News

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.

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.

The National Organization for Rare Disorders (NORD) has welcomed The TBRS Community as a member, joining 300 other patient organizations. NORD is a leading advocacy group for the rare disease community and provides funding for research, financial support for caregivers, and representation on Capitol Hill.

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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Simons Searchlight is looking for individuals with variants in the DNMT3A gene, which causes Tatton Brown Rahman Syndrome, to participate in its study on the genetic causes of autism. The study involves an online survey and phone call with a genetic counselor.

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