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Volume 16 | Issue 2 | April - June 2023 |
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GeNeDit |
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April - June 2023 | Vol 16 | Issue 2 | Page No 01 | |||
Care for the Rare: Steps in the Right Direction | |||
February 28th was celebrated across the world as Rare Disease Day. Many centres in India held events to commemorate this occasion. This has once again thrown the spotlight on rare diseases and the patients and families affected with them. There are around 7000 to 8000 rare Dr Prajnya Ranganath... |
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PhotoQuiz-60 | ||||
April - June 2023 | Vol 16 | Issue 2 | Cover Page | ||||
This three-year-old boy was referred for evaluation of elbow joint contractures. His mother died 6 months ago due to renal failure. Identify the condition...
Dr Prajnya Ranganath |
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Clinical Vignette |
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April - June 2023 | Vol 16 | Issue 2 | Page No 03 | ||||||
Spinal Muscular Atrophy Beyond the SMN gene: New Learnings for Common Phenotypes | ||||||
The most common cause of spinal muscular atrophy (SMA) is biallelic deletion of exon 7/8 of the SMN1 gene. However, SMA can also be caused by variants in genes other than SMN1 (non 5q-SMA). We describe a child with motor delay since infancy and progressive muscle... Eshan Dabhade, Ratna Dua Puri |
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GeneFocus |
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April - June 2023 | Vol 16 | Issue 2 | Page No 06 | ||||||
Prenatal Screening for Sex Chromosome Aneuploidies: Is it Justified? | ||||||
Prenatal screening and testing for common genetic disorders and termination of affected pregnancies is widely accepted as one of the best strategies to reduce the burden of these disorders in the population. However, one has to consider the justification for doing prenatal... Shubha R Phadke |
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GeNeViSTA |
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April - June 2023 | Vol 16 | Issue 2 | Page No 12 | ||||||
The Dichotomy of Medical Ethics in the Field of Fetal Medicine | ||||||
Noninvasive prenatal screening (NIPS) by cell-free DNA (cfDNA) in maternal blood is increasingly being used for screening for common aneuploidies due to its high sensitivity and specificity. The increased uptake of this noninvasive test has also increased the prenatal detection... Chanchal Singh, Seema Thakur |
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GeNeXprESS |
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April - June 2023 | Vol 16 | Issue 2 | Page No 12 | |||||
Next-Generation Sequencing in Newborn Screening | |||||
A randomized prospective pilot clinical trial was conducted (BabySeq Project) to investigate the clinical, psychological, and financial impact of nGS (Newborn Genomic Sequencing). This project analyzed childhood-onset and actionable adult-onset disease risk, carrier status, and... Khyati Arora |
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GenEvent |
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April - June 2023 | Vol 16 | Issue 2 | Page No 05 | |||||
Celebration of World Down Syndrome Day | |||||
'World Down Syndrome Day' was celebrated on 21st March 2023 at the Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow. The event included a panel discussion where individuals with Down... | |||||
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GenEvent |
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April - June 2023 | Vol 16 | Issue 2 | Page No 16 | |||||
Rare Disease Day Events Across India | |||||
Rare Disease Day Events Across India... | |||||
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Felicitation |
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Felicitation | |||||
Professor Ishwar Chander Verma, Advisor at the Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, has been conferred the Padma Shri award for the year 2023. The fourth highest civilian honour in the country has been awarded to him in recognition of his immense contribution and... | |||||
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Announcements |
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Announcements | |||||
1. Manipal Genetics Update VII |
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