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Volume 10 | Issue 3 | July to September 2017

ISSN : 2454-8774
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July-September 2017 | Vol 10 | Issue 3 | Page No 1-2
Ray of Hope for Patients with Rare Diseases
Many genetic diseases continue to lack curative treatment. Being rare, the numbers of patients with these disorders are small and this limits the interest of researchers involved in developing treatments for rare disorders. Thus, rare diseases continue to get neglected all over the world. Many countries have ...

Shubha R Phadke
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Clinical Vignette

July-September 2017 | Vol 10 | Issue 3 | Page No 3-4
A Novel Mutation in VPS13B Gene Causing Cohen Syndrome in Two Siblings
Cohen syndrome is a rare disorder with facial dysmorphism, microcephaly, truncal obesity and intellectual disability. Clinical diagnosis of this syndrome is challenging due to the variability in the phenotype observed in this syndrome. We present a family with two affected siblings with microcephaly and globa...

Chelna Galada, Nitika Langeh, Anju Shukla and Katta M Girisha
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July-September 2017 | Vol 10 | Issue 3 | Page No 5-9
MECP2 Gene-Related Disorders
Classic Rett syndrome is a neurodevelopmental disease in females caused by mutations in the MECP2 gene. With recent advancements in molecular techniques, point mutations and small and large deletions/duplications have been identified in the MECP2 gene associated with varying disease phenotypes in both males a...

Meenakshi Lallar and Shubha R Phadke
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July-September 2017 | Vol 10 | Issue 3 | Page No 10-18
Non-immune Fetal Hydrops: An Update
‘Hydrops fetalis’ is a Greek term which refers to the pathological accumulation of fluid in fetal soft tissues and serous cavities. Non-immune fetal hydrops (NIFH) is defined as fluid accumulation in at least 2 fetal body compartments in the absence of red cell isoimmunisation (Moise, 2008). Abnormal flui...

Gayatri N1, Ashwani Tandon2 and Prajnya Ranganath1
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July-September 2017 | Vol 10 | Issue 3 | Page No 19-20
Towards a New Era: New Therapeutic Advances for Genetic Disorders
A safe and effective gene therapy may soon be available for Metachromatic leukodystrophy, a debilitating neurodegenerative disorder caused by Arylsulfatase A (ARSA) enzyme deficiency. Nine children with presymptomatic late-infantile or early-juvenile disease or early-symptomatic early-juvenile disease were en...

Surya Prabha B and Prajnya Ranganath
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July-September 2017 | Vol 10 | Issue 3 | Page No 21
This 16-year-old girl and her 9-year-old sister presented with hepatosplenomegaly, hyperglycemia and hypertriglyceridemia. Their developmental...

Dr. J P Soni
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To pave the way for addressing Rare Diseases in India, the National Initiative for Rare Diseases (NIRD) was conceptualized. NIRD is a partnership of AIIMS (All India Institute of Medical Sciences), ICMR (Indian Council of Medical Research), PRESIDE

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1. 2nd International Conference on Founder Populations The Landscape of Genetic Variants in Asian Founder Populations - from Near to Far East
2. PediGen2018, the 3rd Pediatric-Genetics Conference
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