Doctors Thought They Knew What a Genetic Disease Is. They Were Wrong.
The pair had helped identify a still-unnamed disease, which they had tied to a particular gene and to a particular somatic ...
The Atlantic4 天
Doctors Thought They Knew What a Genetic Disease Is. They Were Wrong.
The pair had helped identify a still-unnamed disease, which they had tied to a particular gene and to a particular somatic mutation—a genetic change that had not been passed down from a parent ...
Neuroscience News1 天
New Insight into Genetic Disease Variability
New research reveals that certain cells inactivate one parent’s copy of a gene, leading to a bias in gene activity that may ...
Service dog helps boy with rare genetic disorder achieve ‘unbelievable’ progress
When a young New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form — a golden retriever ...
Genetic bias in cells: Why some genes favor mom or dad, and what it means for disease outcomes
New work by Columbia researchers has turned a textbook principle of genetics on its head and revealed why some people who ...
Fox News6 天
Service dog helps boy with rare genetic disorder achieve ‘unbelievable’ progress
When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form: a golden retriever named Yammy. Susan Bresnahan’s son, Patrick, was born in 2020 during ...
KRDO4 天
An El Paso County family is using social media to raise awareness on a rare genetic disorder
A live TV news station covering breaking news, investigative reporting, and traffic for Colorado Springs, Pueblo, and ...
Science Daily2 天
'Smooth brain' disorders may share a common cause -- and potential treatment
Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...
ALZFORUM23 天
What Is Early Onset Familial Alzheimer Disease (eFAD)?
Prognosis: Is eFAD Different from LOAD? Neurologists generally agree that eFAD and late-onset AD are essentially the same disease, apart from the differences in genetic cause and age of onset. eFAD ...
A Pup for Pip!: Local toddler in desperate need of service dog to help manage rare genetic ...
Sophia, also known as Pip, is almost 2 years old. She is full of energy and laughter and loves to dance. But when her parents ...
Medscape2 天
The Genetics of Parkinson Disease: Implications for Neurological Care
During the past decade, Parkinson disease (PD) has evolved from a textbook example of a mostly nonhereditary disease to a complex disorder with a well-established genetic component in a ...