Dr. Urano’s Lab


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Welcome to the Urano lab website at the Washington University School of Medicine. The ultimate goal of our research is to find a cure for Wolfram syndrome, a genetic form of diabetes, and type 1 diabetes.

Wolfram syndrome is a rare autosomal recessive genetic disorder with clinical signs apparent in early childhood. This condition is characterized by juvenile-onset diabetes, optic nerve atrophy, deafness, diabetes insipidus and neurodegeneration, and it may result in death in middle adulthood.

Accumulating evidence in my laboratory strongly suggests that endoplasmic reticulum (ER) dysfunction is a critical pathogenic component of Wolfram syndrome. However, a complete understanding of the pathways and biomarkers involved in the disease process is still lacking. As a result, despite the underlying importance of ER dysfunction in Wolfram syndrome, there are currently no therapies that target the ER.

The goal of our laboratory is to reveal the molecular mechanisms of Wolfram syndrome and develop patient-based therapeutics for this complex disorder using genetic information from each patient and patient-derived induced pluripotent stem cells (iPSCs).

Growing evidence indicates that ER dysfunction is involved in rare genetics disorders, including Wolfram syndrome, as well as more common diseases such as type 1 and type 2 diabetes and Parkinson diseases. Thus, the potential public health implications of our research are considerable.

Wolfram syndrome is a rare autosomal recessive genetic disorder with clinical signs apparent in early childhood. This condition is characterized by juvenile-onset diabetes, optic nerve atrophy, deafness, diabetes insipidus and neurodegeneration, and it may result in death in middle adulthood.

Research Dr. Urano LabAccumulating evidence in my laboratory strongly suggests that endoplasmic reticulum (ER) dysfunction is a critical pathogenic component of Wolfram syndrome. However, a complete understanding of the pathways and biomarkers involved in the disease process is still lacking. As a result, despite the underlying importance of ER dysfunction in Wolfram syndrome, there are currently no therapies that target the ER.

The goal of our laboratory is to reveal the molecular mechanisms of Wolfram syndrome and develop patient-based therapeutics for this complex disorder using genetic information from each patient and patient-derived induced pluripotent stem cells (iPSCs).

Growing evidence indicates that ER dysfunction is involved in rare genetics disorders, including Wolfram syndrome, as well as more common diseases such as type 1 and type 2 diabetes and Parkinson diseases. Thus, the potential public health implications of our research are considerable.

Urano Lab Memebrs Summer 2013

Staff

Fumihiko Urano, MD, PhD, Principal Investigator

Cris Brown, BS, Research Lab Supervisor

Mai Kanekura, BS, Research Assistant

Fellows

Kohsuke Kanekura, MD, PhD, Post Doctoral Fellow

Jana Mahadevan, PhD, Post Doctoral Fellow

Stephen Stone, MD, Pediatric Endocrinology Fellow

Takuya Tagi, MD, PhD, Post Doctoral Fellow

Amy Clark, DO, Pediatric Endocrinology Fellow

Students

Simin Lu, PhD student

Damien Abreu, MD/PhD student

Ian Milligan, Summer MD student from Saint Louis University

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.

Reagents

Thank you for your interest in our work and reagents.
We make all possible efforts to make available all the published reagents generated in our lab.

We are distributing our plasmids through addgene, a non-profit organization in Cambridge, Massachusetts, U.S.A. Click button below to browse.

Find Urano Lab Plasmids

Thank you for your interest in our work and reagents.