Tag: Personalized Medicine

It was long believed the FMR1 premutation — an excessive number of trinucleotide repeats in the FMR1 gene — had no direct effect on the people who carry it. Until recently, the only recognized effect on the carriers of the flawed gene was the risk of having offspring with fragile X syndrome, a rare but

Children with a high genetic risk of developing type 1 diabetes have different gut microbiomes than children with a low risk, according to a new study from Linköping University in Sweden and the University of Florida in the US. The results published in the scientific journal Nature Communications suggest that genetic risk can shape an

Diabetes is a global health concern expected to affect 693 million people worldwide by 2045. It’s been well documented how diet and exercise influence risk of type 2 diabetes; however, a new study suggests that early menarche also is associated with a higher risk, but body mass index (BMI) may mediate this association. Study results

A worldwide coalition of researchers and clinicians has agreed that light therapy is among the most effective interventions for the prevention of oral mucositis, painful ulcers in the mouth resulting from cancer therapy. The new guidelines from the Multinational Association of Supportive Care in Cancer (MASCC) and International Society of Oral Oncology (ISOO), published on

Research led by the University of Birmingham has found important new ways that the BRCA1 gene functions which could help develop our understanding of the development of ovarian and breast cancers. The research, published in Nature today (July 3rd), was led by experts at the University of Birmingham’s Birmingham Centre for Genome Biology and Institute

More than half of patients with relapsed multiple myeloma treated with carfilzomib experienced cardiac issues during treatment, according to a multi-institutional study published June 12 in Journal of Clinical Oncology. The study recommends that patients undergo a detailed cardiovascular history before being prescribed carfilzomib and then be monitored with natriuretic peptide testing, an indicator for

Treatment with gabapentinoids — a group of drugs used for epilepsy, nerve pain and anxiety disorders — is associated with an increased risk of suicidal behaviour, unintentional overdose, injuries, and road traffic incidents, finds a study from Sweden published by The BMJ today. Prescriptions have risen steeply in recent years, and gabapentinoids are among the

An international consortium of scientists has analyzed protein-coding genes from nearly 46,000 people, linking rare DNA alterations to type 2 diabetes. The study, one of the largest known of its type, includes data from people of European, African American, Hispanic/Latino, East Asian, and South Asian ancestries. From this large cohort — roughly 21,000 individuals with

An anterior cruciate ligament (ACL) tear, an injury of the knee, can be devastating to a young athlete. While the ACL can be reconstructed through surgery, there is a high risk of re-injury in patients under the age of 25. In the largest clinical trial of its kind, researchers at Lawson Health Research Institute have

Bochum-based psychologists have studied how the application of the stress hormone cortisol affects exposure therapy for anxiety disorders. The researchers knew from earlier studies that extinction learning, which constitutes the foundation of exposure therapy, can be reinforced by administering cortisol. However, the team headed by Professor Armin Zlomuzica at Zentrum für Psychotherapie (psychotherapy centre) at

A multi-institutional clinical trial has given good results for a targeted therapy to treat a rare, aggressive blood cancer known as blastic plasmacytoid dendritic-cell neoplasm (BPDCN). Details on the trial, which supported Food and Drug Administration approval of the tagraxofusp therapy in December 2018, have been published in the New England Journal of Medicine. Diagnosed

An analysis of the reports and materials provided by commercial laboratories offering noninvasive prenatal screening (NIPS) for genetic disorders finds that none of them fully meet the recommendations published by the American College of Medical Genetics and Genomics (ACMG). The report from a team of specialists in medical genetics is being published in the journal

What makes a biological clock tick? According to a new study from U of T Mississauga, the surprising answer lies with a gene typically associated with stem and cancer cells. In the first study of its kind for the field of circadian biology, UTM researchers used RNA sequencing to observe the expression of genes in

Many complex systems in biology can be conceptualized as networks. This perspective helps researchers understand how biological systems work on a fundamental level, and can be used to answer key questions in biology, medicine, and engineering. Blood flow in the brain is a prime example. Blood travels through a network of vessels and can be

Many individuals cite prescription opioids as their gateway to illicit opioid use. However, while prescription opioids are involved in more than one-third of all opioid overdose deaths in the U.S., examining any correlation between prescription opioid overdose deaths and pharmaceutical industry marketing has been limited — until now. New research from NYU School of Medicine

Almost half of all Americans take a vitamin supplement, and yet many large-scale, placebo-controlled clinical trials of various supplements have found little or no benefit. A new study led by investigators from Brigham and Women’s Hospital suggests an intriguing reason for this: genetic variation may be influencing these effects, increasing risk in some individuals while

A powerful new biochemical platform is fueling the study of a family of enzymes that are promising targets for cancer treatment. Published today in Science Advances, the new method provides a high-resolution view of how these enzymes, called lysine methyltransferases, selectively mark proteins with chemical tags that alter their function. Because of their central role

The CRISPR genome editing technique promises to be a “transformative leap” in genetic engineering and therapy, affecting almost every area of medicine. That includes plastic surgery, with potential advances ranging from prevention of craniofacial malformations, to therapeutic skin grafts, to new types of rejection-free transplants, according to a paper in the November issue of Plastic

Since 2013, gifts and payments to doctors by pharmaceutical and medical device companies have been publicly reported. In addition, some medical centers, physician employers, such as Kaiser Permanente, and states have banned or restricted detailing visits, physician payments or gifts. Some manufacturers have also changed their practices for certain gifts. In order to better understand

Parents of newborns may be familiar with the metabolic disorder phenylketonuria: in Switzerland, all newborn babies are screened for this genetic disease. If a baby is found to have phenylketonuria, it needs a special diet so that the amino acid phenylalanine does not accumulate in the body. Excess phenylalanine delays mental and motor development. If