Search For "rare genetic"
Awareness walk advocating inclusion of Persons with Disabilities in societ
Updated : 3 years, 6 months ago IST
New Delhi [India], December 8 (ANI/PNN): On the occasion of the "International Day of Persons with Disabilities" (IDPD) 2022, Ayushkama Foundation organized an "Awareness Walk for Equal Participation of Persons with Disabilities", at the Central Vista Avenue, India Gate, New Delhi. The organ
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Scientists link rare genetic phenomenon to neuron function, schizophrenia
Updated : 3 years, 6 months ago IST
Using state-of-the-art whole-genome sequencing and machine learning techniques, researchers conducted one of the first and the largest investigations of tandem repeats in schizophrenia, elucidating their contribution to the development of this devastating disease.
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Save The Sibling a unique program launched from Kolkata
Updated : 3 years, 6 months ago IST
New Delhi [India], November 22 (ANI/GPRC): "Save the Sibling" is a concept oriented unique bouquet of services with substantial financial reimbursement, which would be available as a package, for the first time ever in the country, if not the world.
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Lab-grown 'mini eyes' unlock understanding of blindness in rare genetic co
Updated : 3 years, 6 months ago IST
Researchers at UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) have grown 'mini eyes', which make it possible to study and better understand the development of blindness in a rare genetic disease called Usher syndrome for the first time.
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Researchers imbue cells with pathway to make own drugs
Updated : 3 years, 8 months ago IST
Washington [US], September 20 (ANI): Chemists find a rare genetic pathway that helps mammalian cells become drug factories or sensors by synthesizing noncanonical amino acids. The clues came from an uncommon bird.
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Study reveals a link between disrupted enzymes and intellectual disability
Updated : 3 years, 9 months ago IST
Washington [US], September 4 (ANI): A new study reveals how a rare genetic mutation leads to intellectual disability. The P212L mutation in an enzyme called CaMKIIalpha, which is important for learning and memory, is known to be linked to intellectual disability. However, the exact process b
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Researchers find oldest case of rare genetic condition
Updated : 3 years, 9 months ago IST
Washington [US], August 29 (ANI): Researchers have found evidence of a super rare genetic condition that gives men an extra X chromosome, reporting the oldest clinical case of Klinefelter Syndrome to date.
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Steroid treatments for Duchenne muscular dystrophy may depend on time of d
Updated : 4 years, 3 months ago IST
Ohio [US], February 22 (ANI): Duchenne muscular dystrophy is a rare genetic condition that causes progressive muscle weakness and other systemic damage. Every year, about 20,000 children are diagnosed with it. Now, a new study has reported that the time of day for providing the drug may be c
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Fastest DNA sequencing technique helps undiagnosed patients find answers i
Updated : 4 years, 4 months ago IST
Stanford (California) [US], January 19 (ANI): A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours -- a feat that's nearly unheard of in standard clinical care.
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Study develops novel gene therapy method to help children with neurologica
Updated : 4 years, 11 months ago IST
Ohio [US], July 12 (ANI): Researchers recently developed a novel method of gene therapy that can help children born with a rare genetic disorder called AADC deficiency. This deficiency causes severe physical and developmental disabilities.
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Scientists identify genetic variant that carry risk of type 2 diabetes
Updated : 4 years, 11 months ago IST
Washington [US], July 10 (ANI): Rare genetic variants carried by one in 3,000 people that have a larger impact on the risk of developing type 2 diabetes than any previously identified genetic effect have been identified by scientists at the University of Cambridge.
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Rare genetic variants confer largest increase in type 2 diabetes risk seen
Updated : 4 years, 11 months ago IST
Washington [US], July 8 (ANI): Scientists at the University of Cambridge have identified rare genetic variants carried by one in 3,000 people that have a larger impact on the risk of developing type 2 diabetes than any previously identified genetic effect.
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