Several factors, such as race, donor age, and compliance with immunosuppressive agents, affect the survival of grafts after transplantation. There has been recent interest in the role of donor and recipient genetics in allograft survival, with extensive studies being conducted to evaluate this relationship. One such study published in the latest issue of The Journal of the American Medical Association reported that the presence of the gene caveolin-1 (CAV1) variant is associated with a high risk of renal allograft failure. Continue Reading

Heart transplant recipients are required to undergo routine biopsy tests throughout their lifetime in order to monitor the risk for organ rejection; the procedure usually being uncomfortable and nerve-wrecking. Now, a recent study reports that the blood test, AlloMap® (XDx, Inc.), in addition to clinical and echocardiogram evaluation, could help determine the risk for rejection and thereby safely reduce the number of endomyocardial biopsies to be performed. The findings of the multicentered, invasive monitoring attenuation through gene expression (IMAGE) trial are published in the recent online issue of the New England Journal of Medicine. Continue Reading

Women with BRCA1 or 2 (breast cancer 1 or 2, early onset) mutations are known to be at an increased risk for breast cancer. Once such mutations are detected by genetic testing, the carriers are offered regular surveillance and prophylactic treatment (chemoprevention or prophylactic surgery). However, the usefulness of these prophylactic measures has been a topic of much debate. Now, a study conducted by Dutch researchers has demonstrated that prophylactic mastectomy (PM) is highly effective in preventing the development of invasive breast cancer in BRCA1 or 2 mutation carriers. The results have been published in the latest issue of Annals of Surgery. Continue Reading

Preterm birth (PTB), which may be associated with long-term liabilities, is identified as the leading cause of all deaths during the first month of fetal life, globally, and contributes to substantial medical, economic, and psychological burden. Such births are attributed to cost the US healthcare system more than $26 billion, annually. Now, a recent case-control study published in the American Journal of Obstetrics & Gynecology reports the identification of maternal and fetal single nucleotide polymorphisms (SNPs) that enhance the risk for spontaneous preterm births (SPTB). Continue Reading

A collaborative study by an international group including researchers from the National Institutes of Health, Hannover Medical School, and University College London, has identified mutations in two genes, interleukin-10 receptor 1 (IL10R1) and interleukin-10 receptor 2 (IL10R2), that cause inflammatory bowel disease (IBD) in children. The discovery enabled researchers to bring about disease remission in one of the patient participants by allogeneic hematopoietic stem cell transplantation. The findings are published in the recent issue of The New England Journal of Medicine. Continue Reading

A recent systematic review and meta-analysis performed by Harvard Medical School researchers reports that people suffering from migraine with aura (MA) have a two-fold increased risk for ischemic stroke. Furthermore, the study suggests a magnified risk among migraineurs who are <45 years of age, smokers, and among women using oral contraceptives. The study results are published in the recent online issue of the British Medical Journal. Continue Reading

Studies conducted by various independent groups have confirmed the role of gene fusion, involving TMPRSS2 and ETS genes, in leading to prostate cancer. However, the underlying causative factor for this genetic alteration was poorly understood. Now, results of a recent study published in the journal Science have identified androgen as a triggering factor for inducing gene fusion. Continue Reading

In a genome-wide association study on Alzheimer disease (AD), considered the largest ever, an international team of researchers have identified two novel gene variants that may possibly increase the risk of developing late-onset Alzheimer, the most common form of the condition. The findings of the study are reported in the online issue of the journal Nature Genetics. Continue Reading

Two independent research teams in the UK and US have identified inherited genetic variants that raise the risk of developing childhood acute lymphoblastic leukemia (ALL). The findings, claimed to be the first evidence of the role of genetic inheritance in childhood ALL, are published in the recent issue of the journal, Nature Genetics. Continue Reading

Miscarriage occurs in 10%-25% of all clinically recognized pregnancies, with around <5% of women reporting 2 consecutive miscarriages and nearly 1% women experiencing ≥3 recurrent episodes of pregnancy loss. The etiology of miscarriage is unexplained in approximately 50%-75% of couples with recurrent pregnancy loss. Now a randomized controlled study, published in the recent issue of Human Reproduction, reports the potential of subcutaneous administration of granulocyte-colony stimulating factor (G-CSF) as an effective strategy to improve the pregnancy outcome in patients with idiopathic recurrent miscarriages. Continue Reading