The announcement of the failure of two Huntington’s disease trials run by Roche and Wave Life Sciences earlier this year was a great disappointment to clinicians and patients alike, but what do the results mean for the field? Researchers have been working to develop more effective treatments or even cures…

Scientists from the University of Pennsylvania have discovered how mutations in the LMNA gene cause a congenital form of dilated cardiomyopathy, a serious heart condition that can be fatal. The researchers found that LMNA gene mutations have a particularly adverse effect on cardiac muscle cells compared to other cell types,…

Antiviral treatments can interfere with multiple, different, targets that are important for the virus to set up an infection and replicate. Since the start of the pandemic, many researchers have been searching for those targets for the SARS-CoV-2 virus. Now, to identify new potential therapeutic targets for SARS-CoV-2, a team…

Molecular methods of diagnosing diseases promise fast and accurate approaches for an array of conditions. While many molecular diagnostics look for mutations in DNA, an increasing number analyze a sample’s RNA,  and those are explored here. Manufacturers offer a variety of RNA-based diagnostics, and academic scientists continue to explore new…

In genome sequencing, “complete” never really means 100% complete. The genomes that are called complete usually omit repetitive DNA segments, which are usually scanned in short, hard-to-piece-together segments. Not content with with this standard of completions, a large group of genomic researchers recently decided to try something different. The researchers,…

Researchers at Cedars-Sinai Medical Center are planning a randomized, controlled trial to evaluate a form of allogeneic cell therapy for COVID-19, after four out of six patients critically ill with the disease recovered well enough following infusions of the cells to be discharged from the hospital. The remaining two patients…

Personalized medicine has taken a big step forward with the launch of non-profit n-Lorem Foundation, which will create patient-tailored antisense oligonucleotide (ASO) therapeutics for people with rare diseases at no cost to the patients.  This comes at the same time as custom gene therapies for rare disease patients are being…

A new survey conducted by Zogby Research for the American Society of Human Genetics shows that 84% of Americans agree that more human genetics research is needed and 74% support increased federal funding for human genetics research. The survey also confirms the importance placed on confidentiality and security of research…

Clinical genetic testing company GeneDx has announced it will adopt Bionano Genomics’ genome imaging system Saphyr to develop new assays that will eventually be used at GeneDx’s clinical laboratory in Gaithersburg, MD. “Saphyr addresses the need for more and better patient testing for diagnosis and research in drug development. GeneDx’s…

Bionano Genomics announced at the American Society of Human Genetics (ASHG) annual meeting in Houston that PerkinElmer Genomics and the University of Iowa have both adopted use of Bionano’s Saphyr whole-genome imaging platform in their assay development labs, with PerkinElmer being the first to develop and validate an assay based…

Among the challenges long faced by diagnostics developers striving to broaden the use of their tests is finding enough patients to generate enough samples, especially for rare or inherited disorders, as well as finding ways of getting paid for that testing. Invitae launched its own solution to those challenges in…

A new partnership was just announced between YourDNA and DNA ID to connect rare disease patients to genetic researchers in a safe, secure, and more efficient way. The two companies aim to help patients with rare genetic diseases form communities where they can find support and the chance to further…

Invitae said it is offering for free its Detect genetic testing programs for four conditions: Muscular dystrophy, hereditary prostate cancer, familial cardiomyopathy and arrhythmia, and lysosomal storage diseases. The free testing is being offered for conditions where testing is underused, with the goal of leading to earlier diagnosis and treatment,…

CRISPR-Cas9 is best known for its powerful ability to make double-stranded breaks in DNA, allowing scientists to delete and edit genes with relative ease. But switch out Cas9 for another protein, and CRISPR becomes a programmable tool for detecting the presence of certain nucleic acid sequences. This feature has startups…

In advance of three scheduled hearings this week and next in front of the intellectual property subcommittee of the Senate Judiciary Committee, an American Civil Liberties Union (ACLU) coalition of more than 100 organizations from medical, scientific, patient advocacy, and women’s health groups today sent a letter to Capitol Hill…