This week’s Research Roundup highlights developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular dysplasia characterized by the presence of arteriovenous malformations of the skin, mucosa, and viscera. Linnea Baudhuin, Ph.D., FACMG, Co-Director of the Personalized Genomics Laboratory at Mayo Clinic, provides an overview of the new familial HHT gene panel available through Mayo Medical Laboratories. She discusses which types of patients should be tested, how this approach improves upon previous methods, and what clinical action can be taken from the results of this test.

Genetic testing is like security-camera video footage of a break-in, providing essential clues to identify a culprit. In certain cancers, the “culprit” might be a rearrangement in a person’s DNA, which genomic testing can capture. Mayo Clinic has developed a novel group of clinical tests that zoom in on a person’s genome to characterize chromosomal rearrangements.

Pharmacogenomic testing is still limited, despite ample research, the existence of guidelines, and the emerging evidence it can help patients. Ann Moyer, M.D., Ph.D., Co-Director of the Personalized Genomics Laboratory at Mayo Clinic in Rochester, Minnesota, makes a case for pharmacogenomics.

Hormone therapy is often used to prevent night sweats. But finding the right dose of estrogen can be tricky, with some women needing more estrogen than others to get relief. A new Mayo Clinic study published in Menopause: The Journal of the North American Menopause Society found that genetic differences appear to play a role in the effectiveness of hormonal treatment for menopausal women.

PACE / State of CA / State of FL
This month’s “Virtual Lecture” will discuss pharmacogenomics testing that is being performed at the Personalized Genomics Laboratory at Mayo Clinic.

Mayo Medical Laboratories is the first clinical laboratory to offer postmortem genetic tests for inheritable cardiovascular disorders on formalin-fixed paraffin-embedded (FFPE) tissue as a preferred sample type.

This week’s Research Roundup highlights patterns of homozygosity in patients with uniparental disomy with detection rate and suggested reporting thresholds for SNP microarrays.

Multiple myeloma is the second most common blood cancer, but most people haven’t heard of it until they or someone they know is diagnosed with the disease. March is Myeloma Action Month—a time to focus attention on the fight against multiple myeloma.

Linnea Baudhuin, Ph.D., Co-Director of the Personalized Genomics Laboratory at Mayo Clinic in Rochester, Minnesota, […]

This week’s Research Roundup highlights multifaceted Fanconi anemia signaling.

Researchers at Mayo Clinic have discovered a second-tier test for Pompe disease that has been shown to improve the specificity of newborn screening for the disorder, which would lower the rate of false-positive results.

Hutton Kearney, Ph.D., Consultant of Hereditary Genomics Laboratory in the Division of Laboratory Genetics and Genomics at Mayo Clinic, participated in an interview with Frontline Genomics Magazine to discuss cytogenetics.