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Rare Disease

The Mount Sinai researchers trained AI models to quantify disease on a spectrum, offering more nuanced insight into how disease risk plays out in real life.

Mount Sinai Researchers Use AI and Lab Tests to Predict Genetic Disease Risk

Mount Sinai School of Medicine, Mount Sinai Hospital

AI model uses common data to gauge risk from rare genetic variants

One in a Million: A Nationwide Diagnostics Strategy for Ultrarare Diseases

Zahraa Chorghay, PhD

Leveraging integrated healthcare frameworks can significantly reduce diagnostic delays

Photo of several different blister packs of different-colored medications.

Enterprise Therapeutics Granted ‘Rare Pediatric Disease Designation’ in the US for Novel Cystic Fibrosis Investigational Therapy ETD001

Enterprise Therapeutics

ETD001 commenced Phase 2 clinical trials in July 2024, expected to complete in 2025

Photo of histology slide of chondroblastic osteosarcoma, a very rare cancer.

New Guidelines for Bone Cancer Biopsy

Michael Schubert, PhD

Two consortia have issued best practice recommendations for tissue sampling in osteosarcoma and Ewing sarcoma

Photo of a laboratory scientist at a lab bench wearing PPE pipetting into a tube to conduct an antibody test.

FDA Approves Labcorp Cell-Based CDx for Hemophilia Gene Therapy, BEQVEZ

LabCorp

The companion diagnostic will help bring clarity to hemophilia B patients considering BEQVEZ as a treatment option

Photo of a young Black female artificial intelligence engineer using a digital tablet while working in a dark computer server room.

Using AI to Improve Diagnosis of Rare Genetic Disorders

Baylor College of Medicine

Combining clinical lab expertise with highly curated datasets and automated technology has provided new insights for the most complex genetic conditions

3D illustration of an artery carrying red blood cells.

New Drug Slows Rare, Debilitating Genetic Disease in Trials

National Institutes of Health

The NIH-supported clinical trial could lead to the first effective treatment for ACDC disease

A young boy in a wheelchair looks back into the camera.

FDA Approves First Nonsteroidal Drug for DMD

U.S. Food and Drug Administration

The FDA granted the approval of Duvyzat™ to Italfarmaco S.p.A

3D illustration of a nerve cell with myelinated axons and dendrites.

Gene Therapy Improves Rare Neurodegenerative Disease in Trial

National Institutes of Health

Treatment for giant axonal neuropathy was well tolerated and slowed loss of motor function

3D-rendered image of a human neuron network with myelin sheath on a black background.

FDA Approves First Gene Therapy for Metachromatic Leukodystrophy

U.S. Food and Drug Administration

The FDA granted approval of Lenmeldy™ to Orchard Therapeutics