Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.
In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.
Researchers carried out the first extensive investigation of the formation of the blood and immune systems in the prenatal bone marrow.
New research published today in JAMA Oncology reports how two separate DNA changes appear to predict aggressive childhood leukemias when they occur in combination.
Levels of a protein called neurofilament light chain (NfL) in the blood can identify those who might have neurodegenerative diseases such as Down's syndrome dementia, motor neuron disease (ALS) and frontotemporal dementia, when clinical symptoms are not definitive.
A study reveals the genetic factors that may expose or protect people with Down syndrome from SARS-CoV-2 infection, as well as the prognosis of COVID-19.
AZoLifeSciences speaks to Dr. Terry Hasssold about his latest research into oocytes and how imperfect egg cells are more common than scientists initially thought.
The exchange of DNA between chromosomes during the early formation of sperm and egg cells normally is limited to assure fertility.
Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.
Researchers at IIT-Istituto Italiano di Tecnologia (Italian Institute of Technology) discovered a novel chemical compound, which has the potential to became a new drug for the treatment of core symptoms of brain disorders like Down syndrome and autism.
Researchers at the University of Maryland School of Medicine have identified how certain gene mutations cause amyotrophic lateral sclerosis, also known as Lou Gehrig's disease.