While not all rare diseases are genetic, individual genetic disorders are rare. But despite individual genetic disorders being rare, collectively they affect 1 in 25 children. Furthermore, 80% of rare diseases are caused by faulty genes. Therefore when we discuss genetic diseases it is in essence a discussion on rare diseases.
Today marks Jeans for Genes Day, a fundraising event organized by Genetic Disorders UK to raise money for causes that help children with genetic diseases. There are more than 6,000 known genetic disorders, and this number is constantly increasing as patient sequencing technologies become more accessible. Genetic diseases can affect a person’s senses, movement, ability to learn or appearance, and can range from split-hand/split-foot malformation, a congenital …
Jack the Ripper hit the headlines this week, as his supposed ‘true’ identity was revealed. It was said to be none other than Aaron Kosminski, a Polish immigrant and hairdresser of 23 years of age. It’s not a huge shock that the public has been in uproar: ‘Jack the Ripper’ trended on Twitter, news outlets are dishing out the details, and everyone is surprised the mask has finally been lifted 126 years later. But while the media world is blowing up, we’d do well to remember these are only claims.
Aaron Kosminski was a relatively young barber, only 23 years old. I’ve always imagined our famed murderer to be much older, but instead we’re faced with a suspect …
Last year, a rainbow coalition of civil liberties campaigners, cancer patients and eminent geneticists – heck, even Jim Watson! – argued before the US Supreme Court that gene sequences are a product of nature and therefore ineligible for patent protection.
And the Supreme Court replied, in all its refined wisdom:
A nine-to-nothing unanimous decision.
A difference of opinion
But the US has long known that truths held to be 'self-evident' are not always in for a smooth ride, and so we perhaps should not be too surprised – if still perplexed and saddened – to learn that the Australian Federal Court, when faced with the same question, responded: 'um, maybe not'.
I do not pretend to understand what brand of logic could …
For almost thirty years, David Stern has been obsessed with the fact that male fruit flies ‘sing’ to females. His work on this problem, published today in BMC Biology, has got him thinking about reproducibility in science. In this guest post, he sets out his prescription to help scientists check whether research results are reliable
As an undergraduate at Cornell in 1985, I looked for a research problem that combined my interests in genetics, evolution, and behavior. Kyriacou and Hall had recently reported that the period gene, which regulates circadian rhythms, also controlled a rhythm of fruit fly courtship song and that evolution of period explained a species difference in this courtship song rhythm. This seemed …
Ever since seeing this amazing computer reconstruction of moas on David Attenborough’s Life of Birds, I’ve been slightly obsessed by them. These giant birds seem to have died out in around 1400, hunted to extinction by the Maori who arrived on the island about a century before. There have been the odd unsubstantiated report of sightings, but I do suspect if there were six foot tall carnivorous birds running around New Zealand, we’d probably know about it. Attenborough’s computer reconstruction seems to be the nearest we’re likely to get to get to seeing these creatures.
But that hasn’t stopped scientists from finding out as much as they can, from the few moa bones we have. A new study in …
Yesterday, Autism Awareness Month in the US drew to a close. To mark this, Dr Joseph Buxbaum and Dr Silvia De Rubeis of the Seaver Autism Center for Research and Treatment tell us about the condition and the exploration of the genetics behind it.
Autism spectrum disorder (often simply known as autism) describes a group of neurodevelopmental disorders that manifest with an array of disabilities. A person is diagnosed with autism when they have persistent deficits in social communication and social interaction, and restricted patterns of behavior, interests, or activities.
A recent report released from the Centers for Disease Control and Prevention (CDC) indicates that 1 in 68 children in the US suffer from autism, while …
To mark today’s launch of Canine Genetics and Epidemiology, we asked the Kennel Club’s Health Information Manager, Aimée Llewellyn, to tell us more about the journal’s background and its potential impact on the wellbeing of dogs:
The Kennel Club had been working to improve their educational resources for many years. In late 2011, it was agreed to investigate developing or potentially linking with a canine-focused scientific journal to make the newly emerging genetic research more accessible to the general public and dog breeders, as well as a more centralized resource for the veterinary community.
The problem was there wasn’t a journal already in place that focused purely, or even mainly, on dog health. So we looked into the …
The field of mobile DNA is currently a very exciting area of genetics and genomics research. It was once assumed that transposable elements were useless DNA sequences that incorporated into host genomes, forming ‘junk DNA’. In recent years, however, the significance of these genetic elements has been increasingly realized, with studies regularly being published hinting at the function of transposable elements in the host genome.
It seems that some of these suspected functions are damaging to the host, and others may even be beneficial; either way, the contribution of mobile elements to genome evolution is now a hugely interesting area, providing new insights into the evolutionary ‘arms race’ between organisms.
On March 9-14th, BioMed Central attended the Keystone meeting Mobile …
What have dogs ever done for us?
Humans and dogs have a long history of co-existence and companionship, and our four-legged friends can have a profound impact on our wellbeing in a number of ways.
The company of dogs has long been thought to reduce anxiety and improve health outcomes, to the extent that Florence Nightingale recommended small pets as “an excellent companion for the sick, for long chronic cases especially” (as Professor James Serpell reports).
Animal-human therapeutic interactions are now an established component of modern medical treatment: the Memorial Sloan Kettering Cancer Center has had a dedicated team of therapy dogs for cancer patients since 2007. Alongside this, guide and hearing dogs have been able to provide essential support …
This is a guest post by Sheila McCormick, an editor for BMC Plant Biology. To mark International Women’s Day, she takes a look back over her career in plant genetics and publishing.
When I started college at Illinois State University, I thought I might become a high school biology teacher. But as the semesters went on I started to consider going to graduate school. The professor who taught Genetics, Dr. Herman Brockman, was an inspiration – I basically fell in love with Genetics and decided to do a PhD.
I first started graduate school at Univ. Texas-Austin, intending to work on fruit fly genetics. As an undergraduate I had read a paper in the journal Genetics about the …