Search For "rare genetic"
Experts say rare genetic defect in humans might cause serious metabolic di
Updated : 4 years, 11 months ago IST
Washington [US], June 27 (ANI): A rare genetic defect that affects the so-called ALG2 gene can cause serious metabolic diseases in humans, said experts, adding that it does so through the defective formation of proteins and sugar molecules. Till now, its rareness and complexity made it diff
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Rare genetic defect can cause serious metabolic diseases in human
Updated : 4 years, 11 months ago IST
Washington [US], June 23 (ANI): A rare genetic defect that affects the so-called ALG2 gene can cause serious metabolic diseases in humans, said experts, adding that it does so through the defective formation of proteins and sugar molecules. Till now, its rareness and complexity made it diffi
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Indo-Irish Biotech startup CyGenica secures funding from SOSV to accelerat
Updated : 4 years, 12 months ago IST
Pune (Maharashtra) [India], June 8 (ANI/BusinessWire India): CyGenica has announced that it has raised USD $1.4 million in a seed fund investment round, led by global venture capital investor SOSV.
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Researchers find rare genetic disease caused by mutations in protein that
Updated : 5 years, 1 month ago IST
Pittsburgh [US], May 7 (ANI): An international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia. The research was published in
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Study sheds light on rare genetic variants that increase risk for lung can
Updated : 5 years, 2 months ago IST
Washington [US], March 19 (ANI): Lung cancer is the leading cause of cancer death. While the risk for this disease can be influenced by environmental and lifestyle factors like smoking, studies estimate that 18 per cent of lung cancer cases are due to inherited genetic variants. New research
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Delhi couple resorts to crowdfunding for treatment of their infant sufferi
Updated : 5 years, 3 months ago IST
New Delhi [India], March 6 (ANI): A couple living in Delhi's Paschim Vihar are trying to raise Rs 16 crore through crowdfunding to save their 10-month-old child Rehansh's life, who is suffering from Spinal Muscular Atrophy (SMA) 1, a rare genetic disease.
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Movement for ataxia patients can be restored by deep brain stimulation and
Updated : 5 years, 3 months ago IST
Washington [US], February 27 (ANI): The findings of recent research from Baylor College of Medicine suggests that a combination of exercise and deep brain stimulation (DBS) can have benefits for treating a rare genetic neurodegenerative disease called ataxia, which is characterized by progre
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Venkaiah Naidu inaugurates Pediatric Rare Genetic Disorders Laboratory in
Updated : 5 years, 3 months ago IST
Hyderabad (Telangana) [India], February 20 (ANI): Vice President M Venkaiah Naidu inaugurated the 'Pediatric Rare Genetic Disorders Laboratory' on the Silver Jubilee of the Centre for DNA Fingerprinting and Diagnostics (CDFD) on Saturday.
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Improper DNA division leads to human developmental disorder: Study
Updated : 5 years, 5 months ago IST
Birmingham [UK], December 15 (ANI): A recent study by University of Alabama at Birmingham describes a rare genetic development disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities in humans.
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Study identifies new link between calcium, cardiolipin in heart defects
Updated : 5 years, 11 months ago IST
Washington D.C. [USA], July 11 (ANI): Detection of Energy production in heart muscles result in a variety of cardiac diseases. A team of scientists has now discovered a new link between calcium, heart energy production, and cardiolipin, a type of fat. The discovery helps explain heart defect
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Study focuses on mechanism to explain role of gene mutations in kidney dis
Updated : 6 years, 2 months ago IST
Washington D.C. [USA], April 5 (ANI): A mechanism that appears to explain how certain genetic mutations give rise to a rare genetic kidney disorder called nephrotic syndrome has been uncovered by researchers from the Center for Precision Disease Modeling at the University of Maryland School
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ICMR releases draft guidelines to treat rare genetic diseases
Updated : 6 years, 5 months ago IST
New Delhi [India], Dec 13, (ANI): The Indian Council of Medical Research (ICMR) on Friday released the draft guidelines for ensuring that rare genetic therapies and clinical trials can be performed in an ethical, scientific and safe manner in India.
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