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Researchers at the University of Toronto have uncovered new insights on the genetic causes of Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease. These findings could uncover a new way to detect a genetic predisposition to ALS before the disease strikes.  The team state that a common mutation associated with ALS is an unstable repeated DNA sequence within the C9orf72 gene that could reach into the thousands. However, it is unknown how many repeats would be sufficient to…

Researchers at the University of Toronto have uncovered new insights on the genetic causes of Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease. These findings could uncover a new way to detect a genetic predisposition to ALS before the disease strikes. The team state that a common mutation associated with ALS is an unstable repeated DNA sequence within the C9orf72 gene that could reach into the thousands. However, it is unknown how many repeats would be sufficient to…

Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding may help scientists unravel the complex biological mechanism behind these diseases. The team states that the current study allows the medical community to fully understand the biological pathways associated with these disorders and why some individuals do not respond to treatment. The opensource study is published in the journal…

Researchers identify epigenetic mutation in pediatric seizure disorders.

Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding may help scientists unravel the complex biological mechanism behind these diseases. The team states that the current study allows the medical community to fully understand the biological pathways associated with these disorders and why some individuals do not respond to treatment. The opensource study is published in the journal…

After generating new brain tumour models researchers at Cedars-Sinai have identified the previous unknown role of a family of genes underlying tumour growth in a wide spectrum of high grade brain tumours. The researchers state that with these new genetic findings they now plan to develop targeted therapeutics that they hope will one day be used treat patients with high grade brain tumours and increase their survival. The study is published in the journal Cell Reports.

Researchers identify genes critical for high grade brain tumour growth.

After generating new brain tumour models researchers at Cedars-Sinai have identified the previous unknown role of a family of genes underlying tumour growth in a wide spectrum of high grade brain tumours. The researchers state that with these new genetic findings they now plan to develop targeted therapeutics that they hope will one day be used treat patients with high grade brain tumours and increase their survival. The study is published in the journal Cell Reports.

A study from researchers at Massachusetts General Hospital (MGH) and Brigham and Women’s Hospital (BWH) reveals for the first time exactly how mutations associated with the most common form of inherited Alzheimer’s disease produce the disorder’s devastating effects. The paper upends conventional thinking about the effects of Alzheimer’s-associated mutations in the presenilin genes and provides an explanation for the failure of drugs designed to block presenilin activity.

Study identifies the epigenetic pathway of familial Alzheimer’s disease.

A study from researchers at Massachusetts General Hospital (MGH) and Brigham and Women’s Hospital (BWH) reveals for the first time exactly how mutations associated with the most common form of inherited Alzheimer’s disease produce the disorder’s devastating effects. The paper upends conventional thinking about the effects of Alzheimer’s-associated mutations in the presenilin genes and provides an explanation for the failure of drugs designed to block presenilin activity.

Researchers identify a new form of autism.

Researchers identify a new form of autism.

UNC researchers create DNA repair map of the entire human genome

UNC researchers create DNA repair map of the entire human genome

Dna Repair,Dna Genetics,Human Genome,Molecular Biology,Sciences,Microbiology,Universe,Psychology,Medicine

Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families, and possibly others, for generations. These families have been plagued by a variety of congenital eye malformations, including small eyes, with poor vision, and the complete absence of eyes. But until now, no one could figure out the genetic basis for these conditions. By mapping and sequencing family DNA in the current study, the team found mutations in a protein…

Researchers map rare mutation causing vitamin A deficiency and eye deformities.

Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families, and possibly others, for generations. These families have been plagued by a variety of congenital eye malformations, including small eyes, with poor vision, and the complete absence of eyes. But until now, no one could figure out the genetic basis for these conditions. By mapping and sequencing family DNA in the current study, the team found mutations in a protein…

Subtle differences separate autism from fragile X syndrome — ping. As a result, nearly one-third of them are diagnosed with autism.    Because of this overlap in symptoms, some researchers see developing drugs for fragile X syndrome as a relatively straightforward path to autism medications. Fragile X syndrome has a single known genetic cause, theoretically making it easier to develop targeted treatments.  But we should know by now that nothing in autism is straightforward. A new study fuels…

Subtle differences separate autism from fragile X syndrome — ping. As a result, nearly one-third of them are diagnosed with autism. Because of this overlap in symptoms, some researchers see developing drugs for fragile X syndrome as a relatively straightforward path to autism medications. Fragile X syndrome has a single known genetic cause, theoretically making it easier to develop targeted treatments. But we should know by now that nothing in autism is straightforward. A new study fuels…

A new blood test may more accurately identify blood signatures, or biomarkers, for Parkinson’s disease (PD), according to a new study published in the journal Movement Disorders. The study, conducted by researchers at Mount Sinai applies a new approach to looking for blood biomarkers for both patients with and without a known genetic risk factor for PD. This paper is the fourth from the team reporting new computational techniques to improve the identification of reliable blood biomarkers.

New blood test identifies genetic risk factor for Parkinson’s disease in human studies.

A new blood test may more accurately identify blood signatures, or biomarkers, for Parkinson’s disease (PD), according to a new study published in the journal Movement Disorders. The study, conducted by researchers at Mount Sinai applies a new approach to looking for blood biomarkers for both patients with and without a known genetic risk factor for PD. This paper is the fourth from the team reporting new computational techniques to improve the identification of reliable blood biomarkers.

Study identifies autism gene which regulates dendrite development to slow down brain communication.  #autism #Autism #autismspectrumdisorder #biology #brain #Causesofautism #dendriticspine #disorder #Facebook #Health_Medical_Pharma #Heritabilityofautism #McMasterUniversity #Nervoussystem #neurodevelopmentaldisorders #neurons #neuroscience #Neuroscience #Psychiatricdiagnosis #spineAutismspectrumdisorder #Synapse #Twitter

Study identifies autism gene which regulates dendrite development to slow down brain communication. #autism #Autism #autismspectrumdisorder #biology #brain #Causesofautism #dendriticspine #disorder #Facebook #Health_Medical_Pharma #Heritabilityofautism #McMasterUniversity #Nervoussystem #neurodevelopmentaldisorders #neurons #neuroscience #Neuroscience #Psychiatricdiagnosis #spineAutismspectrumdisorder #Synapse #Twitter

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