10 New Genetics Discoveries and the Disease they can treat
For years, scientists have recognized that many of the world's most dangerous diseases have an underlying genetic component. Even your susceptibility to conditions like heart disease and lung cancer, diseases closely tied to lifestyle factors like smoking and lack of exercise, are believed to be heavily influenced by your genetic makeup. Unfortunately, technological limitations have long prevented researchers from gleaning as much useful information as possible from the genetic screenings that search for genes that might underpin these diseases. But recently, advances in the world of genetics have been coming in greater and greater strides than ever. Here are ten recent genetic discoveries, and the diseases they may one day help to treat. 10) Epilepsy gene LGI2
Everyone knows that DNA is nature's most basic building block, with many species sharing similar, if not identical, versions of the same genes. But it can be easy to forget just how universal it really is. Take epilepsy gene LGI2 for example. It was actually first discovered inLagotto Romagnolo dogs (better known as the dogs used to track down underground mushrooms known as Truffles), but has implications for better understanding childhood epilepsy. Epilepsy is the most common neurological condition in children. The gene discovery was made by a group of researchers at the University of Helsinki led by Dr. Hannes Lohi, who says it will open up many avenues of research that will provide insight into the mechanisms underlying neurological development in the adolescent brain. 9) BOULE, the world's most universal sexy gene
We say "sexy gene." By that, we mean a gene specific to sex. Last year, researchers at Northwestern University Feinberg School of Medicine discovered that the gene BOULE is not only responsible for sperm production, it's actually the first known gene to be required for sperm production in species ranging from insects to mammals. "This is the first clear evidence that suggests our ability to produce sperm is very ancient, probably originating at the dawn of animal evolution 600 million years ago," said Eugene Xu, who led the study. "Our findings also show that humans, despite how complex we are, across the evolutionary lines all the way to flies, which are very simple, still have one fundamental element that's shared." Discovery of the gene's linchpin role in sperm production have countless potential applications in the public health sector, including male contraception, male infertility, and even development of pesticides to fight against disease-carrying parasites. 8) SIGMAR1 mutation causes juvenile ALS
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a devastating neurodegenerative disorder characterized by the loss of motor neurons in the brain and spinal cord. When the disease begins progressing before the age of 25 — as it did in physicist Stephen Hawking — it is known as juvenile ALS. The genetic underpinnings of ALS are poorly understood, so the discovery of genetic associations always has exciting implications for new areas of research. Just this month, researchers from the Kingdom of Saudi Arabia identified a mutation on the SIGMAR1 gene associated with the development of juvenile ALS. The gene affects a class a proteins the authors suspect is involved in motor neuron function and movement disorders, and is one that the researchers say could soon become a potential therapeutic target. 7) MYB-NFIB Fusion gene found in 100% of examined adenoid cystic carcinomas Fusion genes are created when a chromosomal mutation causes two otherwise healthy genes to join together. For many years, it was believed that fusion genes were implicated only in blood and bone marrow cancers like leukemia, but a recent study by researchers at the Sahlgrenska Academy at the University of Gothenburg, Sweden found that the MYB-NFIB fusion gene was found in 100% of adenoid cystic...
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