Rare Disease Daily #18: 1q Duplication
T-MINUS 272 DAYS UNTIL RARE DISEASE DAY
The National Center for Advancing Translational Sciences describes 1q Duplication Syndrome as a chromosomal abnormality that happens when there is an extra copy of genetic material on the long arm (q) of chromosome 1. Symptoms include intellectual disability, short stature, craniofacial dysmorphism, cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
The prevalence of this disease is less than one in one million. It has been identified/diagnosed using comparative genomic hybridization (CGH) microarray, is a technique used to detect chromosomal copy number changes on a high-resolution scale.
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.
English and Spanish transcripts available at yannickmirko.com.
This was Rare Disease Daily #18, 1q Duplication Syndrome.
I’m yannick-robin. Thank you for your time.