From mouse model to human; serendipity leads to human genetic diagnosis
Articles / Neuroscience

From mouse model to human; serendipity leads to human genetic diagnosis

When Dr. Huda Zoghbi and her colleagues were investigating the role protein complex ATXN1-CIC plays in the normal development of the mouse brain they did not expect their work would lead to finding a genetic cause of an undiagnosed human condition. “When we began this research, we were just curious about what the ATXN1-CIC complex normally does,” … Continue reading

Juvenile Batten disease, a problem with cellular waste management
Articles / Juvenile Batten disease / Neuroscience

Juvenile Batten disease, a problem with cellular waste management

Like a large dynamic city, a cell carries out many activities that generate waste. Waste needs to be disposed of properly in order for the city to continue its activities without interruption. If waste management fails, waste progressively accumulates and eventually leads to interruption and paralysis of the activities of the city. Something similar happens … Continue reading

Image of the Month: Neuron-muscle synapses in the fruit fly
Articles / Genetics / Neuroscience

Image of the Month: Neuron-muscle synapses in the fruit fly

Certain human gene variants of ATAD3A can cause rare neurological syndromes characterized by global developmental delay, low muscular tone and visual, neurological and heart problems. The association between gene variants of ATAD3A and the neurological conditons was established using a combination of patients’ whole-exome sequencing studies led by Dr. Tamar Harel and Dr. James R. Lupski, … Continue reading

Small brain region linked to nicotine addiction plays a major role in the control of appetite
Articles / Control of Apetite / Neuroscience

Small brain region linked to nicotine addiction plays a major role in the control of appetite

[See video beolow] Researchers studying the mystery of how the brain controls appetite have brought into play a small region of the brain, the basal forebrain. In this region, a small group of a few thousand acetylcholine-producing cells moderates whether an individual is hungry or full. In mouse studies, when these cells are impaired, the … Continue reading

‘Leaky calcium’ gene linked to sudden cardiac death in epilepsy
Articles / Neuroscience

‘Leaky calcium’ gene linked to sudden cardiac death in epilepsy

[See video below] Epilepsy is an extremely common disorder affecting people of all ages, from infants through teenagers to older adults. One of the most mysterious things about this disorder is that about 6 percent of the people with epilepsy have an unusually high incidence of sudden unexpected death. “Sudden unexpected death in epilepsy – … Continue reading