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Summary: Researchers successfully sequenced the entire Y chromosome, previously considered the most elusive part of the human genome.

This feat enhances DNA sequencing accuracy for this chromosome, aiding the identification of genetic disorders. Using state-of-the-art technologies, the team pieced together over 62 million letters of genetic code.

This breakthrough, in tandem with the previous reference genome T2T-CHM13, offers the first complete genome for those with a Y chromosome.

Dr. Joni L. Rutter, Ph.D., (https://ncats.nih.gov/director/bio) is the Director of the National Center for Advancing Translational Sciences (NCATS — https://ncats.nih.gov/) at the U.S. National Institutes of Health (NIH) where she oversees the planning and execution of the Center’s complex, multifaceted programs that aim to overcome scientific and operational barriers impeding the development and delivery of new treatments and other health solutions. Under her direction, NCATS supports innovative tools and strategies to make each step in the translational process more effective and efficient, thus speeding research across a range of diseases, with a particular focus on rare diseases.

By advancing the science of translation, NCATS helps turn promising research discoveries into real-world applications that improve people’s health. The NCATS Strategic Plan can be found at — https://ncats.nih.gov/strategicplan.

Continue reading “Dr. Joni L. Rutter, Ph.D. — Director, National Center for Advancing Translational Sciences — NIH” »

“Microglia exhibit both maladaptive and adaptive roles in the pathogenesis of neurodegenerative diseases and have emerged as a therapeutic target for central nervous system (CNS) disorders, including those affecting the retina,” wrote the researchers. “Replacing maladaptive microglia, such as those impacted by aging or over-activation, with exogenous microglia that enable adaptive functions has been proposed as a potential therapeutic strategy for neurodegenerative diseases. To investigate the potential of microglial cell replacement as a strategy for retinal diseases, we first employed an efficient protocol to generate a significant quantity of human-induced pluripotent stem cells (hiPSC)-derived microglia.”

“Our understanding of microglia function comes predominantly from rodent studies due to the difficulty of sourcing human tissue and isolating the microglia from these tissues. But there are genetic and functional differences between microglia in mice and humans, so these studies may not accurately represent many human conditions,” explained lead author Wenxin Ma, a PhD, biologist at the Retinal Neurophysiology Section, National Eye Institute, National Institutes of Health.

“To address this concern, researchers have been growing human microglia from human stem cells. We wanted to take this a step further and see if we could transplant human microglia into the mouse retina, to serve as a platform for screening therapeutic drugs as well as explore the potential of microglia transplantation as a therapy itself,” added senior author Wai Wong, vice president of retinal disease, Janssen Research and Development.

The team used acupuncture needles to deliver the trigger for 10 seconds a day, and the blood sugar levels in the mice returned to normal within a month. The rodents even regained the ability to manage blood sugar levels after a large meal without the need for external insulin, a normally difficult feat.

Called “electrogenetics,” these interfaces are still in their infancy. But the team is especially excited for their potential in wearables to directly guide therapeutics for metabolic and potentially other disorders. Because the setup requires very little power, three AA batteries could trigger a daily insulin shot for more than five years, they said.

The study is the latest to connect the body’s analogue controls—gene expression—with digital and programmable software such as smartphone apps. The system is “a leap forward, representing the missing link that will enable wearables to control genes in the not-so-distant future,” said the team.

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Continue reading “Increase NAD With Fish Oil (And Other PUFA-Containing) Fatty Acids? Hypothesis” »

Summary: Researchers uncovered how distinct neuron types in the Drosophila fruit fly differentiate their functions despite originating from a similar genetic framework.

In the study, two closely related neuronal subtypes expressed more than 800 different genes (~5% of the fly genome) differently. This gene expression directly influenced the observable distinctions between the neuron types.

The findings help illuminate the brain’s intricate cell development and how disease could affect it.

“Because of the heterogeneity of this disease, scientists haven’t found good ways of tackling it,” said Olivier Gevaert, PhD, associate professor of biomedical informatics and of data science.

Doctors and scientists also struggle with prognosis, as it can be difficult to parse which cancerous cells are driving each patient’s glioblastoma.

Continue reading “Scientists employ AI to predict brain cancer outcomes” »

Now maybe we can snack happily! I think this applies to regular food too? I can eat all the Chinese and Mexican and Italian food I want? Plus for people with genetic risks can’t this not help? I hope so.

Mice fed a high-sugar, high-fat diet for most of their lives managed to escape weight gain and protect their livers when they were treated with an experimental new drug.

The small-molecule drug was developed by a team led by The University of Texas Health Science Center at San Antonio (UT Health San Antonio). K nown by its chemical acronym CPACC, it works by limiting the entry of magnesium into the mitochondria, the parts of the cell in charge of generating energy and burning calories.

Continue reading “Scientists Develop Drug That Prevents Weight Gain in Junk-Food-Eating Mice” »

Likewise, this dataset had 4,510 cases, 212,242 controls, with 16,380,464 SNPs for psoriasis, and 2,802 cases, 212,242 controls, with 16,380,459 SNPs for psoriasis vulgaris.

The team analyzed the aggregated statistical data using an MR approach to explore the potential causal relationship between the gut microbiome and psoriasis. SNPs with a threshold P-value of 1 × 10⁻⁵ worked as genetic instrumental variables in these MR analyses.