NOAH Health Topics Index By Alphabetical Search Abstinence Accident Prevention Achalasia Achilles Tendonitis achromatopsia AcneAcoustic Cancer Pain Cancer - Prevention Cancer genetics Cancer Fatigue http://www.noah-health.org/english/toclist.html
Extractions: Subject Search in Alphabetical Order A B C D ... Z NOAH is an information guide only and cannot answer personal health-related or research questions. NOAH's information has been culled from a variety of consumer health resources; it is offered to you with the understanding that it not be interpreted as medical or professional advice. All medical information needs to be carefully reviewed with your health care provider.
Genetics- PFLC Consumer Websites , NIH Office of Rare Diseases. , National Organization of Rare Disorders(NORD). -, achromatopsia Network. -, Alpha1 Antitripsin Deficiency Assoc. http://www.mgh.harvard.edu/pflc/c_genetics.asp
Extractions: 70 Years Ago in Science News Week of July 22, 2000; Vol. 158, No. 4 Studies of the people on the Pacific island of Pingelap have revealed the mutation for the color blindness achromatopsia, perhaps paving the way for genetic screening. References: Sundin, O.H., et al . 2000. Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genetics 25(July):289. Further Readings: Hussels, I.E., and N.E. Morton. 1972. Pingelap and Mokil atolls; Achromatopsia. American Journal of Human Genetics Kohl, S., et al . 1998. Total colourblindness is caused by mutations in the gene encoding the a -subunit of the cone photoreceptor cGMP-gated cation channel. Nature Genetics Sacks, O. 1997. The Island of the Colorblind . New York: A.A. Knopf. Sheffield, V.C. 2000. The vision of Thyphoon Lengkieki. Nature Medicine 6(July):746.
B PARENTS EXCHANGE Genetics /b Intro to Genetic Testing The achromatopsia Network What is Albinism? genetics TreacherCollins Syndrome Trisomy Organization Turner's Syndrome Wilson's Disease http://members.tripod.com/~pex/genetics.html
Genetics - Immanuel College Library Resource Centre disorders and diseases General Resources Genetic diseases achromatopsia Cancer geneticsAlbinism Site HHMI's Blazing a Genetic Trail Birth defects and genetics. http://www.schools.ash.org.au/immanuel/htm/genetics.htm
Genetics - Immanuel College Library Resource Centre and diseases General Resources Genetic diseases achromatopsia Cancer geneticsAlbinism on Mutant Genes and Hereditary Diseases Birth defects and genetics. http://www.schools.ash.org.au/immanuel/htm/htm/genetics.htm
Bio 102: Human Genetics Course Syllabus-Fall 2001 al. (1999) Homozygosity mapping of the achromatopsia locus . Am.J. Hum. Genet. begins. Nature genetics 31 235. Cases, O. et al. http://ase.tufts.edu/biology/courses/bio102/syllabus102.html
Extractions: In addition to readings in the book listed above, there will be many readings of original papers and review articles that are on reserve at Tisch Library. At first, you may find it difficult to read an original paper, but the ability develops with practice and it is one of the most important things to be learned in this course. When reading a research paper, read each word. Look at each table and figure and ask yourself: Why did they do this, how did they get these results, and what do the results tell the reader?
Journals Ophthalmic genetics. Louise Eksandh, Susanne Kohl and Bernd Wissinger Clinicalfeatures of achromatopsia in Swedish patients with defined genotypes. http://www.szp.swets.nl/szp/journals/og232.htm
Colour Vision Defects Designed to inform people about colour blindness, and is focused on how a person with colour blindness Category Health Conditions and Diseases Color Blindness genetics of colour blindness Physiological factors that affect colour vision Moreon colour vision impairments and careers Do you see what I see? achromatopsia http://www.geocities.com/HotSprings/8018/
Training Program Guide - 70: BOSTON UNIVERSITY SCHOOL OF MEDICINE Waardenburg syndrome, nonsyndromic deafness, achromatopsia, hereditary osteoarthritis,cystic fibrosis variants, autism, cancer genetics, immunogenetics and http://www.ashg.org/genetics/ashg/pubs/tpguide/tpgg70.htm
Extractions: BOSTON UNIVERSITY SCHOOL OF MEDICINE Center for Human Genetics Degree granted: Ph.D. in Human Genetics Training available: Doctoral, M.D. postdoctoral, Ph.D. postdoctoral Current enrollment: 1 doctoral, 1 M.D. postdoctoral, 3 Ph.D. postdoctoral Number of graduates in last 2 years: 1 M.D. postdoctoral, 3 Ph.D. postdoctoral Faculty status: 2 M.S., 7 Ph.D., 2 M.D. Areas of concentration: Clinical genetics, cytogenetics, dysmorphology, genetic counseling, molecular genetics, prenatal diagnosis, teratology Clinical training fellowships: Clinical genetics, clinical molecular genetics, clinical cytogenetics ABMG accreditation: Clinical cytogenetics, clinical molecular genetics ACGME accreditation: Clinical genetics Financial support: NIH Funds
Wilmer History Timeline islanders and the discovery of the achromatopsia gene by Olof H. Sundin, Ph.D., butalso groundbreaking work in the new fields of molecular genetics and biology http://www.wilmer.jhu.edu/history/genetics.html
Extractions: When Irene Maumenee, M.D., the Ort Family Professor of Ophthalmology, founded the first Center for Hereditary Eye Diseases at Wilmer, she helped establish an area of ophthalmic research which today includes not only her classic studies of achromatopsia (lack of color vision) among Micronesian islanders and the discovery of the achromatopsia gene by Olof H. Sundin, Ph.D., but also groundbreaking work in the new fields of molecular genetics and biology, pursued in several laboratories throughout the Institute. The goal of the molecular researchers is to develop new tools to diagnose, prevent, and even cure major blinding diseases such as age-related macular degeneration and diabetic retinopathy For example, the laboratory of Peter A. Campochiaro, M.D., the George S. and Dolores Dora Eccles Professor of Ophthalmology, is investigating, among many other topics, the role of vascular endothelial growth factor in macular degeneration and diabetic retinopathy, and the possibility of stopping abnormal blood vessel growth using an oral medication. Dr. Campochiaro and Betsy Campochiaro, R.N., his wife, together with Donald Zack, M.D., Ph.D., have launched the Wilmer Genetic Study of Macular Degeneration, involving DNA analysis of thousands of people over several years. They have recently discovered genetic mutations involved in the disease.
The Johns Hopkins Center For Hereditary Eye Diseases for the genes causing Lebers congenital amaurosis, achromatopsia, and nystagmus. IreneH. Maumenee, MD developed the subspecialty of ophthalmic genetics. http://www.wilmer.jhu.edu/research/hered.htm
Extractions: An International Referral Center for Genetic Eye Diseases and Ocular Diseases of Childhood Many eye diseases have a genetic component; similarly, many genetic diseases and birth defects have significant ocular pathology. Irene H. Maumenee, M.D The Laboratory of the Johns Hopkins Center for Hereditary Eye Diseases has developed a DNA registry and receives specimens from all over the world. Sophisticated tests performed in the laboratory include those for diseases such as oculocutaneous albinism, retinitis pigmentosa and other hereditary retinal dystrophies, retinoblastoma, colobomatous malformations, anterior segment malformations, storage diseases, familial retinal detachments (including Norrie disease), congenital cataracts, dislocated lenses, and congenital glaucoma. The Center's laboratory will soon offer clinical DNA diagnosis of some genetic eye diseases, including affection, carrier status and prenatal diagnosis. More than 55 fellows have been trained in the Johns Hopkins Center for Hereditary Eye Diseases; many have established similar centers in the USA and abroad.
Pingelap: Island Of The Colorblind at The Johns Hopkins University reported in the July 2000 issue of Nature genetics(25 289293) that Pingelapese islanders with achromatopsia have a single http://serendip.brynmawr.edu/biology/b103/f01/web3/wise.html
Extractions: This paper was written by a student in a course at Bryn Mawr College, and reflects that student's research and thoughts at the time the paper was written. Like other things on Serendip , the paper is not intended to be "authoritative" but is instead provided to encourage others to themselves learn about and think through subjects of interest, and, by providing relevant web links, to serve as a "window" to help them do so. Web links were active as of the time the paper was posted but are not updated. Biology 103 On Serendip Pohnpei Landscape. Photo (c) FSM Visitors Board. Envision a tropical paradise, not unlike the island scene pictured above, complete with breathtaking scenery that includes crystal blue waters and luscious plant-life. Now imagine that you cannot see any of these things in color. This is the situation that between 5% and 10% of the native population of Pingelap Atoll, part of the Micronesian State of Pohnpei, find themselves in Supposedly, a freak typhoon-like storm ravaged the island in the late eighteenth century and killed a number of the island's inhabitants. Approximately 20 people survived to replenish the isolated island's population. Roughly four generations after the typhoon, the citizens of Pingelap began exhibiting symptoms of a rare recessive disorder known as Achromatopsia. Achromatopsia is characterized by extreme light sensitivity, poor vision, and complete inability to distinguish colors
CVNet: CVNet - Postdoc; Genetics Of Photoreceptors; Tuebingen and aquired retinal disorders (eg, Xchromsome-linked colourblindness, achromatopsia). Recentpublications include Nature genetics (1998, 19, 257-259) and http://www.visionscience.com/mail/cvnet/1999/0127.html
Extractions: A postdoctoral position (c. DM 70,000.00; BAT IIA) is available from 1 April 1999 in the Department of Experimental Ophthalmology. The position is within a Project (A6) Genotyping and Phenotyping of Human Cone Photoreceptors within a DFG Special Research Project (SFB 430) Cellular mechanisms of sensory processes and neuronal interaction. The group investigates the human visual system with psychophysical methods. The emphasis is on the biophysical properties of the photoreceptors. In order to correlate our results with photoreceptoral and neuronal processes, we collaborate closely with molecular biological (Dr Bernd Wissinger), electrophysiological (PD Dr Jan Kremers) and psychophysical (PD Dr Karl Gegenfurtner) research groups in Tübingen and in Great Britain, The Netherlands and the United States.
GENETICS and the disease's relation to genetics. Phenylketonuria brief definition; goodfor Middle School students. top. Color Blindness. The achromatopsia Network. http://207.239.98.44/genetics_project.htm
Extractions: GENETICS PROJECT For resources from the Bryn Mawr Library, click on Bibliography . Also, search on SIRS Discoverer and ProQuest, which are periodical subscription databases accessible from the library's main page. Go to "Virtual Internet Library," then "Online Resources." Using the resources provided, you should be able to determine the causes, symptoms, treatments, and the ways they are inherited for the following genetic disorders: Websites useful for more than one disease Achondroplasia (dwarfism) Neurofibromatosis (elephant man's disease) Albinism ... Huntington's Disease Websites Useful for More than One Topic: DNA from the Beginning, an Animated Primer on the Basics of DNA, Genes, and Heredity - Prepared by the Dolan DNA Learning Center, Cold Spring Harbor, NY. Gene Map of the Human Genome - National Institute of Health information Genetic Counseling: Coping with the Human Impact of Genetic Disease Genetic Defect Information - March of Dimes Genetic /Rare Conditions - University of Kansas Medical Center Genetic Science Learning Center well-organized site includes information on many different aspects of genetics; good for Middle School Students
Molecular And Cellular Biology Faculty/Ostrander genetics of prostate cancer Too many loci, too few genes. Canine CNGB3 mutationsestablish cone degeneration as a homologue of Pingelapese achromatopsia. http://depts.washington.edu/mcb/faculty/ostrandere.htm
Extractions: We are also interested in the role of prostate and breast cancer genes in human populations within both high risk families and the general population. With regard to the first we and our collaborators have undertaken a genome wide scan for cancer genes in a cohort of 254 high risk prostate cancer families. Genotyping of both affected and unaffected family members for all 254 families is complete and data analysis is underway. Published analyses of our data thus far have shown that prostate cancer is extremely heterogeneous, and that multiple loci are likely to be important. Stratification of families by clinical features of disease and family history are clearly two ways in which to simplify the problem. We recently published a genome wide scan of our first 94 families, which highlighted regions on chromosome 11 and 1 as potentially containing prostate cancer susceptibility loci.
Untitled Document Educational Resources. genetics of complex heritable diseases DISEASES AND CONDITIONS;DATABASE DISEASES; achromatopsia. Leber Hereditary Optic Neuropathy. http://www.rusmedserv.com/genetics/catalog/indcat.htm
Val Sheffield, M.D., Ph.D. Sheffield (1997). Homozygosity mapping of achromatopsia to chromosome2 using DNA pooling. Human Molecular genetics 6(5) 689694. Nystuen http://genetherapy.genetics.uiowa.edu/centermembers/peoplepages/valsheffield.htm
