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Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators' research is to use a better understanding of the underlying genetic causes as a foundation to develop better treatments for these groups of patients.
We are studying both the genetics and clinical features of these disorders. We hope to understand the problems faced by individuals with these disorders as well as their causes. In the future, we hope to develop therapies that are geared specifically for individuals based on the underlying biology. To participate in the study, you will be asked to provide a copy of the magnetic resonance imaging (MRI) documenting ACC, PMG, or DWM, clinical information, and blood samples from the affected individual and from the parents. Please see contact information and our webpage below.
Observational Model: Cohort, Time Perspective: Prospective
University of California, San francisco
University of California, San Francisco
Published on BioPortfolio: 2014-08-27T03:45:36-0400
Two groups of subjects will be constitute: (i) patients with circumscribed brain injury (including stroke, vascular malformations, tumor or circumscribed infectious lesions) or degenerativ...
The goal of this project is to study the effect of noninvasive brain stimulation on decision-making and on brain activity in impulse control disorders.
This study looks at the role of a specific brain chemical system in the mood and attention symptoms seen in major depression and bipolar disorders using functional brain imaging.
Some voice disorders are caused by uncontrolled muscle actions that affect the larynx or voice box. The purpose of this study is to understand 1) how the brain controls voice production; ...
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencepha...
Obesity and dyslipidemia may negatively affect brain health and are frequent medical comorbidities of schizophrenia and related disorders. Despite the high burden of metabolic disorders, little is kno...
The greater presence of neurodevelopmental antecedants may differentiate schizophrenia from bipolar disorders (BD). Machine learning/pattern recognition allows us to estimate the biological age of the...
The spectrum of "demyelinating disorders" is broad and it includes various disorders with central nervous system (CNS) demyelination[...].
Brain plasticity is a lifelong process and involves both Hebbian and non-Hebbian synaptic plasticity. The latter, such as intrinsic plasticity and homeostatic synaptic plasticity or synaptic scaling, ...
The relationship between residual brain tissue in patients with disorders of consciousness (DOC) and the clinical condition is unclear. This observational study aimed to quantify grey (GM) and white m...
A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions.
Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, MOVEMENT DISORDERS; ATAXIA, pain syndromes, visual disorders, a variety of neuropsychological conditions, and COMA. Relatively common etiologies include CEREBROVASCULAR DISORDERS; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; BRAIN HYPOXIA; INTRACRANIAL HEMORRHAGES; and infectious processes.
A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases).
Epilepsy is defined as a disorder of brain function characterized by recurrent seizures that have a sudden onset. (Oxford Medical Dictionary). A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a tempora...
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase 'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...