Exome sequencing of more than 54,000 individuals with epilepsy revealed genetic links
On Oct. 3, 2024, scientists announced the largest whole-exome sequencing study of epilepsy to date, with more than…
Artificial Intelligence | Biotechnology | Life Science News | Non-Profit Research | Rare Disease | Therapeutics
Researchers used AI to Repurpose Existing Drugs for Treatment of Rare Diseases
On Sept. 25, 2024, a study led by scientists at Harvard Medical School announced they had developed an…
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WHO verified Jordan as first country to eliminate leprosy
On Sept. 19, 2024, the World Health Organization (WHO) announced that Jordan had become the first country in…
The U.S. Senate declared May 16, 2012 as Hereditary Angioedema Awareness Day (HAE)
ON May 16, 2012, the U.S. Senate unanimously passed a resolution (S. Res. 286) recognizing May 16, 2012,…
Rare Disease Day (also known as an “orphan” disease) was established
On Feb. 28, 2008, Rare Disease Day (also known as an “orphan” disease), was established by the European…
David H Murdock donated $35 million to Duke University to fund the Measurement to Understand the Reclassification of Disease
On Sept. 24, 2007, David H. Murdock donated $35 million to Duke University to fund the Measurement to…
First gene therapy trial for patients with Hunter syndrome began at the University of Minnesota
On Oct. 25, 1996, the first gene therapy trial for patients with Hunter syndrome was begun at the…
Investigational drug regulations revised to expand access to experimental drugs for patients with no alternative therapies
In 1987, the U.S. Food and Drug Administration (FDA) announced revised regulations regarding Expanded Access (EA) to investigational…
The Orphan Drug Act was passed by the U.S. Congress
On Jan. 3, 1983, the Orphan Drug Act was passed by the U.S. Congress with the leadership of…