are brave like Phil's patient. They share their experiences in the public, which raises awareness of the disease. I cannot thank you enough. Thank you, Thank you, Thank you. I keep on moving forward to bring a new therapy to them like Dr. Cuculich.
http://thesnowfoundation.org/about-us/the-heroes-of-wolfram-syndrome/

Wednesday, September 10, 2014

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.

Tuesday, September 9, 2014

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.