The long-term outlook (prognosis) for people with Wolfram syndrome varies depending on the signs and symptoms present in each person. All the features that give Wolfram syndrome the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) are observed in 65% of people, while others only have some of the associated health problems. Most affected people develop diabetes mellitus and optic atrophy before age 15 years. Hearing loss is present in 64% of affected people by age 20 years and up to 72% will eventually develop diabetes insipidus. Wolfram syndrome may also be associated with a variety of other symptoms that can affect almost every part of the body.[7][2]
Wolfram syndrome is often fatal by mid-adulthood (average lifespan 30 years).
Washington University School of Medicine
Dear Wolfram Community,
Since the last newsletter, we have been very busy, both looking backwards to data from previous research clinics and looking forward to our 2019 research clinic.
Looking backwards, we submitted two papers for review based on previous research clinic data. One paper is on sleep disturbances in Wolfram syndrome, where we show that there is a high rate of sleep apnea based on the sleep monitoring we did during the 2015 and 2016 clinics. The second paper is based on our longitudinal neuroimaging data, and suggests that Wolfram syndrome affects the development of specific regions and tissue types in the brain, and ultimately degenerates others. From these data, we recommend the best measures for tracking neurodegeneration over time in clinical trials. We hope that these findings will help with clinical trial planning, with the development of more brain-targeted interventions, and will inspire other groups to investigate specific hypotheses about the mechanisms underlying these changes.
Looking forward, planning for next summer’s research clinic is underway! Samantha has been reserving rooms, Heather has reserved the MRI scanner and collaborators are blocking off their calendars. We our also testing our new MRI sequences to better measure changes in the optic nerve and in white matter across the brain.
Finally, the Snow Foundation is leading an effort, with which we are helping with, to obtain grant funding from the NIH to support a research and clinical symposium for families during the clinic. Stay tuned for details! Time will pass quickly, and before we know it, we will be greeting some of you in summery St. Louis!
Sincerely,
Tamara Hershey, PhD
Professor
Scientific Director and Principal Investigator WU Wolfram Research Clinic tammy@wustl.edu
DID YOU KNOW?
Wolfram syndrome is inherited in an autosomal recessive manner.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Adult Wolfram clinics are run from the Centre for Rare Diseases in the Heritage Building at The Queen Elizabeth Hospital, Birmingham and are taking place on the following days:
January 18th
March 29th
May 24th
July 19th
September 27th
November 29th
All dates are currently provisional
For more information please contact either Andrea Mitchell , or Tracy at WSUK.
The dates for the Children’s Clinics run from Waterfall House, the Rare Disease Centre at Birmingham Children’s Hospital are:
7th & 8th January
4th & 5th March
3rd & 4th June
7th & 8th October
DID YOU KNOW?
The two types of Wolfram syndrome (type 1 and type 2) are primarily differentiated by their genetic cause. Variations (mutations) in the WFS1 gene are responsible for about 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, a protein that is important for the proper functioning of the endoplasmic reticulum (the part of a cell that is involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is important for many different cellular functions. Mutations in WFS1 result in a defective form of wolframin that is unable to perform its normal role. This causes cells to trigger their own death (apoptosis). The death of cells in various organs and other parts of the body results in the signs and symptoms of Wolfram syndrome type 1.[1]
A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the mitochondria (the part of the cell where energy is produced). Mutations in CISD2 lead to the loss of mitochondria which decreases the amount of energy available to cells. Cells that do not have enough energy die. As in Wolfram syndrome type 1, the death of cells in different parts of the body results in the many health problems associated with Wolfram syndrome type 2.[1]
WASHINGTON UNIVERSITY’S
2019 WOLFRAM RESEARCH CLINIC UPDATE
Wait no more – the 2019 WU Wolfram Research Clinic planning is underway! We’re sure many of you have lots of questions and hopefully some of them will be answered here. If not, you can always contact Samantha directly. Her contact information is below.
Due to the number of participants enrolled in the clinic and an effort to make the clinic days more manageable, we will be dividing the clinic into two sessions. The official dates for the clinic are as follows:
Group 1 Arrival: Tuesday, 7/9/19
Clinic: Wednesday, 7/10/19 – Friday, 7/12/19
Group 2 Arrival: Sunday, 7/14/19
Clinic: Monday, 7/15/19 – Wednesday, 7/17/19
Scientific Session (TBD) Saturday, 7/13/19
Family Dinner TBD
We are still working out the details of the Scientific Session and the Family Dinner(s) and we will share that information with you as soon as it is finalized. Until then, these are the clinic dates. It is important at this time that you let Samantha know if you have a preference to attend as part of Group 1 or Group 2. Please keep in mind that another person or family cannot communicate your preference for you. Samantha must hear from you directly as to which session you’d like to attend. If you do not have a preference, that works too. You will then be assigned to a group once all preferences are in. The deadline for reserving your slot in a particular group is Jan. 31, 2019. That being said, it is important to get your preference in as soon as possible as we are trying to split the groups evenly which means that your preferred group could reach capacity prior to you stating your preference.
Need Help? For questions or requests regarding the Wolfram Syndrome Research Clinic please contact the WFS Research Clinic Coord., Samantha Ranck, MSW at 314.362.6514 or rancks@npg.wustl.edu
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