Genetics: 2q21.1 variations link autism, attention deficit
Copy cat: Repeated stretches of DNA on either side of the 2q21.1 genomic region (top and bottom, here) have made it difficult to spot the region in genetic screens. Researchers have found deletions and duplications of a small piece of chromosome 2 in peo
Genomics, Intellectual Disability, and Autism
During the past decade, advances in genetic research have enabled genomewide discovery of chromosomal copy-number changes and single-nucleotide changes in patients with intellectual disability and autism as well as in those with other disorders. These technological advances — which include array comparative genomic hybridization (CGH), single-nucleotide-polymorphism (SNP) genotyping arrays, and massively parallel sequencing — have transformed the approach to the identification of etiologic genes and genomic rearrangements in the research laboratory and are now being applied in the clinical diagnostic arena.
Brian Skotko
A Board-certified medical geneticist at Children's Hospital Boston, Massachusetts General Hospital, Brigham & Women's Hospital, and Dana Farber Cancer Institute, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. He is one of the specialists in theDown Syndrome Program at Children's Hospital Boston. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver
Genetics: Different mutations lead to autism in same family
Gene splicing: A deletion within an autism-associated chromosomal region may predispose the DNA to recombination, resulting in a neighboring deletion. Twin brothers who have autism carry a non-inherited duplication that overlaps with 16p11.2, a chromosom
How Does Autism Rewire The Brain?
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of a disorder that affects fewer than 20 people worldwide. Using cutting-edge technology, researchers funded by the National Institutes of Health ha
Genetics Home Reference: Fanconi anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce n
Genetics 101 Part 4: What is phenotype?
Discover how your observable traits, or phenotypes, are the result of interactions between your genes and environment.
Genetics 101 Part 1: What are genes?
Find out about the basics of cells, chromosomes, and the genes contained in your DNA.
