Current Issue
GeNeDit
January - March 2025 | Vol 18 | Issue 1 | Page No 01
Novel Phenotypes, New Genes: Beyond Next Generation Sequencing
I am feeling happy to present the first issue of 2025. An important reason is obvious in the articles in the GenExpress of this issue The articles are from clinical scientists from India and reflect appropriate use of the vast clinical material available in India...
Dr Shubha Phadke
PhotoQuiz-67
January - March 2025 | Vol 18 | Issue 1 | Coverpage
A four-year-old female child, born to third-degree consanguineous parents, presented with global developmental delay, nystagmus, truncal ataxia, and oculomotor apraxia....
Dr Prajnya Ranganath
Clinical Vignette
January - March 2025 | Vol 18 | Issue 1 | Page No 02
Leber Congenital Amaurosis: Need for an Eye for Detail Beyond the Eye
A 10-year-old female child presented to our outpatient department with complaints of diminution of vision in both eyes since birth. On evaluation, she had reduced distant visual acuity in both eyes with no refractive correction and absent pupillary responses....
Prakhar Kumar Singh1, Aradhana Dwivedi2, Suprita Kalra3
Clinical Vignette
January - March 2025 | Vol 18 | Issue 1 | Page No 07
Glass Syndrome Unveiled: A Unique Journey through Assisted Reproduction
Glass syndrome (OMIM #612313) is a rare disorder characterized by intellectual disability and distinct facial features, including down-slanting palpebral fissures, crowded teeth, cleft palate, and micrognathia. It was first described by Glass et al. in 1989 in a 16-year-old boy with an abnormal....
Sweta Das1, Rekha Aaron2, Paramasivam Ganesan2,Gautham Arunachal3, Sumita Danda2
GeneVista
January - March 2024 | Vol 18 | Issue 1 | Page No 10
Fatty Acid Oxidation Disorders: An Update
Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by genetic variants which lead to disruption of the beta oxidation of fatty acids. The underlying pathogenetic mechanism is either a defect in an enzyme of the beta oxidation cycle or a defect in carnitine transport, which results in energy deficiency....
Prathyusha Koneru, Prajnya Ranganath
GeNeXprESS
January - March 2024 | Vol 18 | Issue 1 | Page No 10
Next Generation Sequencing, Functional Genomics and Gene Therapy: Highlights from Indian Genetics Research
Fetal autopsy describing a perinatal lethal phenotype of two fetuses by Aggarwal et al. and subsequent identification of the SERPINA11 was published in 2024. The highlight was detailed phenotyping and functional studies performed to describe this novel serpinopathy by the authors...
Sumita Danda
