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Archive for the ‘genetics’ category: Page 193

Oct 24, 2021

Rise of Robot Radiologists

Posted by in categories: biotech/medical, genetics, information science, life extension, robotics/AI

Circa 2019 😀


Because they can process massive amounts of data, computers can perform analytical tasks that are beyond human capability. Google, for instance, is using its computing power to develop AI algorithms that construct two-dimensional CT images of lungs into a three-dimensional lung and look at the entire structure to determine whether cancer is present. Radiologists, in contrast, have to look at these images individually and attempt to reconstruct them in their heads. Another Google algorithm can do something radiologists cannot do at all: determine patients’ risk of cardiovascular disease by looking at a scan of their retinas, picking up on subtle changes related to blood pressure, cholesterol, smoking history and aging. “There’s potential signal there beyond what was known before,” says Google product manager Daniel Tse.

The Black Box Problem

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Oct 24, 2021

Study Find Links to Genetic Disorders in Walking Patterns

Posted by in categories: genetics, health, neuroscience

Summary: Researchers have linked Fragile X and SHANK3 deletion syndrome, two disorders associated with autism, to specific microscopic walking patterns.

Source: Rutgers.

Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome – both linked to autism and health problems – to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers.

Oct 23, 2021

A rapid, accurate, scalable, and portable testing system for COVID-19 diagnosis

Posted by in categories: biotech/medical, genetics

Here we report a rapid Scalable and Portable Testing (SPOT) system consisting of a rapid, highly sensitive, and accurate assay and a battery-powered portable device for COVID-19 diagnosis. This device consists of 3D printed casing and internal structure with precise temperature control and fluorescence detection, whereas this assay combines RT-LAMP with an Argonaute protein from hyperthermophilic archaeon Pyrococcus furiosus (PfAgo) capable of precise recognition and cleavage of a target DNA at 95 °C as directed by small 5â€Č-phosphorylated single strand DNA (ssDNA) as guide DNA (gDNA)10,11. Due to the multi-turnover activity of PfAgo, its secondary cleavage mechanism can be harnessed for specific, sensitive, and multiplex nucleic acid detection12,13. For COVID-19 samples, although nasopharyngeal swab and nasal swab samples were recommended for detection of SARS-CoV-2, saliva samples are a more attractive alternative due to the ease, safety, and non-invasive nature of its collection14,15, and its relatively high viral load during the first week of infection16. These benefits enable a saliva sample to be an ideal specimen for reliable and rapid self-detection without professional supervision17,18,19. While current CRISPR-based detection systems normally require 50 min for testing, PfAgo can dramatically speed up the detection process by requiring only 3–5 min for cleavage of amplified products, thereby shortening the total turnaround time for testing to less than 30 min. Moreover, successful PfAgo detection requires at least two sequence-specific cleavages, endowing the SPOT system with high specificity and the ability for multiplexing. Finally, to validate the SPOT system, the sensitivity and accuracy of the SPOT system were determined by using 104 clinical saliva samples.

- please note: The SPOT system also may be useful for detecting genetic markers of certain types of cancer in saliva.


There is a clear need for rapid, accurate and scalable Covid-19 diagnostics. Here the authors use PfAgo to detect viral sequences amplified by RT-LAMP in a handheld battery-powered device.

Oct 23, 2021

After decades, room temperature superconductivity achieved

Posted by in categories: biotech/medical, genetics

But the hydrogen-based material requires high pressure.


A kidney grown in a genetically altered pig functions normally, scientists reported. The procedure may open the door to a renewable source of desperately needed organs.

Oct 23, 2021

In a First, Surgeons Attached a Pig Kidney to a Human, and It Worked

Posted by in categories: biotech/medical, genetics

A kidney grown in a genetically altered pig functions normally, scientists reported. The procedure may open the door to a renewable source of desperately needed organs.

Oct 22, 2021

Gene editing can turn storage fat cells into energy-burning fat cells

Posted by in categories: bioengineering, biotech/medical, genetics, health

A team of researchers at UT Southwestern Medical Center’s Touchstone Diabetes Center have successfully used CRISPR gene editing to turn fat cells normally used for storage into energy-burning cells.

“It’s like flipping a switch. We removed the ‘brake’ on the energy burning pathway in by engineering a mutation that disrupts the interaction between a single pair of proteins,” said study leader Rana Gupta, Ph.D., Associate Professor of Internal Medicine. “Our research demonstrates that releasing this brake in fat cells can potentially help make existing much more effective.”

The research at UT Southwestern, ranked as one of the nation’s top 25 hospitals for diabetes and endocrinology care, is published in Genes and Development and supported by the National Institutes of Health.

Oct 20, 2021

Genetically Engineered Pig Kidney Successfully Transplanted Into Human In World First

Posted by in categories: biotech/medical, genetics, health

In a world-first, US surgeons have successfully transferred a kidney taken from a pig into a braindead human patient, in a major step towards using animal organs in human transplantations.

The team at NYU Langone Health performed the operation on a woman who was recently declared braindead, with the permission of her family. The sole object of the study, according to the lead surgeon Dr Robert Montgomery, was “to provide the first evidence that what appears to be promising results from non-human primates will translate into a good outcome in a human.”

One major obstacle in making xenotransplantation possible has been the rejection of organs by hosts. To overcome this, the team used an organ from a pig that had been genetically engineered in order to remove a sugar molecule known to play a significant role in rejection. The surgeons attached the kidney to large blood vessels outside of the recipient and monitored it for two days.

Oct 20, 2021

In a First, Surgeons Attached a Pig Kidney to a Human — and It Worked

Posted by in categories: biotech/medical, genetics

The kidney used in the new procedure was obtained by knocking out a pig gene that encodes a sugar molecule that elicits an aggressive human rejection response. The pig was genetically engineered by Revivicor and approved by the Food and Drug Administration for use as a source for human therapeutics.

Dr. Montgomery and his team also transplanted the pig’s thymus, a gland that is involved in the immune system, in an effort to ward off immune reactions to the kidney.

After attaching the kidney to blood vessels in the upper leg, the surgeons covered it with a protective shield so they could observe it and take tissue samples over the 54-hour study period. Urine and creatinine levels were normal, Dr. Montgomery and his colleagues found, and no signs of rejection were detected during more than two days of observation.

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Oct 20, 2021

Overcoming Chimeric Antigen Receptor (CAR) Modified T-Cell Therapy Limitations in Multiple Myeloma

Posted by in categories: biotech/medical, genetics

Multiple myeloma (MM) remains an incurable disease regardless of recent advances in the field. Therefore, a substantial unmet need exists to treat patients with relapsed/refractory myeloma. The use of novel agents such as daratumumab, elotuzumab, carfilzomib, or pomalidomide, among others, usually cannot completely eradicate myeloma cells. Although these new drugs have had a significant impact on the prognosis of MM patients, the vast majority ultimately become refractory or can no longer be treated due to toxicity of prior treatment, and thus succumb to the disease. Cellular therapies represent a novel approach with a unique mechanism of action against myeloma with the potential to defeat drug resistance and achieve long-term remissions. Genetic modification of cells to express a novel receptor with tumor antigen specificity is currently being explored in myeloma. Chimeric antigen receptor gene-modified T-cells (CAR T-cells) have shown to be the most promising approach so far. CAR T-cells have shown to induce durable complete remissions in other advanced hematologic malignancies like acute lymphocytic leukemia (ALL) and diffuse large B-cell lymphoma (DLBCL). With this background, significant efforts are underway to develop CAR-based therapies for MM. Currently, several antigen targets, including CD138, CD19, immunoglobulin kappa (Ig-Kappa) and B-cell maturation antigen (BCMA), are being used in clinical trials to treat myeloma patients. Some of these trials have shown promising results, especially in terms of response rates. However, the absence of a plateau is observed in most studies which correlates with the absence of durable remissions. Therefore, several potential limitations such as lack of effectiveness, off-tumor toxicities, and antigen loss or interference with soluble proteins could hamper the efficacy of CAR T-cells in myeloma. In this review, we will focus on clinical outcomes reported with CAR T-cells in myeloma, as well as on CAR T-cell limitations and how to overcome them with next generation of CAR T-cells.

Multiple myeloma (MM) is an hematological malignancy characterized by the clonal proliferation of malignant plasma cells. Myeloma develops from a pre-malignant monoclonal proliferation of plasma cells (monoclonal gammopathy of undetermined significance) which progresses to smoldering myeloma and finally to symptomatic disease (1, 2). With an incidence of 5.6 cases per 100.000 people/year in Western countries it accounts for 1% of all cancers and around 10% of hematological malignancies. Diagnosis of MM is based on the presence of clonal plasma cells plus monoclonal protein in serum or urine and clinical manifestations including hypercalcemia, renal impairment, anemia and/or bone lesions (acronym: CRAB) (4, 5).

Oct 20, 2021

Super-Precise CRISPR Gene Editing Tool Is Set to Tackle Tough Genetic Diseases

Posted by in categories: bioengineering, biotech/medical, genetics

Scientists reworked CRISPR prime’s molecular makeup to precisely cut out up to 10,000 DNA letters in one go, and increased the tool’s efficiency eight-fold.