Archive for the ‘Personalized Medicine’ Category

How genes interact with their environment to cause disease

A new study reveals how human genes interact with their environment to boost disease risk. The findings shed light on why the search for specific gene variants linked to human diseases can only partly explain common disorders.

Minor variations in one gene may be associated with endurance running

A few minor variations in one gene may make a difference in athletic endurance, according to a new study.

New DNA technique leads to a breakthrough in child cancer research

Researchers have used novel technology to reveal the different genetic patterns of neuroblastoma, an aggressive form of childhood cancer. The discovery may lead to significant advances in the treatment of this malignant disease, which mainly affects small children.

Melanoma transcriptome reveals novel genomic alterations not seen before

Melanoma, the most deadly form of skin cancer, afflicts more than 50,000 people in the United States annually and the incidence rate continues to rise. In a new study, scientists have delved deeper than ever before into the RNA world of the melanoma tumor and identified genomic alterations that could play a role in the disease.

Enzyme deficiency protects hepatitis C patients from treatment-related anemia

Many people who undergo treatment for hepatitis C develop hemolytic anemia, a disorder that destroys red blood cells. In some cases, it is so severe they have to reduce their medication or stop therapy altogether. But now, scientists have discovered two genetic alterations linked to a benign enzyme condition that keep some patients anemia-free.

Genetic link between misery and death discovered; novel strategy probes ‘genetic haystack’

Researchers have discovered what they describe as a biochemical link between misery and death, and in addition found a specific genetic variation that seems to break that link. Additionally, they have developed a computer model of gene-environment interactions to more efficiently probe the “genetic haystack.”

Gene signature may improve colon cancer treatment

A gene signature, first identified in mouse colon cancer cells, may help identify patients at risk of colon cancer recurrence, according to a recent study. The findings could help personalize treatments for colon cancer — the second leading cause of cancer-related deaths in the United States — by identifying patients most likely to benefit from chemotherapy.

Age-associated defects in schizophrenia: Gene network-based analysis reveals unexpected results

The underlying causes of the debilitating psychiatric disorder schizophrenia remain poorly understood. In a new study, however, scientists report that a powerful gene network analysis has revealed surprising new insights into how gene regulation and age play a role in schizophrenia.

Herceptin and Tykerb effective against a subset of gastric cancers, study suggests

A combination of two targeted therapies already shown to be effective in breast cancer packs an effective one-two punch against a subset of gastric cancers that have a specific genetic mutation, a new study has found.

Early test for a killer of the sickest

An early test for fungal infections that measures how a patient’s genes are responding could save the lives of some very sick patients. Researchers have devised an early gene-expression test for the fungal pathogen Candida that worked in mice.

Critical brain chemical shown to play role in severe depression

The next advance in treating major depression may relate to a group of brain chemicals that are involved in virtually all our brain activity, according to a new study. This study shows that compared to healthy individuals, people who have major depressive disorder have altered functions of the neurotransmitter GABA (gamma-aminobutyric acid).

Researchers find oncogene is important in pancreatic cancer growth and spread

Researchers have found that PKC-iota (PKC-i), an oncogene important in colon and lung cancers, is over-produced in pancreatic cancer and is linked to poor patient survival. They also found that genetically inhibiting PKC-i in laboratory animals led to a significant decrease in pancreatic tumor growth and spread.

Studies on nutrients, gene expression could lead to tailored diets for disease prevention

A new research article examines the potential for nutrigenomics, a field that studies the effects of food on gene expression. The researchers discussed the possibility of using food to prevent an individual’s genes from expressing disease. They said nutrigenomics could completely change the future of public health and the food and culinary industries.

Personalized medicine in warfarin therapy

Researchers have developed a rapid, multiplexed genotyping method to identify the single nucleotide polymorphisms (SNPs) that affect warfarin dose.

One third of breast cancer patients feel they do not fully understand their genomic testing results

A new study has found that one in three early-stage breast cancer patients who received genomic testing when deciding about treatment options felt they did not fully understand their discussions with physicians about their test results and their risk of recurrence.

Trial launched to test new treatment for pre-invasive breast cancer

Can a drug that has been used to treat malaria for years possibly be used to treat breast cancer before it becomes invasive? That’s what researchers are now trying to prove.

Genome-wide study of alcohol dependence points to chromosome 11

Both genetic and environmental factors affect susceptibility to alcohol dependence (AD). To date, researchers have identified several genes associated with AD. Findings from a new genome-wide association study support an association between AD and a cluster of genes on chromosome 11.

First inherited prostate cancer genetic mutation in African-American men identified

Researchers have discovered, for the first time, a genetic mutation in African-American men with a family history of prostate cancer who are at increased risk for the disease. The team identified an inheritable genetic defect in the receptor for the male hormone, androgen (testosterone), that may contribute to the development of prostate cancer and its progression.

Finding Charcot-Marie-Tooth gene ends a quest and begins new era of personalized genomic medicine

Baylor College of Medicine’s Dr. James Lupski came to the end of a personal quest earlier this year when the Baylor Human Genome Sequencing Center sequenced his complete genome and identified the gene involved in his own form of Charcot-Marie-Tooth syndrome, which affects the function of nerves in the body’s limbs, hands and feet. At the same time, the finding opened a new door showing that genome information has clinical importance.

Effort aims to spike breast cancer with new approach

Many women live with breast cancer that does not respond to standard medical treatment, a condition that researchers want to change by aggressively targeting specific genes.

Sexual function does not continuously decline after radiation therapy treatments for prostate cancer, study finds

Sexual function in prostate cancer patients receiving external beam radiation therapy decreases within the first two years after treatment but then stabilizes and does not continuously decline as was previously thought, according to a new study.

Genetic differences between lethal and treatable forms of leukemia discovered

A tumor’s genetic profile is often useful when diagnosing and deciding on treatment for certain cancers, but inexplicably, genetically similar leukemias in different patients do not always respond well to the same therapy. Researchers believe they may have discovered what distinguishes these patients by evaluating the “epigenetic” differences between patients with acute myeloid leukemia.

Unraveling kidney cancer: Mutations in the genome regulation machinery identified in clear cell renal cell carcinoma

Scientists have searched for mutations in more than 100 kidney cancer samples, the largest number of samples from a single tumor type to be sequenced to date. They looked for mutations in 3,544 genes to investigate the complexity within this cancer type, which is typically associated with mutations in a gene called VHL. Despite this prevalent genetic signature, the team revealed substantial genetic heterogeneity, suggesting that a complex machinery contributes to the development of cancer.

Blood test could improve graft-versus-host disease treatment

Researchers have identified the first biomarker of graft-versus-host disease of the skin. The discovery makes possible a simple blood test that should solve a treatment dilemma facing doctors with patients who frequently develop rashes after bone marrow transplants.

SNPs in C-reactive protein are not associated with increased risk of cancer

Gene variants associated with increased circulating levels of C-reactive protein, a marker of inflammation, are not associated with an increased risk of cancer, according to a new study.

Genetic variations indicate risk of recurrence, secondary cancer among head and neck cancer patients

Eighteen single-point genetic variations indicate risk of recurrence for early-stage head and neck cancer patients and their likelihood of developing a second type of cancer, researchers report.

Higher risk for heart disease and diabetes associated with androgen deprivation therapy

Men of all ages treated for prostate cancer with androgen deprivation therapy, specifically with gonadotropin-releasing hormone agonists, have an increased risk of diabetes and cardiovascular disease, according to a new study.

Type 2 diabetes gene predisposes children to obesity, study finds

Pediatric researchers have found that a gene already implicated in the development of type 2 diabetes in adults also raises the risk of being overweight during childhood. The finding sheds light on the genetic origins of diabetes and may present an avenue for developing drugs to counteract the disease, which has been on the upswing in childhood and adolescence.

Genetic predeterminants for diabetes in African-Americans identified

Researchers say a recent discovery suggests that inherited genetic variations exist between whites and blacks living in the US, leading to less efficient metabolism of glucose and predisposition to diabetes in blacks.

New mouse could help understand how some lung cancer cells evade drug treatment

A new study describes the development of drug resistance in mice with lung cancer. The lung tumors in mice result from changes similar to those seen in human patients. Also like humans, these tumors initially respond to drug treatment but eventually become resistant to therapy. Studying lung cancer cells in this model should provide insight into the mechanisms that make lung cancer cells resistant to current treatment methods and uncover new therapeutic targets.

Sonic Hedgehog variations linked to recurrence, survival and response to therapy of bladder cancer

Genetic variations in the Sonic Hedgehog pathway increase the likelihood of recurrence, reduce survival time and limit response to therapy for people with non-muscle invasive bladder cancer, scientists report.

Possible ovarian cancer treatment target identified

A multi-institutional study has identified a potential personalized treatment target for the most common form of ovarian cancer. The research team discovered that a gene called MAGP2 — not previously associated with any type of cancer — was overexpressed in papillary serous ovarian tumors of patients who died more quickly. They also found evidence suggesting possible mechanisms by which MAGP2 may promote tumor growth.

Popular diabetes drugs linked to increased risk of heart failure and death, study suggests

Sulphonylureas, a type of drug widely used to treat type 2 diabetes, carries a greater risk of heart failure and death compared with metformin, another popular anti-diabetes drug.

High-risk women reluctant to take tamoxifen to prevent breast cancer

Even when women at high-risk of breast cancer are well-informed about the risks and benefits of using the drug tamoxifen for prevention, only 6 percent said they were likely to take it.

PSA value at 2 years post-treatment can predict long-term survival in prostate cancer patients

Prostate cancer patients who have a prostate-specific antigen value of less than or equal to 1.5 at two years after external beam radiation therapy are less likely to have a cancer recurrence and cancer-related death, according to a new study.

Heart failure linked to gene variant affecting vitamin D activation

Previous studies have shown a link between low vitamin D status and heart disease. Now a new study shows that patients with high blood pressure who possess a gene variant that affects an enzyme critical to normal vitamin D activation are twice as likely as those without the variant to have congestive heart failure.

Discovery leads to effective treatment of painful skin condition

Researchers have discovered a remarkable treatment for a rare, yet debilitating, skin condition.

Systems biology approach provides insulin resistance insights

Researchers recently offered the sharpest-yet picture of how core biochemical pathways in skeletal muscle cells and fat cells are altered in people who suffer from insulin resistance — a primary defect in type 2 diabetes and obesity. Taking a systems biology approach, the bioengineers and medical researchers also determined how a common class of drugs for treating insulin resistance — TZDs — alter these same core pathways.

Genetic analysis helps dissect molecular basis of cardiovascular disease

Using highly precise measurements of plasma lipoprotein concentrations determined by nuclear magnetic resonance spectroscopy, researchers performed genetic association analysis across the whole genome among 17,296 women of European ancestry. This large scale analysis of the effects of common genetic variation on plasma lipoprotein profile, a critical component of cardiovascular risk, identified 43 genetic loci contributing to lipoprotein metabolism.

Largest gene study of childhood inflammatory bowel disease identifies five new genes

In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease, scientists have identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease. Although much research remains to be done, the study may provide a basis for developing drugs that target a protein on the pathway, for patients with the implicated gene variant.

FDA Approved Leukemia Drugs Shows Promise In Ovarian Cancer Cells

The drug Sprycel, approved for use by the US Food and Drug Administration in patients with chronic myeloid leukemia, significantly inhibited the growth and invasiveness of ovarian cancer cells and also promoted their death, a new study has found.

Proton Therapy Is Well-tolerated In Prostate Cancer Patients

Proton beam therapy can be safely delivered to men with prostate cancer and has minimal urinary and rectal side effects, according to a new study.

Three-week Course Of Breast Radiation May Be As Effective As Conventional 5- To 7-week Course For Early Breast Cancers

A new study shows that a shortened, more intensive course of radiation given to the whole breast, along with an extra dose of radiation given to the surgical bed of the tumor (concomitant boost), has been shown to result in excellent local control at a median follow up of two years after treatment with no significant sides effects.

Findings Key For Understanding, Interpreting Genetic Testing For Long QT Syndrome

Results of a long QT syndrome (LQTS) study play an important role in understanding genetic testing’s role in diagnosing disease, according to researchers.

Finding May Help Some Tonsil Cancer Patients Avoid Chemotherapy

Clinical researchers have confirmed that patients with oropharyngeal squamous cell cancer (”tonsil cancer”) harbor a common type of human papilloma virus (HPV16), but also that such cancers are very sensitive to radiation. For some patients, this may mean successful treatment with radiation alone and avoiding the side effects of chemotherapy.

Is Short-term Celecoxib Intervention A Effective Method For Preventing Gastric Carcinogenesis?

Helicobacter pylori has been accepted as an important pathogen inducing gastric cancer. A research group from Taiwan investigated optimal intervention point of Celecoxib, to inhibit H. pylori-associated gastric carcinogenesis in Mongolian gerbils. They found that short-term use resulted in less severe inflammation and inhibited the invasion degree of gastric cancer. Therefore, Celecoxib could be used in the later stages of H. pylori infection to achieve safe and effective chemoprevention of gastric adenocarcinoma.

Drug-radiation Combo Eradicates Lung Cancer In Mice

Researchers have eliminated non-small cell lung cancer in mice by using an investigative drug called BEZ235 in combination with low-dose radiation.

Geneticists Hunt For Scleroderma Triggers

At its most benign, the autoimmune disease scleroderma can discolor parts of the skin of its sufferers. At its most pernicious, it can thicken and harden their skin, their blood vessels, and their internal organs before, in many cases, killing them. Geneticists now report a closer connection between a gene profile for the profibrotic pathway TGF-beta and a tendency in some scleroderma sufferers to develop lung problems.

Screening Guidelines For Breast, Cervical And Colorectal Cancers Redefined

Drawing on years of experience in cancer research and patient care, the University of Texas M. D. Anderson Cancer Center released today the most comprehensive, risk-based screening guidelines publicly available to date for breast, cervical and colorectal cancers.

Possible Link Between Autism And Oxytocin Gene Via Non-DNA Sequence Mutation

Researchers have uncovered a new genetic signature that correlates strongly with autism and which doesn’t involve changes to DNA sequence. The changes are to the way the genes are turned on and off. The finding may suggest new approaches to diagnosis and treatment of autism. The researchers found higher-than-usual numbers of gene-regulating molecules called methyl groups in a region of the genome that regulates oxytocin receptor expression in people with autism.