A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 patients have had their entire genome sequenced, with 23 per cent receiving a genetic diagnosis, according to a study published in Genome Medicine. The … Read more
Introduction: Clostridium botulinum (C. botulinum) produces botulinum neurotoxins (BoNTs), the causative agents of botulism, a severe neuroparalytic disease prevalent in northwest China. Recent foodborne botulism outbreaks linked to commercially produced, vacuum-packaged, ready-to-eat foods were traced to raw meat contaminated with C. botulinum spores originating from soil, highlighting an emerging public health concern … Read more
A “revolutionary” study to detect rare genetic illnesses in newborn babies has signed up its 1,000th participant. The Generation Study, led by Genomics England in partnership with the NHS, is aiming to screen 100,000 babies using technology called whole genome sequencing, which detects more than 200 conditions – all of which can be treated. Sam … Read more
Researchers have uncovered that some childhood cancers have a substantially higher number of DNA changes than previously thought, changing the way we view children’s tumors and possibly opening up new or repurposed treatment options. Concentrating on a type of childhood kidney cancer, known as Wilms tumor, an international team genetically sequenced multiple tumors at a … Read more
To investigate the clonal diversity of EIA-MRSA, a ML tree was constructed from 105 isolates in this study. Eleven clonal complexes (CCs) were identified, with the majority of isolates found in CC59 (35/105), CC5 (21/105), CC398 (16/105), CC1 (9/105), and CC22 (8/105) (Figure S1). Quinolone resistance promotes community spread of EIA-MRSA Acquisition of increased AMR … Read more
A new study has unveiled when chronic myeloid leukemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows. Researchers reveal explosive growth rates of cancerous cells years before diagnosis and variation in these rates of growth between patients. Such rapid growth rates had previously not … Read more
A new study has unveiled when chronic myeloid leukemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows. Researchers reveal explosive growth rates of cancerous cells years before diagnosis and variation in these rates of growth between patients. Such rapid growth rates had previously not … Read more
Investigators from Mass General Brigham have conducted a multi-ancestry, whole genome sequencing association study of Alzheimer’s disease and found evidence for 16 new susceptibility genes, expanding the study of Alzheimer’s disease in underrepresented groups. Their results are published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association. For the study, co-led by Julian Daniel … Read more
Immune Snapshot Could Revolutionize Cancer Care A groundbreaking study from UCL and the Francis Crick Institute has revealed a powerful connection between the immune system and cancer survival. Researchers have developed a novel tool called ImmuneLENS, which analyzes the proportion of T cells and B cells in a patient’s blood directly from their whole-genome sequencing … Read more
The immune systems of cancer patients are highly disrupted, with those who have a higher number of immune cells in their blood having a better survival rate, finds a new study that uses a pioneering technique developed by researchers at UCL and the Francis Crick Institute. The tool, described in Nature Genetics, is called Immune … Read more