Author name: tbrsadm

UK study on COVID-19 seeks rare disease participants

The CoIN study is looking into how the coronavirus pandemic is affecting the lives of children with rare diseases living in the UK. The researchers are seeking participation from kids up to age 16 who have a rare genetic disease or neurodevelopmental disorder.

The initial survey should take about 40 minutes, and monthly updates afterward should take about 15 minutes. According to the study website, “responses will be rapidly fed back to charities and support organisations, and used to identify and provide better ways of supporting you both now and in the future.”

Click here to read more and to join the study.

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Research opportunity to share pandemic’s effects

The Rare Diseases Clinical Research Network, which is funded by the US National Institutes of Health, is gathering information from individuals with rare diseases or their caregivers about their care and well-being during the coronavirus pandemic. The survey, which should take about 20 minutes to complete, asks questions about access to care, whether the participant has been diagnosed with COVID-19, and other topics.

The researchers would like to get 5,000 people to participate and the study is open to individuals up to 89 years old living in the US.

Click here to begin the survey and read more about it here.

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New study on function of DNMT3A variant

Researchers at the University of California, Riverside, have examined the function of a particular mutation in the DNMT3A gene called R882H. This variant is a common driver of acute myeloid leukemia in people who do not have TBRS, and some individuals with TBRS have this same genetic sequence. The scientists found that the R882H variant reduces the activity of the DNMT3A protein and also causes it to behave abnormally.

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TBRS Community Exercise Challenge

TBRS kids and adults raise $11,500 while gaining some good exercise habits and confidence in their abilities!

Category:      Event
Location:    Anywhere
Date:         04/01/20 – 04/30/20
Duration:        1 Days
Time:           12:00 AM – 3:00 PM (EST)

Click to view images

The Tatton Brown Rahman Syndrome Community Exercise Challenge began with Ashley Hatton from Manassas, Virginia. While attending the TBRS Conference in New York last fall, Ashley saw a “fundraising tree.” There were tags on the tree and unbeknownst to her mom, Ashley removed a tag and then later in the day showed it to her mom. The tag was for a “walk.” That began a long process of debate within her mom as to how she would make this happen. How could Ashley’s mom step up to the challenge that Ashley presented her? So after careful thought and deliberation, an idea was born. Could a walk-a-thon or some other type of exercise challenge be set up where the TBRS kids and adults could participate and challenge others to join? Ashley’s mom received help and support from Jill Kiernan, Kacee Richter, and the TBRS Fundraising Committee.

So the TBRS Challenge was born. Beginning in March, the participants registered and began obtaining sponsors, and on April 1 – April 30, 2020, TBRS kids/adults and siblings began their individual challenges. The goal for the challenge was to engage as many TBRS kids and adults to participate and to raise $1,000. Ashley, with the help of her Life Coach, Andre, and her mom, created videos to motivate and inspire participants. Each participant exercised the whole month, walking, hiking, riding bikes, shooting hoops, etc. Covid-19 did play a role as some participants wanted to swim but pools were closed. Covid-19 did not stop the participants from making adjustments and so they challenged themselves in different ways.

As a result, the TBRS participants raised more than $11,500 for their community. How inspiring is that!!!!! These kids and adults rose to the occasion and they showed how amazing and awesome they are. These participants showed enthusiasm, strength, encouragement for each other, and a willingness to work for their cause while also gaining some good exercise habits and confidence in their abilities.

A big thank you to the TBRS Challenge participants: Ashley Hatton, Morgan Rooker, Peyton Koblizka, Ayden Isaacs, Lucas and Owen Richter, Aevary Kiernan, Timmy Bahadi, Andrew Skattum, Layla Brown, Damion van den Berg, and Joshua Skattum.

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Tin Roof BBQ 2020 Rare Disease Day Celebration

Day of Celebration, Awareness and Fundraising for Rare Disease Day and TBRS Community at Tin Roof BBQ!

Category:      Event
Location:    Texas
Date:           02/29/20 – 02/29/20
Duration:        1 Days
Time:              7:00 PM – 3:00  AM (EST)

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The main objective of Rare Disease Day is to raise awareness with policy makers and the public of rare diseases and their impact on the lives of patients and their families. The owners of Tin Roof BBQ‘s grandson, Lucas, was diagnosed with Tatton Brown Rahman Syndrome in March 2017. To bring awareness to Rare Disease Day and TBRS Community, Tin Roof BBQ celebrated the day all day! Tin Roof Loves & Supports All! A portion of the Full Day Sales was donated to TBRS Community. In addition to bringing awareness to Tatton Brown Rahman Syndrome, Adam Parsons, a beloved person with TBRS, was honored as he passed away in July 2019.

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