3billion Reports Genetic Screening Results for Patients with Inherited Neuromuscular Disorders

• AI-powered WES identifies a wide range of rare neuromuscular disorders
• 47 of 203 tests yielded a genetic diagnosis, with results delivered in 14.5 days on average
• EASY NMD will continue and expand to improve access to timely diagnosis and treatment

SEOUL, South Korea, July 28, 2026 — 3billion announced that its EASY NMD genetic screening program has helped identify a range of rare genetic disorders in patients with suspected inherited neuromuscular disorders (NMDs), including spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), and Duchenne and Becker muscular dystrophy (DMD/BMD).

EASY NMD (EArly Screening to IdentifY potential NeuroMuscular Disorders) was launched last year to provide genetic screening for adult patients with suspected inherited neuromuscular disorders whose underlying cause remains unknown or who may have been misdiagnosed. Supported by Biogen Korea, the program is operated by 3billion, which also provides genetic analysis. It aims to support accurate diagnosis and timely access to appropriate treatment.

Inherited neuromuscular disorders (NMDs) comprise more than 1,000 conditions that can cause a wide range of symptoms, including muscle weakness, difficulty walking, and tremors. Because symptoms often overlap across disorders and clinical presentations vary considerably from patient to patient, reaching an accurate diagnosis can be challenging. As a result, patients may remain undiagnosed for years or receive an incorrect diagnosis.

To address these challenges, 3billion analyzes whole-exome sequencing (WES) data using its AI-powered genetic variant interpretation technology. To date, the company has completed 203 tests and established a genetic diagnosis in 47 cases. With an average turnaround time of 14.5 days, the program supports timely clinical decision-making and helps patients reach a diagnosis sooner.

The conditions identified through the program include a range of inherited neuromuscular disorders, such as spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), spinal and bulbar muscular atrophy (SBMA), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and Charcot–Marie–Tooth disease (CMT). When a genetic variant’s association with disease remains unclear, 3billion provides additional analysis and clinical interpretation to support physicians in reaching a diagnosis.

EASY NMD will continue throughout the year and expand its reach to help more patients with neuromuscular disorders receive early and accurate diagnoses and access appropriate treatment. The program also plans to increase participation among hospitals and clinics, with a particular focus on neurology and rehabilitation medicine departments that care for adults with neuromuscular disorders, while supporting more physicians in incorporating genetic testing into clinical practice.

“EASY NMD has demonstrated its ability to accelerate the diagnosis of a wide range of neuromuscular disorders and accurately distinguish among conditions with overlapping clinical presentations,” said Changwon Keum, CEO of 3billion. “We will continue working to shorten the diagnostic odyssey for patients with rare diseases and help more patients access appropriate treatment.”