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83 posts

Psychological status of patients with rare diseases and their caregivers that doctors should know about

According to the Korea Disease Control and Prevention Agency, 16.4% of rare disease patients visit four or more hospitals, and 6.1% of them struggle…

My Odyssey

My Odyssey #15: Nazheef’s diagnosis story of Mowat-Wilson syndrome

Finally, we know the answer: Mowat-Wilson syndrome The story is about a 7-year-old young boy Nazheef, who had a global developmental delay with epilepsy, congenital heart…


Practical Paediatrics Update 2022

EMERGING TRENDS IN PAEDIATRIC CAREDATE: 2 - 3 September 2022Organized by Paediatric Department, Faculty of Medicine and Health Sciences, Universiti Putra MalaysiaClinical Practice for Rare Genetic…


3billion signs MoU with Kolon Industries to jointly develop gene therapy for rare diseases

On September 1, 3billion signed a Memorandum of Understanding (MoU) with Kolon Industries Future Technology Institute to expand their partnership in developing new gene therapy drugs.…


3billion Announced the Winners of the Second End the Diagnostic Odyssey Grant

3billion recently once again opened up applications for the End the Diagnostic Odyssey Grant. We are once again excited to announce the physicians and researchers that…

Rare Disease Series

Rare disease series #28 - Ataxia with Vitamin E Deficiency (AVED)

“Surprisingly, the mother informed me that Emily had clumsiness since childhood. In addition, Emily had never walked like ordinary people, and she seemed to have frequent…


3billion meet European doctors and researchers of rare disease diagnostics by participating in ESHG 2022

3billion is participating in the 'European Society of Human Genetics Annual Conference(ESHG 2022)' to in Vienna, Austria from June 11 to 14 (local time)…


Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

Automated variant prioritization system, a breakthrough in the field of rare disease diagnosis Among the 7,000 or more Mendelian diseases identified worldwide so far, more…


3billion Wins in CAGI6, a Global Artificial Intelligence Genome Interpretation Contest

In the 6th CAGI(Critical Assessment of Genome Interpretation) Challenges, a global artificial intelligence genomic interpretation contest, 3billion took first place by predicting the rare diseases…


3billion’s article on EVIDENCE was selected as Top Cited Article in Wiley Online Library

A research paper on 3billion's automated variant prioritization system, EVIDENCE, published in Wiley's Clinical Genetics Journal in December 2020, was selected as the ‘Top Cited Article’…

Life at 3billion

Meet 3billionaires 👋: Interview with AI team leader, Kyoungyeul Lee

Dawn Please introduce yourself. Kyle (Dr. Kyoungyeul Lee) Hello, my name is Kyle, and I am leading the AI team at 3billion. Nice to meet you.…

Life at 3billion

2022 3billion Ping-Pong Championships

I think one of the most interesting research data that has come out of Silicon Valley is that when companies are no longer enthusiastic and optimistic…

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