Skip to main content

Home/ Peppers_Biology/ Group items tagged genetic disorder

Rss Feed Group items tagged

Lottie Peppers

Scientists discover new rare genetic brain disorder - 0 views

  •  
    The discovery of this genetic disorder, reported in two papers in the journal Cell, demonstrates the growing power of new tools to uncover the causes of diseases that previously stumped doctors.
Lottie Peppers

More Differences Than Similarities Are Found in Autistic Siblings - NYTimes.com - 0 views

  •  
    Most siblings with a diagnosis of autism do not share the same genetic risk factors for the disorder and are as distinct in their behaviors as any brothers and sisters, scientists reported on Monday in a study that came as a surprise to many doctors, if not to parents.
Lottie Peppers

Monkeys Built to Mimic Autism-Like Behaviors May Help Humans - The New York Times - 0 views

  •  
    Scientists have genetically engineered monkeys so that they exhibit behaviors similar to autism, with a goal of testing potential therapies on the animals in hopes that their resemblance to humans will yield more answers about the disorder. The scientists found that the monkeys showed "very similar behaviors related to human autism patients, including repetitive behaviors, increased anxiety and, most importantly, defects in social interactions," said Zilong Qiu, a leader of the research at the Institute of Neuroscience at the Chinese Academy of Sciences in Shanghai. The team is now imaging the brains of the monkeys, he said, "trying to identify the deficiency in the brain circuits that is responsible for the autism-like behavior."
Lottie Peppers

Classification | PBS LearningMedia - 1 views

  •  
    From single-celled organisms to giant redwoods, Life Science explores all of Earth's life forms. Use interactive, animated activities to identify the living and nonliving components of an ecosystem, design a Venn diagram to compare the migrations of monarch butterflies and red knot shorebirds, and take a virtual field trip to a solar farm. Resources in Life Science gives you a wide range of topics, including the cell cycle, genetic disorders, and bioethics.
Lottie Peppers

Genetic Traits - GeneEd - Genetics, Education, Discovery - 0 views

  •  
    Curricular resources including animations and games
Lottie Peppers

Hyper-IgM Syndrome - National Center for Case Study Teaching in Science - 0 views

  •  
    Hyper-IgM syndrome is an X-linked genetic disorder more commonly affecting males than females. It is caused by the lack of heavy chain class-switching from IgM to other isotypes. Patients with hyper-IgM syndrome are susceptible to a variety of infections as demonstrated in this medical case study. Students are presented patient information, symptoms and a diagnosis that must be interpreted. The case was written for use with the team-based learning (TBL) format involving groups of 4-5 students per group, but it could also be completed as an individual project. The case is targeted to premedical/allied health advanced students and is appropriate for any immunology course at the undergraduate or graduate level in a biomedical science program, or health-related professional courses such as advanced physiology, pathophysiology, microbiology, or histology and cytology.
Lottie Peppers

Mitochondrial diseases - YouTube - 0 views

  •  
    Mitochondrial diseases are a group of disorders caused by genetic mutations. In this animation, Nature Video finds out how these diseases arise, and how new techniques can stop them being passed on from mother to child.
Lottie Peppers

Correcting sickle cell disease with stem cells -- ScienceDaily - 0 views

  •  
    Using a patient's own stem cells, researchers have corrected the genetic alteration that causes sickle cell disease, a painful, disabling inherited blood disorder that affects mostly African-Americans. The corrected stem cells were coaxed into immature red blood cells in a test tube that then turned on a normal version of the gene
Lottie Peppers

The Forever Fix: Gene Therapy and the Boy Who Saved It: 9781250015778: Medicine & Healt... - 0 views

  •  
    Fascinating narrative science that explores the next frontier in medicine and genetics through the very personal prism of the children and families gene therapy has touched. Eight-year-old Corey Haas was nearly blind from a hereditary disorder when his sight was restored through a delicate procedure that made medical history.  Like something from a science fiction novel, doctors carefully introduced viruses bearing healing genes into Corey's eyes-a few days later, Corey could see, his sight restored by gene therapy.
Lottie Peppers

From the Cystic Fibrosis Gene to a Drug | Science | Classroom Resources | PBS Learning ... - 0 views

  •  
    This video excerpt from NOVA examines the promise and realities of developing drugs designed to treat genetic disorders. The video presents the story of one patient, Michael McCarrick, whose lungs were devastated from years of suffering from cystic fibrosis. After researchers identified the gene involved in cystic fibrosis, it took decades to find ways to fortify the faulty protein responsible for the serious illness. While two drugs, including one called Kalydeco, offer a small number of patients hope that they will not have to endure a lung transplant, it may be years and several hundred million more development dollars before effective drugs are available for a wider population.
Lottie Peppers

The promise of gene editing - BBC News - 0 views

  •  
    Sharmila Nikapota, the mother of a child with a rare genetic disorder, has high hopes for gene editing. "For us this technology holds the unimaginable dream of a cure," she says. Her 13-year-old daughter Sohana has spent her entire life covered in painful blisters, the result of a condition called recessive dystrophic epidermolysis bullosa.
Lottie Peppers

Diagnosis Unknown - 0 views

  •  
    When Beatrice Rienhoff was born in 2003 following an uneventful, full-term pregnancy, she was breathing well and had good color and muscle tone. She was on the small side, and there were some other subtle clues that something might be amiss. Her fingers and toes, especially on the right side of her body, were bent.
Lottie Peppers

Shattered chromosome cures woman of immune disease | Science/AAAS | News - 0 views

  •  
    Call it a scientific oddity-or a medical miracle. A girl who grew up with a serious genetic immune disease was apparently cured in her 30s by one of her chromosomes shattering into pieces and reassembling. Scientists traced the woman's improvement to the removal of a harmful gene through this scrambling of DNA in one of her blood stem cells-a recently identified phenomenon that until now had only been linked to cancer.
Lottie Peppers

Scientists produce strongest evidence yet of schizophrenia's causes | EurekAlert! Scien... - 0 views

  •  
    Published today (17:00BST, 03/06/2015) in the journal Neuron, their work presents strong evidence that disruption of a delicate chemical balance in the brain is heavily implicated in the disorder. In the largest ever study of its kind, the team found that disease-linked mutations disrupt specific sets of genes contributing to excitatory and inhibitory signalling, the balance of which plays a crucial role in healthy brain development and function.
Lottie Peppers

Treating inherited disease could start in the womb - health - 26 February 2015 - New Sc... - 0 views

  •  
    The team was grafting skin from one strain of mice to another. The new skin tended to get destroyed by the recipient animals' immune systems. But when the group injected cells from the donor mice into developing fetuses, the mice that were born were much more likely to accept the skin graft. It seemed they had been primed to the foreign cells while in the womb, and developed a tolerance.
Lottie Peppers

How FOP Works - HowStuffWorks - 0 views

  •  
    You might not think about your bones very often unless you break one. When you break a bone, the bone heals itself and begins to regrow. But, what if your muscles, tendons and ligaments turned to bone? What if you formed a second skeleton on top of the one you already have? That's what happens with Fibrodysplasia Ossificans Progressiva, or FOP.
‹ Previous 21 - 36 of 36
Showing 20 items per page