Bringing awareness on a syndrome that makes it hard for families and patients trying to have genetic testing on cancers in their families. I first came across this syndrome with a researcher at Swedish Medical Center’s Cancer Research Group. Some families can have so many various cancers that genetic testing is extremely costly to patients and may not be able to pinpoint the mutation due to this syndrome.

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Yet misdiagnosis remains an ongoing challenge, and a recent international study involving more than 100 countries and nearly 2000 patients revealed the average case takes between 5 and 9 years to properly diagnose after the first symptoms appear, and the average patient may see five or six doctors, noted Richard R.P. Warner, MD, in an interview with Oncology Nursing News.

“You can’t detect it, if you don’t suspect it,” said Warner, who directs the Center for Carcinoid and Neuroendocrine Tumors at Mount Sinai Hospital. Most doctors will only see one or two cases in their lifetime, and symptoms of NETs, like diarrhea and recurrent episodes of flushing, are associated with other, more commonly seen conditions.

He added that to complicate matters even further, “no two samples of tumors are exactly identical.” The treatment has to be customized for each case and depends on where the tumor is located and how much it has spread.

Researchers hope the stammering rodents help find a cure for the speech problem.

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Scientists announced they have found 13 “resilient” people who have genetic mutations that should have doomed them to serious childhood disease.

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The CRISPR/Cas9 gene-editing platform may need a little bit more tweaking before it can be used as an effective antiviral, reports a study published April 7 in Cell Reports. Researchers who used CRISPR/Cas9 to mutate HIV-1 within cellular DNA found that while single mutations can inhibit viral replication, some also led to unexpected resistance. The researchers believe targeting multiple viral DNA regions may be necessary for the potential antiviral aspect of CRISPR/Cas9 to be effective.

Upon entry into a cell, HIV’s RNA genome is converted into DNA and becomes entwined with the cellular DNA. From here, CRISPR/Cas9 can be programmed to target a DNA sequence and cleave viral DNA. The problem is that HIV is notoriously good at surviving and thriving with new mutations, so while many viruses are killed by the targeted approach, those that escape the CRISPR/Cas9 treatment become more difficult to target.

“When we sequence the viral RNA of escaped HIV, the surprise is that the majority of the mutations that the virus has are nicely aligned at the site where Cas9 cleaves the DNA, which immediately indicates that these mutations, instead of resulting from the errors of viral reverse transcriptase, are rather introduced by the cellular non-homologous end joining machinery when repairing the broken DNA,” says senior study author Chen Liang, Senior Investigator at the Lady Davis Institute at the Jewish General Hospital and the Associate Professor of Medicine at the McGill University AIDS Centre.

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