Rare Disease India

17/07/2025

Almost 1 in 250 children born each year in India has a treatable genetic disease. Genetic screening at birth is nonexistent in public healthcare system

09/07/2025

Listen to *Prof. Wendy Chung* Chair of Pediatrics at Boston Children’s Hospital and Harvard Medical School speak on *GUARDIAN - Genomic Uniform screening Against Rare Diseases In All Newborns* at the next Knowmics Webinar on 16th August 2025 (Saturday) 20.00 hrs IST / 10:30 hrs EST.

Only limited seats avaialble. Register today at https://forms.gle/b2PVnySnNMznDoMH7

27/07/2024

27/07/2024

26/06/2024

I had the pleasure to talk on Diagnostic and genomic - Is the time now ? in the Association of Child Neurologists (AOCN) Neurogenetics Webinar series. The 60 mins abridged session is now online.

This Webinar was part of the AOCN SIG Neurogenetic & Neurometablic Disorders Session 1 on 12th June 2024This video was originally posted at

21/06/2024

The 2024 Dr. DM Vasudevan Endowment Oration at Jubilee Mission Medical College and Research Institute was on 2nd March 2024 and the oration was given by Dr. ...

17/06/2024

Diagnostic Whole Genome Sequencing and Genomic Newborn Screening . is the time now ? https://youtu.be/3CDisCTRaOA

This Webinar was part of the AOCN SIG Neurogenetic & Neurometablic Disorders Session 1 on 12th June 2024This video was originally posted at

18/05/2024

Can /ML accelerate the classification of variants of unknown significance ( ) and keep pace with the genomic discoveries ?
We show that a well curated and clinically classified variant database can go in a big way to enable this at scale.

Read at https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0303787

16/05/2024

Did you know apart from ABO and Rh, there are 36 blood group systems, encompassing over 600 blood group antigens ?.

Join the Webinar session by Dr Suvro Datta, Consultant and Head, Transfusion Medicine at Tata Medical Centre Kolkata on *Red cell genotyping in clinical practice*

📅 Saturday, 1st June, 2024 | 🕒 8.00 PM to 9.00 PM (IST)Register Now: https://forms.gle/aDZe3spdnyTaTBgz7

02/09/2023

Emma Ciafaloni, MD, describes how the new drug works, why the FDA chose to limit its use, and what it means for patients and their families.

04/07/2023

Newborn screening programmes are now in vogue in different countries, and have been deployed in India as well. They are based on the fact that an early diagnosis could allow use of effective treatments and save an infant from death or disability; in the U.S., healthcare workers screen for around 30....