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Point of view: Challenges in implementation of new immunotherapies for Alzheimer's disease.
J Prev Alzheimers Dis
January 2025
Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, BioClinicum, 171 64 Solna, Sweden; Theme Inflammation and Aging, Karolinska University Hospital, 141 86 Stockholm, Sweden.
The advancement of disease-modifying treatments (DMTs) for Alzheimer's disease (AD), along with the approval of three amyloid-targeting therapies in the US and several other countries, represents a significant development in the treatment landscape, offering new hope for addressing this once untreatable chronic progressive disease. However, significant challenges persist that could impede the successful integration of this class of drugs into clinical practice. These challenges include determining patient eligibility, appropriate use of diagnostic tools and genetic testing in patient care pathways, effective detection and monitoring of side effects, and improving the healthcare system's readiness by engaging both primary care and dementia specialists.
View Article and Find Full Text PDFPitfalls and perils from FDA-approved germ-line cancer predisposition tests.
Oncotarget
December 2024
The FDA approval on September 29, 2023, for "class III " blood tests to assess hereditary cancer risk make widely available tests that may be obtained through a Direct to Consumer (DTC) path. There is concern that germ-line predisposition tests may not be reimbursed by insurance adding financial burdens to individuals and families. It is generally agreed in the fields of oncology and genetics that germ-line testing for disease susceptibility including cancer is best performed under care of a healthcare provider with genetic counseling.
View Article and Find Full Text PDFAltered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFPrognostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in retinoblastoma.
JCI Insight
December 2024
Department of Ophthalmology and Roger and Karalis Johnson Retina Center, University of Washington, Seattle, United States of America.
Background: Current clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease and the inability to assign this in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.
Methods: To directly assign parent-of-origin in retinoblastoma patients, genomic DNA was extracted from blood samples for sequencing using a programmable, targeted single-molecule long-read DNA genomic and epigenomic approach.
Sex-related differences in response to lomitapide in HoFH: A subanalysis of the Pan-European Lomitapide retrospective observational study.
Atherosclerosis
December 2024
Department of Translational and Precision Medicine, Sapienza University of Rome, Viale Dell'Università 37, Rome, 00185, Italy.
Article Synopsis
- Homozygous familial hypercholesterolemia (HoFH) is a genetic disorder that leads to very high LDL cholesterol levels and increased risk for heart disease, and lomitapide shows potential to lower LDL cholesterol levels.
- A study analyzed the effects of lomitapide on 38 women and 37 men with HoFH, finding similar LDL reduction rates for both sexes, although women showed a greater reduction at six months.
- Women experienced more gastrointestinal side effects from the treatment, but overall, lomitapide was similarly effective for both genders in reducing cholesterol without significant differences in cardiovascular event outcomes.
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