Publication: cureus.com | Publication Date: October 3, 2023
Authors: Carvalho M M, Jesus R, Mendes A, et al.
Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Read more
Publication: rarediseases.org | Publication Date: September 23, 2020
Authors: Hershey, T., Marshall, B., & May, J.
Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Read more
Publication: nature.com | Publication Date: March 6, 2018
Authors: Benjamin Delprat, Tangui Maurice & Cécile Delettre
Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. Read more
Publication: undergradsciencejournals.okstate.edu | Publication Date: 2021
Authors: Olivia Tolbert
With advancements in treatments for Wolfram syndrome come new ways to possibly treat or further understand other degenerative diseases such as Alzheimer’s and Parkinson’s. There are multiple forms of treatments being devised, one path is to limit the frequency of cell death and halt further symptoms the other to prevent or replace the mutated cells. Read more
Publication: nature.com | Publication Date: July 2, 2019
Authors: Luciana Rigoli, Concetta Aloi, Alessandro Salina, Chiara Di Bella, Giuseppina Salzano, Rosario Caruso, Emanuela Mazzon, Mohamad Maghnie, Giuseppa Patti, Giuseppe D’Annunzio & Fortunato Lombardo
We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations. Read more
Publication: pubmed.ncbi.nlm.nih.gov | Publication Date: July 16, 2018
Authors: Vikas Bansal, Bernhard O Boehm, Ariel Darvasi
Aims/hypothesis: Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the WFS1 gene. In a recent sequencing study, an individual with juvenile-onset diabetes was observed to be homozygous for a rare missense variant (c.1672C>T, p.R558C) in the WFS1 gene. Read more
Publication: journals.plos.org | Publication Date: January 6, 2009
Authors: Chihiro Kakiuchi,Shinsuke Ishigaki,Christine M. Oslowski,Sonya G. Fonseca,Tadafumi Kato & Fumihiko Urano
Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear. It has been suggested that the action of valproate is linked to changes in gene expression and induction of endoplasmic reticulum (ER) stress-response proteins. Read more
Publication: endocrine-abstracts.org | Publication Date: September 09, 2020
Authors: Mouna Sghir, Soumaya Elarem, Wafa Said, Aymen Haj Salah, Baha Zantour & Wassia Kessomtini
Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness. Read more
Publication: endocrinology.wustl.edu | Publication Date: June 10, 2022
Authors: Morikawa, S., Blacher, L., Onwumere, C., & Urano F.
On March 25, Fumihiko Urano, MD, PhD and colleagues had their research titled “Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells,” published in “Frontiers in Endocrinology.” Read more
Publication: science.org | Publication Date: February 11, 2021
Authors: Mitch Leslie
A Revealing Flaw: A rare disease that cripples a key cellular organelle holds clues to treating more common conditions.
Maureen Marshall-Doss says the first sign that her vision was deteriorating came when she misidentified the color of a dress. At a backyard get-together about 20 years ago, the Indianapolis resident pointed out an attractive yellow dress another woman was wearing. “You see that as yellow? She’s wearing a pink dress,” Marshall-Doss recalls her husband responding. Read more
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.
P.O. Box 50224
Clayton, MO 63105
(636) 448-4134