

PBS - Williams Syndrome Broadcast 2001 with Dr. Genetics and Human Brainsįrom: Thompson et al 2005 JNS Lecture XV. Genetics and Human Brainsįrom: Bellugi et al 2001 TINS Lecture XV. Smith-Lemli-Opitz syndrome Lecture XV.Trisomy 21 or Down syndrome (added 21).Problems (environmental) during childhood.Problems (environmental) during pregnancy.There are various causes of intellectualdisabilities, most commonly: IDD (intellectual and developmental disabilities) Lecture XV.

_ †(pdfs on course websites: & ) Lecture XV. (Marfan) †Walsh CA 2001 Neuroscience in the post-genome era: an overview TINS 24:363-364. †McKusick VA 2007 Mendelian Inheritance in man and its online version, OMIM. †McKusick VA 2001 The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century. Baltimore: Johns Hopkins University Press, 435 p. References Background: Altman L 2008 Viktor McKusick, 86, dies medical genetics pioneer. Baltimore: The Johns Hopkins University Press, 3972 pp. Genetics and Human BrainsĪccess to “Mandelian Inheritance in Man” McKusick VA, with Antonarakis SE, Francomano CA, Hurko O, Scott AF, Smith M, Valle D, & others 1998 Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Genetics and Human Brainsįrom: McKusick 2001 JAMA Lecture XV. From: McKusick 2007 Am J Hum Genet Lecture XV. Of these, an increasing number of conditions has been identified as having some component related to the nervous system. Since then the number has grown approximately 15 fold. Victor McKusick organized a catalog of human inherited conditions, first published in 1966. Marfan SyndromeMarfan 1896Tall, indented chest (pectus excavatum) long digits, cardiovascular problemsFibrilin – connective tissueAutosomal dominantZitelli BJ 2005 Picture of the month. (cerebral cortex = gold thalamus = blue/purple midbrain = orange pons = purple, cerebellum = blue medulla = red/orange spinal cord = green) Lecture XV. These brain regions are discernable in in all vertebrates and in early embryos. 9 The different regions of the brain from the lateral (side) and median section (middle) human brain. 20 Left Lateral (side) view of the human Brain Lecture XV. Genetics and Human BrainsĮlementsNeurons (=nerve cells) ≈ 100 BillionGlia (= glue “supporting” cells) ≈ 1 TrillionSynapses (=clasp) 1/3,000,000th of all stars, planets and big rocks in the universeGenes 50% of ≈ 25,000 genes in genome are expressed only in “Brain” Lecture XV. MRDD (mental retardation and developmental disabilities).

Genetics and Human Brains: Clues from Abnormal Function and Structure Bio 3411 Wednesday OctoLecture XV.
