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Geneticist Jennifer Doudna co-invented a groundbreaking new technology for editing genes, called CRISPR-Cas9. The tool allows scientists to make precise edits to DNA strands, which could lead to treatments for genetic diseases … but could also be used to create so-called "designer babies." Doudna reviews how CRISPR-Cas9 works - and asks the scientific community to pause and discuss the ethics of this new tool.

In a unique twist on human genomics studies that seek to identify genetic variants linked to human disease, researchers have combined whole-exome sequencing of 50,726 adults with the individuals' long-term electronic health record (EHR) data. The effort, by researchers at the Geisinger Health System in Pennsylvania and Regeneron Genetics Center, a subsidiary of New York-based Regeneron Pharmaceuticals, has yielded novel disease-linked variants, including loss-of-function alleles. The team behind the project, called DiscovEHR, has also found that about one in 30 of the individuals harbors a deleterious genetic variant for which a screen or treatment already exists. The group's analysis is described in two papers published today (December 22) in Science.

In the largest study of its kind, a research team has meshed extensive genome data on more than 50,000 people with their electronic health records and identified potential new disease-causing genes. The data further suggest that about one in 250 people may harbor a gene variant that puts them at risk for heart attacks and strokes, yet aren't receiving adequate treatment.

TeensHealth- all about flu, prevention, treatment, when to get help

Parkinson's is a result of the loss of cells in various parts of the brain, including one portion that produces the neurotransmitter dopamine. Dopamine is essential for being able to move in a coordinated way, so the loss of dopamine causes the tremors often associated with the condition. While the exact cause of Parkinson's is unknown, genetics and environment are contributing factors. Most cases occur in patients with no family history of Parkinson's disease, but there are 13 gene mutations that have been linked to either causing the disease or increasing one's risk of developing it. Certainly not everyone who carries these gene mutations develops Parkinson's, but identifying these genetic indicators is the beginning of developing more precise treatments.

This dilemma/decision case study is intended to demonstrate how knowledge of signal transduction pathways can be applied to the pharmaceutical industry and within a medical setting. The case scenario revolves around a physician scientist's analysis of a chronic myelogenous leukemia (CML) patient's resistance to the cancer drug Gleevec® (imatinib). Students explore the molecular targets of drugs that inhibit cell signaling, while considering the best course of treatment for the medical patient. Written for an undergraduate sophomore level cell biology course, the case is also suitable for general biology, genetics, molecular biology, pharmacology, and cancer biology.

Known officially as the Tuskegee Study of Untreated Syphilis in the Negro Male, the 40-year experiment run by Public Health Service officials followed 600 rural black men in Alabama with syphilis over the course of their lives, refusing to tell patients their diagnosis, refusing to treat them for the debilitating disease, and actively denying some of them treatment.

Five people living with HIV are currently free of the detectable virus after taking part in a new vaccine-based therapy.  The patients are also not taking daily antiretroviral drugs, with one having been drug free for a total of seven months; a milestone moment in a move towards a future where HIV treatment doesn't require ART.

For researchers, understanding how cancer cells function differently from normal cells lays the foundation for developing treatments designed to rid the body of cancer cells without damaging normal cells.

Advanced prostate cancer treatment

At the annual meeting of the American Association for Cancer Research in Washington DC this week, Wolchok and other researchers will report on their search for immunotherapy markers - ways to predict a patient's response to an immunotherapy or to show whether a given treatment is working. The work is hampered by the complexity of the immune system, but early results are converging on one point: that patients' own immune responses to cancer are crucial in determining outcomes.

Cancer defined with risk factors and treatments

Multiple sclerosis is an autoimmune condition in which components of the immune system mistakenly attack the fatty lining around nerves in the brain and spinal cord. The majority of drugs currently used to tackle the symptoms of MS, therefore, focus on preventing this destruction by targeting the immune system. But a team of scientists think they may have found a different approach to treatment: targeting stem cells already present in the patient's nervous system.

In 1932, the Public Health Service, working with the Tuskegee Institute, began a study to record the natural history of syphilis in hopes of justifying treatment programs for blacks. It was called the "Tuskegee Study of Untreated Syphilis in the Negro Male."

Within a year, Stein's team had designed a clinical trial protocol that turned standard research practices around 180 degrees, launching what it now calls the Signature Clinical Trial Program. Instead of a patient traveling to one of several research sites, Novartis would send the investigational drugs to his or her local oncologist's office. Instead of testing hundreds or thousands of genetically unscreened patients, the company would accept only patients who had the genetic markers the drugs were supposed to target. Instead of waiting months, patients could access the treatments in two or three weeks. Instead of running a large-scale trial to investigate one or two questions, clinicians could conduct smaller, rapid proof-of-concept studies to quickly rule out the tumor types that don't respond to a study agent and identify other tumor types that are potentially treatable with the drug and worthy of further study.

This case study introduces students to the structure and function of cellular organelles and seeks to show their importance by discussing diseases and disorders that can result when an organelle does not function as it should. The storyline follows a family whose joy at bringing home a new baby is soon altered by their child's sudden illness, which is eventually diagnosed as Leigh Disease. This disease occurs when defective mitochondria fail to produce energy needed by the cell, particularly affecting cells with high-energy needs like those in the brain, muscle, and gastrointestinal tract. The narrative also discusses some of the ways in which Leigh disease is inherited, treatment options, and the typical prognosis. The case was designed for an introductory non-majors biology course, but could also be used in other science or health related courses. Instructors also have the option of running the case in a "flipped classroom" in which students watch three recommended videos outside of class as a way of preparing for working on the case in class.

Current CRISPR-based screens often mutate the beginning of a gene, which sometimes results in the expression of a functional protein variant. To circumvent this problem, researchers at Cold Spring Harbor Laboratory (CSHL) designed CRISPR guide RNAs that would mutate the portion of a gene encoding a domain on the surface of the protein where a small molecule could bind to alter the protein's function. The team had previously identified such a binding pocket on the protein BRD4, and a small molecule inhibitor that binds in the pocket is an effective leukemia treatment.

Now, University of Missouri researchers have determined that a compound found in green tea, and voluntary exercise, slows the progression of the disease in mice and may reverse its effects. Further study of the commonly found extract could lead to advancements in the treatment and prevention of Alzheimer's disease in humans.

A multicenter study has identified an FDA-approved medication that prolongs survival in mice with diffuse intrinsic pontine glioma, a brain tumor that now lacks chemotherapy treatments.

Huntington disease is caused by a mutation in the HTT gene. Understanding how the mutation causes neurodegeneration might help researchers develop treatments that protect brain function. This animation describes the genetic defect that underlies Huntington disease. Created by the editors at Nature Reviews Disease Primers.