Skip Therapeutics is teaming up with the Sheba Medical Center in Israel to develop antisense oligonucleotides (ASOs), a…
Articles by Margarida Maia, PhD
Exome sequencing, a method to decode DNA, may be useful for screening for mutations — including ones in the DDC…
In a new collaboration, Novo Nordisk plans to explore Life Edit Therapeutics’ innovative gene-editing technology for the treatment…
The National Organization for Rare Disorders (NORD) is seeking to address health disparities in the rare disease community in…
The misdiagnosis and delayed diagnosis of AADC deficiency is common and can prevent patients from getting timely access to…
The 10th annual Rare Disease Genomics Symposium, hosted by the University of Alabama at Birmingham (UAB), will showcase the…
A diagnosis of AADC deficiency is often delayed, leading to poor clinical outcomes, as reported for three children in Saudi…
Genomenon, an artificial intelligence (AI)-driven genomics company, is teaming up with three disease research foundations to develop comprehensive genomic…
Global Genes and the Rare Disease Diversity Coalition (RDDC) have launched Know Your Family History,…