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Volume 16 | Issue 2 | April - June 2023

ISSN : 2454-8774
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April - June 2023 | Vol 16 | Issue 2 | 01-02
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 diseases and around 80% of them are ...

Dr Prajnya Ranganath
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April - June 2023 | Vol 16 | Issue 2 | Coverpage
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. Shubha Phadke
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Clinical Vignette

April - June 2023 | Vol 16 | Issue 2 | 03-05
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 weakness of the lower extremity due to non 5q-...

Eshan Dabhade, Ratna Dua Puri
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April - June 2023 | Vol 16 | Issue 2 | 06-08
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 screening for disorders which may be...

Dr Shubha R Phadke
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April - June 2023 | Vol 16 | Issue 2 | 09-11
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 of sex chromosome aneuploidies ...

Dr Chanchal Singh
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April - June 2023 | Vol 16 | Issue 2 | 12-13
Next-Generation Sequencing in Newborn Screening
Interpretation of Genomic Sequencing results in healthy and ill newborns: results from the BabySeq project (Ceyhan- Birsoy et al., 2019)...

Khyati Arora
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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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Rare Disease Day Events Across India

Rare Disease Day Events Across India...

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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 tireless work in the field of medical genetics and...



1. Manipal Genetics Update VII
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