1 gene leads to diagnosis of mystery condition; pharmacist and brother convicted of $15 million health care fraud; promising new breast cancer model – Morning Medical Update

Author(s):

Austin Littrell

Key Takeaways

Identification of the FLVCR1 gene provided a genetic diagnosis for 30 patients with previously unexplained conditions, emphasizing the role of genetic research in complex diagnoses.
Two Michigan brothers were convicted of a $15 million healthcare fraud scheme, involving false billing to Medicare, Medicaid, and private insurers, highlighting the need for stringent oversight.
A new breast cancer model from Michigan State University links the E2F5 gene to metastasis, offering insights into cancer progression and potential therapeutic targets.

The top news stories in medicine today.

Single gene leads to diagnosis of previously unexplained condition in 30 patients

Collaborating researchers from Baylor College of Medicine, The National University of Singapore and other worldwide institutions published a study in Genetics in Medicine, providing a genetic diagnosis for 30 patients whose condition had been undiagnosed for years.

“The story of our findings began with one patient I saw in the clinic, presenting an uncommon combination of problems,” Daniel Calame, MD, PhD, instructor of pediatric neurology and developmental neurosciences at Baylor, said in a university release. “The patient had severe developmental conditions, epilepsy and complete insensitivity to pain, which was very atypical. The condition had remained undiagnosed despite numerous tests conducted by geneticists and neurologists.” The diagnosis came down to a single gene: FLVCR1.

Pharmacist and brother convicted of $15 million Medicare, Medicaid and private insurer fraud

Raad Kouza, a pharmacist in Wayne County, Michigan, and his brother Ramis Kouza, of Oakland County, Michigan, were convicted for conspiracy to commit health care fraud and wire fraud. Raad Kouza was also convicted on one count of health care fraud. The brothers billed Medicare, Medicaid and Blue Cross Blue Shield of Michigan for prescription medications that they did not dispense at pharmacies they owned or operated in Michigan. Collectively they caused over $15 million in losses to the organizations.

The brothers face maximum penalties of 20 years in prison on the conspiracy count, and Raad Kouza faces a maximum penalty of 10 years in prison on the health care fraud count.

Promising new genetic breast cancer model

A Michigan State University (MSU) researcher recently developed a new model for the study of breast cancer, which could help scientists better understand why and where cancer metastasizes. Eran Andrechek, a professor in the MSU Department of Physiology, published his research in the cancer journal, Oncogene. Andrechek determined that the loss of the E2F5 gene results in altered regulation of Cyclin D1, which is a protein that is linked to metastatic breast tumors following long latency. An improved understanding of how genes impact cancers can support further research into where cancers metastasize and where they’re likely to spread.