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.
Scientists at the University of Colorado Anschutz Medical Campus have made a `paradigm shifting’ discovery on the mechanisms required for learning and memory that could lead to new therapies for Alzheimer’s disease and potentially Down syndrome.
According to new research published in Nature Biotechnology, artificial intelligence can predict on- and off-target behavior of CRISPR tools that target RNA rather than DNA.
Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a mouse model of Down Syndrome.
An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.
Understanding how cancer develops is critical for designing effective, personalized cancer therapies. Researchers have known for years that cancer begins with mutations in certain types of genes.
Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.
Scientists at the Icahn School of Medicine at Mount Sinai in New York have identified which parts of the immune system go awry and contribute to autoimmune diseases in individuals with Down syndrome.
Cancer is a disease driven by gene mutations. These mutated genes in cancer fall into two major categories: tumor suppressors and oncogenes. Mutations in tumor suppressor genes can allow tumors to grow unchecked – a case of no brakes – while mutations in oncogenes can activate cell proliferation, pushing the gas pedal all the way to the floor.
Gene mutations are the cause of cancer. Tumor suppressors and oncogenes are the two main groups of these altered genes in cancer. Mutations in oncogenes can drive cell proliferation, pushing the gas pedal to the floor, whereas mutations in tumor suppressor genes can cause tumors to grow unchecked—a situation in which there is no control.
According to a recent study by researchers at the University of Colorado Anschutz Medical Campus, the overexpression of a gene linked to cell division and the structure and function of neurons could prevent and protect against cognitive deterioration in both mice and people with Alzheimer’s disease (AD).
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.