Genetic Clinics
GeNeDit
January to March 2022| Vol 15 | Issue 1 | Page No 01
Completing the Human Genome Project: Filling in the gaps
The Human Genome Project was declared to have been completed in 2003. Since then, we geneticists are using the data on a regular basis for genetic diagnosis. High throughput technology has made the diagnosis of monogenic disorders very easy, and...
PhotoQuiz
January to March 2022| Vol 15 | Issue 1 | Coverpage
PhotoQuiz-55
This 12-year-old male child, of normal height and intellect, was referred for evaluation of painless hard swellings on the limbs, especially near the joints...
Dr Shubha Phadke
Clinical Vignette
January to March 2022| Vol 15 | Issue 1 | Page No 02-05
Recurrent Non-immune Hydrops and Epiphyseal Stippling in Fetuses Affected with Infantile Sialic Acid Storage Disease
This is the report of a woman with two pregnancies, subsequently terminated, for fetuses presenting with non-immune hydrops, and infantogram showing extensive bone stippling. Clinical exome sequencing was carried out in the DNA banked from one of the affected fetuses. This identified ...
Sumita Danda1, Manisha Madhai Beck2, Swati Rathore2
GeNeViSTA
January to March 2022| Vol 15 | Issue 1 | Page No 06-16
An Overview of the Genetic Basis and Clinical Approach for Peroxisomal Disorders
Peroxisomal disorders are a rare heterogeneous group of inherited inborn errors of metabolism. Most of the peroxisomal disorders manifest in neonatal, infantile, and childhood periods. There are certain intricacies in diagnosing peroxisomal disorders due to overlapping phenotypes, complex biochemical tests, clinical...
Gayatri Nerakh
GeNeXprESS
January to March 2022| Vol 15 | Issue 1 | Page No 17-18
A New and Exciting Era of Genomics: No Region is Beyond Reach
Publication of initial drafts of the human genome by Celera Genomics and the International Human Genome Sequencing Consortium in 2001 revolutionized the field of genetics. Still, the current Genome Reference Consortium assembly (GRCh38.p13) contains several unsolvable gaps which include...
Haseena Sait
GeNeFocus
January to March 2022| Vol 15 | Issue 1 | Page No 19
The Emergence of Clinical Genomics and Genomic Medicine Across India: The Role of the UK-India Genomic Medicine Alliance
Genomic applications in precision medicine and healthcare are now globally recognised with huge public and private investments. The United Kingdom (UK)-India Genomic Medicine Alliance (UKIGMA) offers a unique opportunity for clinicians and scientists from UK and India...
Dhavendra Kumar
