Illustration for article titled 10 New Genetic Discoveries — And The Diseases They Could 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 in Lagotto 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 carcinomas — a glandular cancer usually fond in the head, neck, and breasts.

"We suggested back in 1986 that the MYB gene might be involved in this form of cancer, but it's only recently that we've had access to the tools needed to prove it," says Göran Stenman, who led the team that made the discovery. He continues:

Now that we know what the cancer is down to, we can also develop new and more effective treatments for this often highly malignant and insidious form of cancer... One possibility might be to develop a drug that quite simply turns off this gene.


6) Mutation in the PRPS1 gene linked to a progressive hearing loss in males
Postlingual nonsyndromic hearing impairment (DFN2 for short) is a rare form of progressive deafness in males. Boys with the disease have been identified in the US, Great Britain, and China, and typically begin losing their hearing between the ages of 5 and 15 and continue to experience hearing loss over the course of their lives.

University of Miami Miller School of Medicine researcher Xue Zhong Liu led a team that recently discovered that the PRPS1 gene plays an indispensable role in the development and maintenance of the middle ear. "PRPS1 is an interesting example of a human disease gene in which gain of function or loss of function mutations cause several different and distinct hereditary disorders," said Liu.


The fact that PRPS1 is only the second identified gene associated with NFD2 makes it a groundbreaking discovery, but its role in the development of the middle ear makes it even more important. Dr. James F. Battey, director of the National Institute on Deafness and Other Communication Disorders (NIDCD) said:

This discovery offers exciting therapeutic implications...not only does it give scientists a way to develop a targeted treatment for hearing loss in boys with this disorder, it may also open doors to the treatment of other types of deafness, including some forms of acquired hearing loss.


5) The discovery of mutations in MCF2L could lead to therapies for osteoarthritis sufferers
Osteoarthritis is a debilitating disease that affects upwards of 40% of people over the age of 70, and an estimated 27 million people in the US alone. Historically speaking, the complicated nature of the condition has made it especially difficult for researchers to identify what are believed to be a number of interrelated genetic causes; despite the prevalence of osteoarthritis, only two genetic links had ever been made.

But by collaborating with The 1000 Genomes Project, an international team of scientists led by researchers at The Sanger Institute was able to conduct a massive genetic screen (eventually involving over 50,000 people) to identify a third genetic link: MCF2L.


Alan Silman, the Medical Director of Arthritis Research UK, said:

Osteoarthritis is a complicated disease with many genetic causes. However, it has proved very difficult to discover the genes involved and help us to identify potential areas of treatment.

We are delighted that investigators at the Sanger Institute have been able to identify a new gene connected with this painful condition and offer new lines of research for possible treatments. We are also excited that employing the technique of using the 1000 Genomes Project data to investigate genetic associations in far greater depth could reveal even greater insights into this debilitating disease.


4) A large scale multiple sclerosis (MS) gene study doubles the number of genes known to play a role in the disease
Research published this month in the journal Nature uncovered 29 new genes that underlie the development of MS, an inflammatory disease that leads to communication issues between nerve cells in the brain and spinal cord. The impressive genetic study drew on resources from twenty-three research groups from 15 countries; according to the researchers, their findings double the number of genes implicated in the onset and progression of MS.

"We now know just how complex multiple sclerosis is," said geneticist Jonathan Haines, director of Vanderbilt University's Center for Human Genetic Research (CHGR) and one of the project's head researchers. "These new genes give us many new clues as to what is happening in MS and will guide our research efforts for years to come."


3) RGS17 could be used to identify patients who would benefit from more aggressive lung cancer screening
Despite the fact that smoking certainly contributes to the development of lung cancer, the fact remains that a significant genetic component makes lung cancer the leading cause of cancer related disease and death. Now Cancer Biologists at the University of Cincinnati showed that identifying the gene RGS17 in patients with a history of lung cancer could help improve courses of treatment for the disease.

"Understanding how the RGS17 gene impacts cancer development could change clinical diagnosis and treatment as radically as discovery of the breast cancer genes (BRCA1 and BRCA2) did," explains Marshal Anderson, who led the study and has headed up the multi-institutional Genetic Epidemiology of Lung Cancer Consortium (GELCC) since 1997. "A proven genetic test could help us identify people at risk before the disease progresses."


2) Massive genetic screen uncovers 5 new genes that increase the risk of developing Alzheimer's Disease
Cardiff University's Julie Williams recently led the world's largest-ever genetic investigation of Alzheimer's, screening around 20,000 people with the disease and 40,000 unaffected individuals to identify five new Alzheimer's-linked genes, doubling the total number of genes known to increase the risk of developing Alzheimer's.

The results of the investigation, which were published in an April issue of Nature Genetics (no subscription required) are helping researchers identify promising new avenues of research.


Williams said: "What's exciting is the genes we now know of - the five new ones, plus those previously identified – are clustering in patterns." She continues:

This study, plus our previous studies, means that we are beginning to piece together the pieces of the jigsaw and gain new understanding. We still have a long way to go – but the jigsaw is beginning to come together.

If we were able to remove the detrimental effects of these genes through treatments, we hope we can help reduce the proportion of people developing Alzheimer's in the long-term.


1) International team identifies 13 new gene sites associated with heart disease
The World Health Organization estimates that heart diseases claim upwards of 17 million lives a year, making them the world's deadliest class of diseases. Just like lung cancer, while environmental factors like smoking and drinking certainly put people at higher risk of developing cardiovascular diseases, there is believed to be a strong genetic component to them as well.

In March of this year, an international team of scientists published the results of a study that analyzed the genetic profiles of over 80,000 people, making it the largest screen for heart-disease related genes ever conducted (around ten times larger, to be exact). The study confirmed 10 of 12 previously reported heart-disease-related genes, and identified 13 new ones.


Interestingly, many of the newly identified genes have no known relation to previously identified cardiovascular risk factors like cholesterol or hypertension, which suggests that there are promising therapeutic mechanisms yet to be discovered.

"The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results," explains Dr. Sekar Kathiresan, the director of Preventive Cardiology at Massachusetts General Hospital and one of the study's lead authors. "If these variants do not act through known mechanisms, how do they confer risk for heart disease? It suggests there are new mechanisms we don't yet understand."


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