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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Jan 24, 2023
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Public meeting: FDA Rare Disease Day 2023
FDA, January 2023

FDA will host Rare Disease Day, a virtual public meeting, on February 27, 2023, 9:00 am – 4:45 pm ET, in global observance of Rare Disease Week. This year’s theme is “Intersections with Rare Diseases – A patient focused event."

Rare Disease Day at NIH 2023
NIH, December 2022

Rare Disease Day takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Since 2011, NCATS and the NIH Clinical Center have sponsored Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.

In a first, children with rare genetic diseases get mitochondrial transplants from their mothers
M Molteni, Stat News, December 21, 2022

Mitochondrial deletion disorders, known as SLSMDs, usually manifest during the second decade of a child’s life as progressive, multisystem failures including hearing and vision loss, muscle weakness, gastrointestinal and cardiac issues, dementia, and early death. Currently, no cure exists. But in the last seven years, a group of researchers has been working on a potential treatment that takes advantage of mitochondria’s enduring capacity to slip between cellular life forms. It involves augmenting patients’ hematopoietic stem cells with healthy mitochondria donated by their mothers.

They Created a Drug for Susannah. What About Millions of Other Patients?
EC Hayden et al, NY Times, December 19, 2022

Scientists have made rapid progress in customizing drugs for ultrarare diseases. The hard part now is making such treatments on a large scale. Susannah was the first person to receive a drug designed to treat KIF1A-associated neurological disorder, or KAND, a progressive disease caused by genetic mutations that affect just 400 people in the world. In doing so, the young girl and her parents have found themselves on the edge of personalized medicine.

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.