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91 posts

Grand rounds #3, Myotonic dystrophy 1 / DMPK repeat expansion

There was a male infant present with cryptorchidism and muscle weakness. Both parents of the child were unaffected, and there was no family history. The clinician…

Grand rounds #2, autosomal recessive Deafness 22 / OTOA Inversion

Patient G, a 5-year-old Korean boy, suffered from severe congenital non-syndromic bilateral sensorineural hearing loss (SHNL). In order to rule out the possibility of having progressive…

Grand rounds #1, type I Neurofibromatosis / NF1 intron case

Patient H was a 6-year-old Korean boy who was clinically suspected of having type I Neurofibromatosis. He presented with general symptoms of type 1 neurofibromatosis which…


Clinical geneticist interview: Dr. said

‘The Good Doctors’ is a programmed series of interviews to meet doctors who encounter patients with rare diseases every day and hear their stories. These interviews…

Life at 3billion

Reviewing 2022 Korean Society of Medical Genetics and Genomics (KSMG) Fall Meeting

The 64th Korean Society of Medical Genetics and Genomics (KSMG) meeting was held at the Kim Koo Museum & Library on November 10, 2022. The meeting started…

My Odyssey

Wilson Disease: Diagnosis story

A boy diagnosed with Wilson disease A few months ago, I received a phone call from a pediatric neurology specialist regarding one of his patients. I…


Interview with Dr. Jinu Han from Yonsei Severance Hospital

The third guest of Good Doctor Season 1 is Professor Jinu Han from Gangnam Severance Hospital. Professor Jinu Han is a specialist in pediatric eye diseases…

My Odyssey

My Odyssey #16: A man diagnosed with X-linked Agammaglobulinemia

The closure he needs: Genetically confirmed X-linked Agammaglobulinemia after 24-year wait We first saw Saravanan in our immunology clinic in 2021. Saravanan is a 40-year-old Indian…


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 CARE * DATE: 2 - 3 September 2022 * Organized by Paediatric Department, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia Clinical Practice…


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.…

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