In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, ...
Feb 19, 2024
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A team of investigators from Massachusetts General Hospital (MGH), Brigham and Women's Hospital (BWH), and the Broad Institute of MIT and Harvard have developed a non-invasive genetic test that can screen the blood of pregnant ...
Nov 22, 2023
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Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can ...
Jul 21, 2023
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Defects in a single protein involved in cell death may impair the immune system's ability to combat a herpes viral infection in the central nervous system, scientists have found in new research that examines a pediatric infection ...
A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing ...
Jun 26, 2023
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Epilepsy affects approximately 1-in-26 people and the most common form, known as temporal lobe epilepsy (TLE), often cannot be adequately treated with anti-seizure medications. Patients with this form of epilepsy may require ...
May 1, 2023
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Among individuals who consented to whole-exome sequencing and were identified as carriers of predisposition genes for hereditary breast and ovarian cancer (HBOC) or Lynch syndrome, 39.2% would not have qualified for genetic ...
Apr 18, 2023
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A paper published in the American Journal of Human Genetics proposes ATRIP gene variants as a breast cancer susceptibility gene candidate based on a study of women without any of the known breast cancer-associated gene variants.
A large research project, led by scientists at Sylvester Comprehensive Cancer Center in the University of Miami Miller School of Medicine, Memorial Sloan Kettering Cancer Center, and Weill Cornell Medical College, has found ...
Feb 21, 2023
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Every year, up to 1% of patients with chronic lymphocytic leukemia (CLL), a slow-growing blood cancer, have their disease transform into a far more aggressive cancer, a form of lymphoma known as Richter's syndrome. For the ...
Dec 12, 2022
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