News • Solving a medical mystery
Cause of rare type of dwarfism discovered
Scientists have uncovered the cause of Saul-Wilson syndrome: A single, spontaneous gene change alters protein packaging in the cell’s Golgi complex, causing the disease.
Genetics
News • Science
Why are some human genes more popular with researchers than others?
Historical bias is a key reason why biomedical researchers continue to study the same 10 percent of all human genes while ignoring many genes known to play roles in disease, according to a study led by Thomas Stoeger and Luís Amaral of Northwestern University, and colleagues. This bias is bolstered by research funding mechanisms and social forces.
News • Myelodysplastic syndrome
Genetic testing helps predict disease recurrence
A DNA-based analysis of blood cells soon after a stem cell transplant can predict likelihood of disease recurrence in patients with myelodysplastic syndrome (MDS), a group of cancerous disorders characterized by dysfunctional blood cells. Such a practice could help doctors identify patients at high risk of disease recurrence early after a transplant and help guide treatment decisions.
News • Debilitating disease
Discovery of a new anti-epileptic drug target
An international collaboration between Imperial College London, Singapore's Duke-NUS Medical School and Belgium-based pharmaceutical company UCB led to the discovery of a new anti-epileptic drug target and a whole new approach that promises to speed up the discovery of future drugs to treat debilitating diseases, such as epilepsy.
News • Research
Link between obesity, the brain, and genetics
Clinicians should consider how the way we think can make us vulnerable to obesity, and how obesity is genetically intertwined with brain structure and mental performance, according to new research. The study, led by researchers at the Montreal Neurological Institute and Hospital (The Neuro), was an examination of MRI and cognitive test data from 1,200 individuals, supplied as part of the Human…
News • Infectious disease
Evolution of leading cause of malaria outside of Africa
The genome sequences of ape parasites related to Plasmodium vivax (P. vivax), the main source of mosquito-borne malaria outside Africa, provide insights on the origin and early evolution of the human parasite. This finding could have implications for better comprehending and eradicating malaria infection worldwide.
News • Switching sides
How cancer cells 'brainwash' their foes
It doesn’t often happen that army generals switch sides in the middle of a war, but when cancer is attacking, it may cause even a gene that acts as the body’s master defender to change allegiance. Researchers at the Weizmann Institute of Science have discovered that this gene’s betrayal can occur in more ways than previously appreciated – and might even return the renegade cells to their…
News • Genome-editing
New platform could be the next generation of genetic medicine
A scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation of genetic therapies.
News • RNA sequencing
Overcoming a major barrier to developing liquid biopsies
The idea of testing blood or urine to find markers that help diagnose or treat disease holds great promise. A new study helps set standards for RNA sequencing, improving consistency and laying the foundation to move the field forward.
News • Single nucleotide polymorphism
Biosensor chip detects genetic mutation with higher sensitivity
A team led by the University of California San Diego has developed a chip that can detect a type of genetic mutation known as a single nucleotide polymorphism (SNP) and send the results in real time to a smartphone, computer, or other electronic device. The chip is at least 1,000 times more sensitive at detecting an SNP than current technology. The advance could lead to cheaper, faster and…
News • Gene editing
Why CRISPR fails sometimes – and what to do about it
CRISPR has recently become synonymous with precise genetic editing. However, the mighty tool has been known to fail from time to time. Now, researchers have found out why.
News • Brain cancer
Typical mutation in cancer cells stifles immune response
The exchange of a single amino acid building block in a metabolic enzyme can lead to cancer. In addition, it can impair the immune system. It thus blocks the body’s immune response in the battle against the mutant molecule and also impedes immunotherapy against brain cancer. This finding opens new insights into cancer development and progression and it also suggests that rethinking antitumor…
Article • Questioning the Genetic Diagnostics Act
Self-help healthcare or face a penalty?
The fact that genetic research can reveal hereditary diseases has been transferred to medical practice for some time and, since 2010, the Gene Diagnostics Act (GenDG) has regulated permissible DNA tests in medical diagnostics and pedigree in Germany. The procedure has great potential, says Professor Jochen Taupitz - but also great risks are associated with it.
News • Research
Gene discovery unlocks mysteries of our immunity
Australia's national science agency CSIRO has identified a new gene that plays a critical role in regulating the body's immune response to infection and disease.
News • Faster diagnosis, reduced cost
The impact of whole genome sequencing on newborn babys in ICU
Early whole genome sequencing might bring hope for children who are born severely ill or who develop serious illness in the first few weeks of their life. Because these children are often difficult to diagnose, detection of diseases has considerable implications for their short and longer-term care. At the annual conference of the European Society of Human Genetics (ESHG) in Milan, Italy, the…
News • Old as mice
When less is more: Gene switch for healthy aging found
Aging is a major risk factor for physical frailty and the development of age-related diseases such as cancer, cardiovascular diseases, type II diabetes and Alzheimer's disease. Numerous studies have already shown that a calorie-restricted diet can significantly delay age-related conditions in several organisms like flies, worms, fish and mice, and that it even improves fitness at old age. But who…
News • High throughput screening
Tumor-like spheres to help discover smarter cancer drugs
Cancer is a disease often driven by mutations in genes. As researchers learn more about these genes, and the proteins they code for, they are seeking smarter drugs to target them. The ultimate goal is to find ways to stop cancer cells from multiplying out of control, thereby blocking the growth and spread of tumors. Now researchers from The Scripps Research Institute are reporting an innovative…
Video • Gender & genetics
Alzheimer's: study reveals sex differences
The APOE gene, the strongest genetic risk factor for Alzheimer’s disease, may play a more prominent role in disease development among women than men, according to new research from the Vanderbilt Memory and Alzheimer’s Center. The research confirmed recent studies that carrying the APOE ε4 allele has a greater association with Alzheimer’s disease among women compared to men, and went one…
News • Music for life
Massive Attack to last forever – in DNA form
The digital audio of an entire music album is to be stored in the form of genetic information for the first time, using technology developed at ETH Zurich. Coded in DNA molecules and poured into tiny glass beads, an album by Massive Attack will be preserved – practically for eternity. The British band Massive Attack are considered pioneers of trip hop, an atmospheric style of electronic music…
Video • Wolbachia
Little-known bacteria might grind Zika and dengue infections to a halt
A Vanderbilt team took the next leap forward in using a little-known bacteria to stop the spread of deadly mosquito-borne viruses such as Zika and dengue. Wolbachia are bacteria that occur widely in insects and, once they do, inhibit certain pathogenic viruses the insects carry. The problem with using Wolbachia broadly to protect humans is that the bacteria do not normally occur in mosquitoes…
News • Fact-checking
Inherited cancer and genetic testing - looking beyond the myths
Cancer is a genetic disease caused by abnormal changes over time to genes that control cell function, typically starting in a single cell (an acquired mutation) and often not linked to an inherited genetic mutation. In other words, most cancers happen by chance. Only about 5 to 10 percent of cancers are due to an inherited genetic mutation, says Monique Lubaton, MGC, CGC, cancer genetic counselor…
News • Life expectancy
Mole-rats might teach us how to become old and healthy
Humans and other mammals have a lot in common. Depending on race, 80 to 98% of mammalian genetic makeup is identical to the human one. Nevertheless, the variety of life expectancy among mammals is huge; and so far, it was unclear, which impact the genetic makeup has on a species’ life span. In rodents, differences in life expectancy and morbidity during aging are particularly high: Despite…
News • DNA research
Stroke: largest-ever genetic study provides new insight
An international research group, including scientists at the University of Maryland School of Medicine, studying 520,000 people from around the world has identified 22 new genetic risk factors for stroke, tripling the number of gene regions known to affect stroke risk. The results show that stroke shares genetic influences with other vascular conditions, especially blood pressure, but also…
News • Triggering inflammatory reactions
Parkinson’s gene initiates disease outside of the brain
Until very recently, Parkinson’s had been thought a disease that starts in the brain, destroying motion centers and resulting in tremors and loss of movement. New research published this week, shows the most common Parkinson’s gene mutation may change how immune cells react to generic infections like colds, which in turn trigger the inflammatory reaction in the brain that causes…
News • Breast cancer
Double mastectomy slashes risk - but not for all women
Healthy women who carry a breast cancer-causing mutation in the BRCA1 gene, not only reduce their risk of developing the disease but also their chances of dying from it if they have both breasts removed, according to new research presented at the 11th European Breast Cancer Conference. However, the study also found that for women with a mutation in the BRCA2 gene, there was no difference in their…
