Medical Research Into Rare Diseases

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Rare Diseases Research and Resources | National …

https://ncats.nih.gov/rare-diseases

An NCATS-led study finds that the number of individuals with rare diseases and their medical costs have been underestimated, suggesting that nationwide health care costs associated with rare diseases are likely similar to common diseases such as …

Rare Diseases | National Institutes of Health (NIH)

https://www.nih.gov/about-nih/what-we-do/nih-turning-discovery-into-health/rare-diseases

Rare diseases were once considered medical curiosities with little public-health impact. But though such diseases are individually rare, collectively an estimated …

The Importance of Research on Rare Diseases

https://scicomm.plos.org/2020/03/11/the-importance-of-research-on-rare-diseases/

According to Elizabeth Burke, PhD, a postdoctoral fellow in the NIH Undiagnosed Diseases …

Rare diseases, common challenges | Nature Genetics

https://www.nature.com/articles/s41588-022-01037-8

GestaltMatcher defines a Clinical Face Phenotype Space based on over 17,000 photographs of patients representing more than 1,100 rare disorders. An …

NIH study suggests people with rare diseases face …

https://www.nih.gov/news-events/news-releases/nih-study-suggests-people-rare-diseases-face-significantly-higher-health-care-costs

A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three …

Why research into rare diseases matters | Novartis

https://www.novartis.com/stories/why-research-rare-diseases-matters

“In addition, research into rare diseases teaches us fundamental mechanisms of human biology and disease, often applicable to more prevalent …

Clinical Trials for Rare Diseases: Small but Mighty…and …

https://www.nhlbi.nih.gov/news/2018/clinical-trials-rare-diseases-small-mighty-and-needed

“NHLBI is committed to promoting, facilitating and funding basic and translational research, as well as well-designed clinical trials for rare diseases,” said …

Importance of Research into Rare Disease - News …

https://www.news-medical.net/health/Importance-of-Research-into-Rare-Disease.aspx

In 1970, two scientists, namely, Dr. Michael Brown and Dr. Joseph Goldstein, from the University of Texas Southwestern, conducted research on familial …

List of Rare Diseases | A-Z Database | NORD

https://rarediseases.org/rare-diseases/

A rare disorder is a disease or condition that affects fewer than 200,000 Americans. Cumulatively, there are more than 7,000 rare diseases affecting more than 30 million …

Rare Disease Research to Be Showcased at Virtual Event

https://medicine.buffalo.edu/news_and_events/news/2023/02/rare-disease-research-16729.html

The idea for the event started with Meagan Collins, a second-year trainee in the MD-PhD Program in the Jacobs School with a longstanding interest in rare …

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