DNAConsulta.com

13/12/2025

https://www.bbc.com/news/articles/cj38ymeyg4mo

Seven out of 11 patients with incurable cancer who had the treatment appear to be cancer-free.

26/11/2025

Prof Dr Alex Felice
Obituary by Prof Christian Scerri
https://www.um.edu.mt/newspoint/people/2025/obituaryprofalexefelice.html?utm_source=update&utm_medium=email&utm_campaign=update&utm_content=article&fbclid=IwY2xjawOUCf1leHRuA2FlbQIxMQBzcnRjBmFwcF9pZBAyMjIwMzkxNzg4MjAwODkyAAEer9VE5LNwaIiVdkjhtD-f06k5NxQLHi3M_GRupK75lvB7jP8k-dPePTyH4YA_aem_l_8EMBHfqbcmC3RK39M2Bg

On behalf of his former students and colleagues

24/11/2025

GENE THERAPY
A Treatment where previously there was none: Hunter Syndrome

Oliver has an inherited condition called Hunter syndrome, which causes progressive damage to the body and brain.

08/11/2025

RIP PROF JAMES WATSON

https://edition.cnn.com/2025/11/07/us/james-watson-death?Date=20251107&Profile=CNN,CNN+International&utm_content=1762547806&utm_medium=social&utm_source=facebook&fbclid=IwY2xjawN8CX5leHRuA2FlbQIxMABicmlkETBhZzA4OTgxSDRDSVJDMzlTc3J0YwZhcHBfaWQQMjIyMDM5MTc4ODIwMDg5MgABHoEcBFId6BOwVGeD6PFSuiW4szd_I5u_a4qBFG95kvCnpcXKwFUE7ADvky-Q_aem_fnGohY5qG8AAn2bsQqS0ug

James Watson, a renowned molecular biologist and one of the Nobel Prize winners for discovering the structure of DNA, died Thursday after a brief illness, according to a statement from his former employer.

01/11/2025

THE CELL PHOTOGRAPHED LIKE NEVER BEFORE

For the first time in history, scientists have created a complete, high-resolution 3D image of a single human cell down to the tiniest molecular details. Using a powerful mix of X-ray imaging, fluorescence microscopy, and cryo-electron tomography, researchers captured the hidden architecture of life with a level of clarity once thought impossible. Every structure, from the cell membrane to the nucleus, now appears like a living city of motion and precision.

The image reveals organelles like mitochondria, ribosomes, and protein networks in stunning resolution, showing how the cell’s machinery works in real time to sustain life. By flash-freezing cells at ultra-low temperatures, scientists preserved their natural state and scanned them layer by layer, reconstructing a breathtaking 3D map that shows every fold, fiber, and connection inside. It’s a perfect blend of art, technology, and biology coming together to show what life looks like from the inside out.

This breakthrough doesn’t just satisfy curiosity it transforms medicine. With such precise imaging, researchers can now study how diseases alter cells and how drugs interact at the molecular level. From cancer to aging, this new cellular map opens the door to discoveries that could redefine how we heal the human body one atom at a time.

Sources: National Institutes of Health, Nature, Scientific American, European Molecular Biology Laboratory, National Geographic

24/09/2025

TREATMENT FOR HUNTINGTON'S DISEASE

One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.

17/07/2025

BABIES FROM 3 PEOPLE TO PREVENT MITOCHONDRIAL DISEASE

The method was pioneered by UK scientists to overcome devastating, often fatal inherited diseases.

13/07/2025

Scientists just took a big step toward treating Down syndrome

In a major advance for gene editing, scientists in Japan have used CRISPR-Cas9 to remove the extra copy of chromosome 21 in lab-grown cells from individuals with Down syndrome. This condition, known as trisomy 21, results from having three copies of the chromosome instead of two – affecting about 1 in 700 live births.

The technique, called trisomic rescue, works by using CRISPR to target and cut the extra chromosome multiple times. By suppressing the cells’ natural DNA repair processes, researchers increased the chance that the damaged chromosome would be completely removed – rather than repaired. Remarkably, the edited cells retained one copy of chromosome 21 from each parent, avoiding harmful duplication.

The results? The rescued cells showed normalized gene expression, improved growth, and reduced cellular stress – key indicators that cellular function had been restored. Even more impressively, the method worked in both pluripotent stem cells and fibroblasts (skin cells), showing promise for broad application.

Though this is still early-stage research and not ready for clinical use – due to risks of unintended changes to remaining chromosomes – the study proves it’s possible to delete an entire human chromosome with precision.

It’s a foundational step toward treating not only Down syndrome, but potentially other chromosomal disorders like trisomy 13 and trisomy 18.

Learn more: https://academic.oup.com/pnasnexus/article/4/2/pgaf022/8016019?login=false&fbclid=IwY2xjawLPtJ9leHRuA2FlbQIxMAABHkQGzBRcOmtTpJH1hWbox-PJsTtIzQlDRsGDYr5eOVHZ0a5I8PuGvyjXW7zD_aem_TzOyNigeeCMTlOlb1xdinA

12/04/2025

Have you heard of Spinal Muscular Atrophy (SMA)?
SMA is a rare genetic disorder that weakens muscles and affects mobility, strength, and even life expectancy. There are five different types of SMA, and symptoms can vary widely—from mild challenges to more serious impairments.

This graphic outlines the key signs to help raise awareness and show support for those living with SMA.

👉 Discover more about SMA and how our genetic testing services can help: https://medicover-genetics.com/our-genetic-tests/rare-disease-panels/muscle-disorders/