Search For "genetic mutation"
New genetic mutation behind childhood glaucoma identified
Updated : 3 years, 3 months ago IST
An international team of scientists led by Mass Eye and Ear, a member of Mass General Brigham, and Boston Children's Hospital, has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, a devastating condition that runs in families and can rob child
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Genetic mutation led to development of severe childhood glaucoma: Study
Updated : 3 years, 3 months ago IST
Researchers discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma.
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Rare mutations may have big impact on schizophrenia pathology
Updated : 3 years, 4 months ago IST
Researchers have long searched for genetic influences in schizophrenia, a neurodevelopmental disorder that disrupts brain activity producing hallucinations, delusions, and other cognitive disturbances. However, the disease's genetic mutations have been identified in only a small fraction few
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Research: Growing motor neurons guided by 'love-hate relationship' with bl
Updated : 3 years, 4 months ago IST
When neurons involved in movement called motor neurons form, they must build connections that reach from the brain, brainstem, or spinal cord all the way to the head, arms, or the tips of the toes. How neurons navigate these systems and "decide" where and how to grow has largely been a myste
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Study sheds light on new clues into a serious neurodegenerative disease
Updated : 3 years, 4 months ago IST
Dementia encompasses a range of neurodegenerative conditions that lead to memory loss and cognitive deficiencies and affect some 55 million people worldwide. Yet despite its prevalence, there are few effective treatments, in part because scientists still don't understand how exactly dementia
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Findings create new model for investigating diseases related to circadian
Updated : 3 years, 4 months ago IST
Washington [US], October 21 (ANI): Research into genetic mutations that affect circadian rhythms offers new insight into the rest-wake cycle and provides a new model for investigating human disease and ultimately developing medical treatments.
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Study: New technologies can be key to producing effective therapies for fa
Updated : 3 years, 5 months ago IST
Portsmouth [England], September 27 (ANI): A genetic mutation causes Duchenne muscular dystrophy (DMD), which affects one in every 5,000 boys born. Because the affected gene is located on the X chromosome, girls are carriers of the mutant gene but only very rarely develop the disease (one
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Study reveals a link between disrupted enzymes and intellectual disability
Updated : 3 years, 6 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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Harmful mutations before embryo implantation can be detected by sperm scre
Updated : 3 years, 8 months ago IST
Washington [US], July 16 (ANI): A preliminary study has shown that screening sperm may help identify potentially harmful new genetic mutations and help fertility specialists prevent them from being passed on to offspring.
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Sperm screening might detect harmful mutations before embryo implantation
Updated : 3 years, 8 months ago IST
Washington [US], July 12 (ANI): Screening sperm may help identify potentially harmful new genetic mutations and help fertility specialists prevent them from being passed on to offspring, shows a preliminary study. The results suggest a potential tool to help improve fertility treatment outco
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Mechanism linking mutations in the 'dark matter' of the genome to cancer:
Updated : 3 years, 9 months ago IST
Washington [US], June 14 (ANI): A research study by the Dana-Farber Cancer Institute sheds light on that mystery, providing clues that may link mutations to epigenetic changes, and may point to potential drug targets to reduce the risk for people born with certain genetic mutations.
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Study: Most 'silent' genetic mutations are harmful
Updated : 3 years, 9 months ago IST
Washington [US], June 10 (ANI): According to a study by the University of Michigan, Point mutations that alter the resulting protein sequences are called nonsynonymous mutations, while those that do not alter protein sequences are called silent or synonymous mutations.
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