Genetic Clinics
GeNeDit
July - September 2024 | Vol 17 | Issue 3 | Page No 01
Importance of Artificial Intelligence in Medical Genetics
Artificial intelligence (AI) is making all areas of medicine swift, sharp, speedy and hence, effective. AI-based tools can do many things which human intelligence cannot. However, AI is not new for medical geneticists. AI-based next-generation sequencing (NGS) data analysis and variant interpretation has made...
Dr. Shubha Phadke
PhotoQuiz-64
July - September 2024 | Vol 17 | Issue 3 | Coverpage
This two-year-old boy was brought for evaluation of short lower limbs and cleft palate. Identify the condition...
Dr Shubha Phadke
Clinical Vignette
October-December 2024 | Vol 17 | Issue 3 | Page No 03
Mosaicism in Clinical Genetics: Counselling Challenges and Diagnostic Dilemmas
Mosaicism involves the presence of more than one genetically distinct cell line within a single organism, contributing to a range of pathologies from chromosomal disorders to various cancers. In clinical practice, mosaicism presents significant challenges, from suspicion to...
Haseena Sait
GeNeViSTA
July - September 2024 | Vol 17 | Issue 3 | Page No 15
Spliceosome Variants: Insights into Disease Pathology, Current Detection Techniques, and Clinical Implications in Genetic Diseases
Midgut volvulus is a rare developmental anomaly with a largely unknown etiology that is challenging to diagnose antenatally in the second trimester. The objective of this case report is to describe a rare case of midgut volvulus associated with trisomy 21. Amniocentesis was done in a 19-week fetus with severe ventriculomegaly, hypoplastic cerebellum, echogenic bowel, and growth restriction to rule out chromosomal...
Prince Jacob1#, Keerthana Kumari S1, Rachanashree HN1, Akila Prashant1,2, Siddaramappa J Patil3#
GeNeFocus
July - September 2024 | Vol 17 | Issue 3 | Page No 25
A Day in the Life of a Geneticist
As I board my metro train to go home after a seemingly heavy day, I start reflecting on the day's proceedings. It started with a message on WhatsApp- with news of the death of a baby whom I had seen a few weeks ago. The baby had come from another country, with a hope for...
Sunita Bijarnia-Mahay
GeNeXprESS
July - September 2024 | Vol 17 | Issue 3 | Page No 28
Applications of Artificial Intelligence (AI) in Medical Genetics: From Patient Counseling to Training of Students.
Human Phenotype Ontology (HPO)-based phenotypic descriptions for whole genome sequencing (WGS) in the neonatal intensive care unit (NICU) is an established practice. It is done manually and at one or two isolated points of time. Constant vigilance for changes in laboratory...
Ch Neeraja, Ashwin Dalal
HearToHearTalk
The Prenatal Diagnosis after Twenty-Four Weeks of Gestation: The Question is What Next?
Prenatal diagnosis is not only a technically advanced process but needs equally competent counselling expertise. At present very few prenatally diagnosed disorders can be treated with a complete normal outcome. Hence, termination is the only option to prevent the financia...
Shubha Phadke
GeNeEvent
GeNeEvent
Rare Disease Day Related Events at Different Centres Across India National Symposium on Rare Diseases Down Syndrome Day Celebrations
Remya Rajkumar, Sankar VH
