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Last Posted: Feb 02, 2023
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An automatic facial landmarking for children with rare diseases.
Quentin Hennocq et al. American journal of medical genetics. Part A 2023 1

Here, we developed a method for building an automatic landmarking pipeline for frontal and lateral facial photographs as well as photographs of external ears. We evaluated the algorithm on patients diagnosed with Treacher Collins (TC) syndrome as it is the most frequent mandibulofacial dysostosis in humans and is clinically recognizable although highly variable in severity.

As it turns 40, the Orphan Drug Act for rare diseases needs a refresh
ED Kakkis, Stat News, January 30, 2023

his month marks the 40th anniversary of the Orphan Drug Act. Since it was signed into law in 1983, the FDA has approved more than 1,100 treatments for rare diseases. The act also created an industry that didn’t exist in the United States before its enactment, enabling the formation of companies to develop and commercialize therapies for rare diseases.

We Screen Newborns Don’t We? Progress in DNA-based Population Screening
CDC Public Health Genomics Webinar, May 18, 2023, Brand

As part of 2023 Public Health Genetics and Genomics week, we review in this webinar the concept of population genomic screening for rare diseases beyond the newborn period, share research progress made in the last decade, and discuss the path forward to prepare the medical and public health communities for population-based genomic screening.

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."

Disclaimer: Articles listed in the Public Health Genomics and Precision 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.