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…
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…
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 #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 #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.…