Risk of Autism Tied to Genes that Influence Brain Cell ConnectionsTuesday, Apr 28, 2009
In three studies, including the most comprehensive study of autism genetics to date, investigators funded in part by the National
Institutes of Health have identified common and rare genetic factors that affect the risk of autism spectrum disorders. The
results point to the importance of genes that are involved in forming and maintaining the connections between brain cells.
Risk of Autism Tied to Genes that Influence Brain Cell ConnectionsTuesday, Apr 28, 2009
In three studies, including the most comprehensive study of autism genetics to date, investigators funded in part by the National
Institutes of Health have identified common and rare genetic factors that affect the risk of autism spectrum disorders. The
results point to the importance of genes that are involved in forming and maintaining the connections between brain cells.
Tuberous Sclerosis Moves toward Drug Therapy, Offers Clues to Epilepsy and AutismFriday, Oct 24, 2008
Three recent studies show that the drug rapamycin reduces neurological symptoms in mouse models of tuberous sclerosis complex
(TSC), a rare genetic disorder associated with epilepsy and autism. Scientists say those results could pave the way for effective
treatment – and not just for TSC.
Tuberous Sclerosis Moves toward Drug Therapy, Offers Clues to Epilepsy and AutismFriday, Oct 24, 2008
Three recent studies show that the drug rapamycin reduces neurological symptoms in mouse models of tuberous sclerosis complex
(TSC), a rare genetic disorder associated with epilepsy and autism. Scientists say those results could pave the way for effective
treatment – and not just for TSC.
NIH Researchers Find That Rett Syndrome Gene is Full of SurprisesThursday, May 29, 2008
A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic
disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett
syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science1, shows that it
is an "on" switch for a startlingly large number of genes.
NINDS Announces New Spanish-Language WebsiteFriday, Dec 7, 2007
Free, accurate information on many neurological disorders is now available on a new Spanish-language website from the National
Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH). The website is available
at espanol.ninds.nih.gov.
El NINDS Anuncia una Nueva Página Web en EspañolFriday, Dec 7, 2007
Información precisa y gratuita sobre muchos desordenes neurológicos esta ahora disponible en una nueva página web en español
del National Institute of Neurological Disorders and Stroke (NINDS) el cual es parte de los National Institutes of Health
(NIH). La página web se encuentra disponible en espanol.ninds.nih.gov.
Mutant Mice Exhibit Abnormal Social Interactions and Brain Changes; Possible Animal Model for Autism Spectrum Disorders Monday, Aug 14, 2006
A new study shows that inactivating a gene called Pten in a mouse model produces disturbances in social interaction and brain
organization that closely mirror human autism and related disorders. This is the first time scientists have developed an
animal model with both behavioral and cellular abnormalities similar to autism. These animals could provide important insights
into understanding the brain regions and neurochemical interactions that underlie in this mysterious disease.
Mutant Mice Exhibit Abnormal Social Interactions and Brain Changes; Possible Animal Model for Autism Spectrum Disorders Monday, Aug 14, 2006
A new study shows that inactivating a gene called Pten in a mouse model produces disturbances in social interaction and brain
organization that closely mirror human autism and related disorders. This is the first time scientists have developed an
animal model with both behavioral and cellular abnormalities similar to autism. These animals could provide important insights
into understanding the brain regions and neurochemical interactions that underlie in this mysterious disease.
Learning New Rules about the "Primitive" BrainWednesday, May 4, 2005
A new study sheds light on how people quickly learn associations such as “stop at red” or “go at green”. This study challenges
the current view of how specific brain areas help us learn rules and behave accordingly. The findings help to reveal how
the brain organizes and orders its functions and processes, systems that may be disrupted in disorders such as schizophrenia
and autism.
Researchers Identify Joubert Syndrome GenesMonday, Feb 7, 2005
Researchers have identified the genes for two different forms of Joubert syndrome, a rare developmental disorder that causes
coordination and movement problems and mental retardation in children. The findings allow genetic testing for some forms
of the disorder and provide valuable insights about how the human brain develops.
Blood Markers Associated with Autism and Mental RetardationWednesday, Apr 25, 2001
A new study shows that elevated concentrations of proteins present at birth in the blood may be associated with the development
of autism and mental retardation later in childhood. The identification of a biological marker early in life and before the
onset of symptoms could lead to earlier and more definitive diagnoses, better clinical definitions, and the discovery of interventional
therapies for the disorders.
Fact Sheet Blood Markers Associated with Autism and Mental RetardationWednesday, Apr 25, 2001
A new study shows that elevated concentrations of proteins present at birth in the blood may be associated with the development
of autism and mental retardation later in childhood. The identification of a biological marker early in life and before the
onset of symptoms could lead to earlier and more definitive diagnoses, better clinical definitions, and the discovery of interventional
therapies for the disorders.
Fact Sheet Second Gene Responsible for Tuberous Sclerosis Complex Identified; TSC1 Finding on Chromosome 9 Follows 1993 Discovery of
TSC2 GeneThursday, Aug 7, 1997
Scientists have identified the second of two genes that cause tuberous sclerosis complex (TSC), a relatively common developmental
disorder characterized by a number of abnormalities, including seizures, benign tumors in several organs, and variable emotional
and cognitive disabilities. The discovery, to be reported in the August 8, 1997, issue of Science by David Kwiatkowski, M.D.,
Ph.D., and colleagues at Brigham and Women's Hospital in Boston, was funded by the National Institute of Neurological Disorders
and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI), both components of the National Institutes of
Health.