First Two Children Receive New Gene Therapy for Rett Syndrome
Neurogene Inc.
Phase 1/2 trial showed the safety and therapeutic potential of administering a novel transgene
Rare Disease
FDA Approves First Drug Therapy for Desmoid Tumors
U.S. Food and Drug Administration
The FDA granted the approval of Ogsiveo to SpringWorks Therapeutics Inc.
Gene Therapy to Treat Rare and Hereditary Diseases
Norwegian University of Science And Technology
Researchers are finding clues that may help treat rare and deadly diseases using mini-organs and advanced technology
Combination Therapy Improves Rare Brain Tumors in Children
Great Ormond Street Hospital
Trials showed the effect of combination therapy on survival and quality of life in children with low- and high-grade gliomas
FDA Approves Recombinant Enzyme to Treat Rare Blood Clotting Disorder
U.S. Food and Drug Administration
Adzynma safely and effectively “filled in” for the mutated ADAMTS13 enzyme in patients with cTTP
How Can Diverse Genomic Approaches Improve Rare Disease Research?
Tomi Pastinen, MD, PhD
Multiomic techniques can robustly screen and identify often-missed genetic determinants of rare diseases
Encaleret Restores Parathyroid Function in ADH1 Trial
Swathi Kodaikal, MSc
Some 3.9 in 100,000 people in the US are affected by ADH1, a major cause of nonsurgical hypoparathyroidism
FDA Approves New Therapeutic for Myelodysplastic Syndromes
U.S. Food and Drug Administration
Tibsovo can be used with FDA-approved companion diagnostic RealTime IDH1 Assay to detect and treat MDS
Blood Test to Detect Cancer Early in High-Risk Families
The Hospital for Sick Children
Liquid biopsies help extract and screen circulating tumor DNA for cancer-causing anomalies well in advance
AI-Powered Tool May Revolutionize Rare Disease Diagnosis
King Abdullah University of Science & Technology
Novel STARVar tool is freely available for researchers and clinicians worldwide