Search For "rare genetic"
Father's liver donation gives new lease of life to 1-year-old Uzbek baby s
Updated : 4 months, 3 weeks ago IST
According to the hospital, the baby had developed jaundice soon after birth and required neonatal intensive care. At two months of age, he was misdiagnosed with biliary atresia, a condition that blocks the normal flow of bile from the liver, and underwent a Kasai procedure- a surgery perf
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UAE approves gene replacement therapy for new age group in spinal muscular
Updated : 5 months, 2 weeks ago IST
The Emirates Drug Establishment (EDE) has announced the approval of Itvisma (onasemnogene abeparvovec), a gene therapy that uses an adeno-associated viral vector to treat spinal muscular atrophy (SMA) in eligible adults and children aged two years and above.
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Assam State Zoo team records first-ever Albino Checkered Keelback in state
Updated : 6 months, 3 weeks ago IST
In a remarkable discovery, the Assam State Zoo team has documented the first state record of albinism in the Checkered Keelback (Fowlea piscator) in Assam.
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Rainbow Children's Hospital Saves Three-Year-Old in Extremely Rare Critica
Updated : 8 months, 1 week ago IST
Bengaluru (Karnataka) [India], September 6: In a complex case within paediatric critical care, physicians at Rainbow Children's Hospital, Bannerghatta Road, have treated successfully a three-year-old boy from Bengaluru who suffered from tuberous sclerosis, refractory seizures, alongside seve
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The Avestagenome Project® and TIGS Sign Strategic Alliance to Advance
Updated : 1 year, 3 months ago IST
Bengaluru (Karnataka) [India], February 24: The Avestagenome Project® International Pvt. Ltd. (AGENOME) & Avesthagen Limited, in partnership with the Tata Institute for Genetics and Society (TIGS), have signed a Strategic Alliance Agreement to advance research and development in rar
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Kejriwal visits family of boy suffering from rare genetic disease
Updated : 2 years, 8 months ago IST
Delhi Chief Minister Arvind Kejriwal on Tuesday met 18-month-old toddler Kanav, who is suffering from a rare genetic disease, at his house in Najafgarh.
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Genetic mutations direct immune defences in leukaemia linked rare bone mar
Updated : 2 years, 11 months ago IST
A discovery that may result in novel medicines to halt or reverse the disease could be beneficial to patients with a rare genetic bone marrow problem who are at an elevated risk of blood malignancies.
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New approach has improved diagnosis of rare genetic muscle disease: Study
Updated : 2 years, 11 months ago IST
Researchers found an approach that could help doctors make more precise diagnoses. The study was published in The Journal of Clinical Investigation.
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Study finds how some motor neuron disease, dementia patients share rare ge
Updated : 3 years ago IST
According to a new study, some persons with motor neuron disease (MND) and frontotemporal dementia (FTD) share the same rare genetic diseases that cause other neurodegenerative illnesses.
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Researchers find toxic protein linked to muscular dystrophy, arhinia
Updated : 3 years, 3 months ago IST
Researchers at the National Institutes of Health and their colleagues have found that a toxic protein made by the body called DUX4 may be the cause of two very different rare genetic disorders.
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Study reveals expanding gene therapy for rare disease that causes blindnes
Updated : 3 years, 4 months ago IST
In an effort to treat the rare genetic condition Usher Syndrome Type 2A (USH2A), a University of Houston researcher is developing a gene therapy technique.
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Research: Pair of key enzymes help regulate genome
Updated : 3 years, 5 months ago IST
After an intrepid, decade-long search, Johns Hopkins Medicine scientists say they have found a new role for a pair of enzymes that regulate genome function and, when missing or mutated, are linked to diseases such as brain tumors, blood cancers and Kleefstra syndrome a rare genetic, neurocog
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