Penn Study of Rare Disease Sheds Light on More Common Ones & More — This Week in RARE Daily

June 7, 2024

This Week in RARE Daily is a feature from Global Genes where you can get a quick rundown of the top 5 headlines in the rare disease space from our editorial staff. Here are top stories from this past week, May 31 – June 6, 2024:

Penn Study of Rare Disease Sheds Light on More Common Ones

A new study that unlocks the mechanism of Retinal vasculopathy with cerebral leukoencephalopathy has implications for more common ailments such as breast cancer with the BRCA1 and BRCA2 genes.

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Mayo Clinic Reanalysis Technology Helps Move Undiagnosed to Diagnosed

Researchers at the Mayo Clinic Center for Individualized Medicine said a semi-automated system to rapidly reanalyze unresolved rare disease cases has led to a probable diagnosis for a number of patients.

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SCD Foundation Enters Digital Health Collaboration with FDA to Bridge Health Care Gaps

The Sickle Cell Disease Foundation entered a research collaboration with the U.S. Food and Drug Administration’s Center for Devices and Radiological Health to develop best practices for the safe and effective use of artificial intelligence and machine learning systems and digitally-derived measures that matter to patients.

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FDA Rounds out START Program with Addition of Moderna and Myrtelle

The FDA selected Mytelle’s experimental gene therapy for Canavan disease and Moderna’s experimental mRNA therapy for methylmalonic acidemia as the final participants in its Support for Clinical Trials Advancing Rare Disease Therapeutics or START pilot program.

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QurAlis Grants Lilly Exclusive Global License for Preclinical ASO for Neurodegenerative Diseases

QurAlis entered into an exclusive license agreement with Eli Lilly in which it granted Lilly global rights to develop and commercialize QRL-204, a potentially best-in-class splice-switching antisense oligonucleotide designed to restore function of the UNC13A gene in amyotrophic lateral sclerosis, frontotemporal dementia, and other neurodegenerative diseases.

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