21. Genetic Disorders genetic gen info Guide picks. Links to general information and resources forgenetic disorders. For specific disorders, search for the topic on the site. http://rarediseases.about.com/cs/geneticdisorders/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Genetic - gen info Guide picks Links to general information and resources for genetic disorders. For specific disorders, search for the topic on the site. Blazing a Genetic Trail Excellent articles on genes and disease, inheritance, basic genetics, and a glossary. From the Howard Hughes Medical Institute. GAPS Index to Genetic Disorders and Birth Defects Site provides definitions, links, support groups, glossary, and resources. From Genetic Information and Patient Services (GAPS). The Genetic Alliance International coalition offers publications, support gorups, email lists, advocacy, and events list. GeneClinics Information for health professionals on genetic diseases and disorders. Funded by the National Institutes of Health and the University of Washington.

22. Subjects Library genetic gen info Links to general information and resources for geneticdisorders. For specific disorders, search for the topic on the site. http://rarediseases.about.com/mlibrary.htm

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement General Information on Rare Diseases Links to databases of rare diseases around the world. Support Groups for Rare Diseases Links to directories/databases of support and advocacy groups and organizations for rare diseases. Support groups are also listed with their specific diseases on this site. Autoimmune Disorders Disorders in which the body in essence turns on itself and destroys its own cells. Blood disorders and dyscrasias Descriptions of problems with the things that make up blood, such as red blood cells, white cells, platelets, plasma, and enzymes that control what the blood does. Links to sites offering information and support. Bone Marrow Transplant Information and resources for bone marrow and stem cell transplantation.

23. [General Information] - Causes Of Birth Defects: Genetic Disorders And Birth Def Causes of Birth Defects genetic disorders and Birth Defects. In singlegene disorders, there is a change in the genetic blueprint. http://fbdr.hsc.usf.edu/general/causes/genetic.html

Causes of Birth Defects: Genetic Disorders and Birth Defects Genes are small components of every cell. They determine the appearance and function of our body. Genes are packed together in larger structures called chromosomes. Humans have 23 pairs of chromosomes, or 46, in every body cell. The sperm and eggs, however, have 23 chromosomes each. Twenty-two of the chromosomes are matched in pairs. These are known as autosomes and are numbered from #1 to #22. Thus, everyone has two copies of genes carried on the matched chromosomes. The 23rd pair, which are the sex chromosomes (X and Y), are matched in females (XX) but not in males (XY). There are three types of genetic disorders and birth defects: single gene chromosomal (multiple genes) multifactorial (environment and genes) In single gene disorders, there is a change in the genetic blueprint. These disorders are passed on from parents to children in different ways. The most common ways are:

24. IPL General/Reference Collection Genetic Disorders To the lobby ofthe Internet Public Library. genetic disorders Resources. Health Medical Sciences Diseases, disorders Syndromes genetic disorders. http://www.ipl.org.ar/ref/RR/static/hea14.34.00.html

25. THE MERCK MANUAL, Sec. 18, Ch. 247, Prenatal Genetic Evaluation And Counseling general. (See also Ch. 286.). genetic screening identifies persons at increasedrisk of developing or of conceiving offspring with genetic disorders. http://www.merck.com/pubs/mmanual/section18/chapter247/247a.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 18. Gynecology And Obstetrics Chapter 247. Prenatal Genetic Evaluation And Counseling Topics [General] Indications For Prenatal Diagnosis Prenatal Screening Prenatal Diagnostic Techniques ... Principles Of Counseling [General] (See also Ch. 286. Genetic screening identifies persons at increased risk of developing or of conceiving offspring with genetic disorders. Genetic screening is a routine part of prenatal care. An accurate family history should be obtained and summarized as a pedigree (commonly used symbols are described in Fig. 286-1 ). Minimum information includes three generations: all of the proband's first-degree relatives (parents, siblings, offspring) and second-degree relatives (aunts, uncles, grandparents) and their state of health. Complicated family histories require extended pedigrees. Ethnic background and consanguineous matings should be routinely queried. If genetic disorders are suspected, review of relevant medical records is necessary. Diagnoses of many genetic disorders are based on physical signs (phenotype) rather than symptoms. A detailed physical description is therefore vital, particularly of stillborns or newborns dying soon after birth. Photographs and full-body x-rays should be taken as part of the permanent record; they can be invaluable for future counseling. Cryopreservation of fetal tissues (liver, tissue containing fibroblasts) for future DNA or enzymatic studies is recommended if cause of death is uncertain.

26. THE MERCK MANUAL, Sec. 21, Ch. 286, General Principles Of Medical Genetics Topics. general. Inheritance Of SingleGene Defects. Chromosomal disorders. MitochondrialDNA Abnormalities. Cancer genetics. Forensic genetics. genetic Therapy. http://www.merck.com/pubs/mmanual/section21/chapter286/286j.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 21. Special Subjects Chapter 286. General Principles Of Medical Genetics Topics [General] Inheritance Of Single-Gene Defects Multifactorial Inheritance Nontraditional Inheritance ... Genetic Therapy Genetic Therapy Therapy for genetic disease is often very similar to therapy for other types of disorders. Special diets can eliminate compounds that are toxic to patients, such as those in phenylketonuria and homocystinuria. Vitamins or other agents can improve a biochemical pathway and thus reduce toxic levels of a compound. For example, folic acid reduces homocysteine levels in a person who carries the 5,10-methylene tetrahydrofolate reductase polymorphism. Therapy may involve replacing a deficiency or blocking an overactive pathway. A fetus can sometimes be treated by treating the mother (eg, corticosteroids for congenital virilizing adrenal hypoplasia) or by using in utero cellular therapy (eg, bone marrow transplantation). A newborn with a genetic disease may be a candidate for treatment with bone marrow or organ transplantation. Gene therapy may involve the insertion of normal copies of a gene into the cells of persons with a specific genetic disease. Trials of somatic gene therapy have been undertaken for very severe genetic disorders (eg, adenosine deaminase deficiency). Germline gene therapy could involve the correction of an abnormality in the genes of sperm or egg and is considered an inappropriate way to deal with genetic diseases because of ethical issues, cost, lack of research in humans, lack of knowledge about whether changes would be maintained in the growing embryo, and the relative ease of treating somatically when needed. Gene therapy could also involve turning off genes as by antisense DNA.

27. HealthyNJ--Information For Healthy Living--Genetic Disorders In general, the accuracy of the two procedures is comparable To read the rest of thisexcellent article on genetic disorders, please click here http//www.merck http://www.healthynj.org/dis-con/gene/main.htm

Additional Information General Description New Jersey Resources Recommended Web Sites Patient Education ... Prenatal Testing Genetics The body's genetic material is contained within the nucleus of each of its cells. The genetic material consists of coils of DNA (deoxyribonucleic acid) arranged in a complex way to form chromosomes. Human cells contain 46 chromosomes in pairs, including one pair of sex chromosomes. Each DNA molecule is a long double helix that resembles a spiral staircase. The steps of the staircase, which determine a person's genetic code, consist of pairs of four types of molecules called bases. In the steps, adenine is paired with thymine, and guanine is paired with cytosine. The genetic code is written in triplets, so each group of three steps of the staircase codes the production of one of the amino acids, which are the building blocks of proteins. A gene consists of the code required to construct one protein. Genes vary in size, depending on the size of the protein. Genes are arranged in a precise sequence on the chromosomes; the location of a particular gene is called its locus.

28. General References general References. Includes a list of genetic disorders tested in each state in theUnited States with definitions for these medical conditions and disorders. http://gslc.genetics.utah.edu/units/newborn/references.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Genetic Testing of Newborn Infants General References General References Serving the family from birth to medical home, newborn screening: a blueprint for the future, a call for a national agenda on state newborn screening programs. American Academy of Pediatrics Newborn Screening Task Force. Pediatrics. This report outlines the need for a standardized set of national guidelines for newborn screening and is the most comprehensive review to date of newborn screening issues in the United States. The article addresses all of the important concepts for developing newborn screening policy including the history of screening, variations in state policies, public health limitations, adding new tests, patient and family rights, use of residual blood samples, screening cost, and insurance programs, as well as many other issues not considered in this activity. Includes a list of genetic disorders tested in each state in the United States with definitions for these medical conditions and disorders. The European Society of Human Genetics A comprehensive resource for information concerning newborn screening, as well as other areas of genetics, in western European countries. Site contains public policy statements, links and resources for genetic services in Europe.

29. The Genetic Interest Group. Supporting Individuals Affected By Genetic Disorders general help with your video player. with a membership of over 120 charities whichsupport children, families and individuals affected by genetic disorders. http://www.gig.org.uk/clip_help.htm

Help and information for viewing the video clips. Selecting the right format to view Quality of video clips Downloading to view offline Full screen viewing ... General help with your video player Video quality on ordinary internet connection Please note online video can be poor quality when viewed on an ordinary internet connection (56k or less). You may find the download versions better. Close extra website windows: If you have extra website windows open (for other websites) for these may reduce the quality of online video clips, quality may be improved if you close them. Time of day: the internet can be more crowded (slow) after 5pm. Delay: There is often a delay of 10 seconds to a couple of minutes before a vidow clip begins to stream to your computer. What's the Choice ? Choose a video format. Select the quality When you select a video on our website you may choose from the following formats and levels of quality: Windows Player - For Ordinary connection. - For Broadband connection. - Download to view offline. Real Player - View online.

30. Internet Links For Information About Genetic Disorders And Care Groups Charities British Society for Human genetics Directorate general IIIE 3 at GenomeResearch Institute Cochrane Cystic Fibrosis and genetic disorders Group - is http://www.gig.org.uk/links.htm

Internet links for information about genetic disorders and care groups The internet is an excellent way to find information about genetic disorders and care groups. If you would like your favourite pages added to this site, please email melissa@gig.org.uk . For other links click here = recommended site Academic and Government Ethics and policy debate The Media and Public Understanding of Science Human Genetics Academic and Government Advisory Committee on Genetic Testing Association of Medical Research Charities British Society for Human Genetics Directorate General III-E 3 at the European Commission pharmaceutical and cosmetic department of the EU. Includes "Rules governing medicinal products in the EU" Directory of UK Academic Sites Directory of UK Research Sites Directory of UK Universities European Commission study of socio-economic research in the life sciences ... Medline at Healthworks - searchable database of published scientific and medical literature. You can search by keyword (e.g. drug name), author, journal and date. London IDEAS Genetics Knowledge Park www.gene.ucl.ac.uk/ideas

31. General Public: Genetic Disorder Research At Genzyme return to general Public main page. Other genetic disorders Research beingconducted at Genzyme. Introduction. Treatment for the following http://www.genzyme.com.au/public/research_and_development_public.htm

Other Genetic Disorders Research being conducted at Genzyme Introduction Treatment for the following genetic disorders is currently being investigated by Genzyme and various collaborators. Cystic Fibrosis Hereditary Angioedema Pemphigus Vulgaris here Cystic Fibrosis More details coming soon! Top of Page Hereditary Angioedema More details coming soon! Top of Page Pemphigus Vulgaris More details coming soon! Top of Page Need more information Top of Page Next Page Genzyme Australasia, 1999-2000. Last updated 27 March 2003 02:24 PM Website designed, built and maintained by Genzyme Australasia Pty Ltd and Labyrinthos Internet Agency

32. Information Resources For Medical Practitioners From Genzyme Australasia are a number of support groups for patients living with genetic disorders. Detailsabout these groups can be found in the Genzyme general Public Information http://www.genzyme.com.au/practitioners/info_resources_mp.htm

patient information kits product information slide kits newsletters ... information request form Gaucher Disease Information Resources for Medical Practitioners A number of resources are available from Genzyme to assist with both Medical Practitioner and patient education. Please take your time to review the material available below . If we have a brochure or information kit you need, use Genzyme's on-line information request form to make your selection. We'll get the requested information to you as quickly as possible. If you have any other queries contact Genzyme Australasia by phone: (61 2) 9630 8383 or fax: (61 2) 9634 2777. You can also email our offices admin@genzyme.com.au A guide for patients with Gaucher Disease Request a copy Straight Talk About the Inheritance of Gaucher Disease A Guide for Patients and Family Request a copy Living with Gaucher Disease A Guide for Patients, Parents, Family and Friends Request a copy Top of Page Product Information Cerezyme (Imiglucerase-rch) Powder for Injection - Product Monograph Provides an overview of Gaucher Disease; Enzyme Replacement Therapy; and Cerezyme Product Information.

33. MSRGSNet/Genetic Drift/Management Of Common Genetic Disorders family should be referred for genetic counseling to In general, they have an acceleratedaging Psychiatric disorders, particularly depression, can occur and http://www.mostgene.org/gd/gdvol16c.htm

Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders Vol. 16: Summer, 1998 Down Syndrome / Trisomy 21 Introduction Trisomy 21 is the most common autosomal chromosome abnormality with an incidence of 1/800 live births. It occurs in all ethnic groups. Ninety-five percent are due to meiotic non-disjunction. Most of the time the extra chromosome is of maternal origin and the risk increases with increasing maternal age. A translocation is seen in 3-4% of cases, about half of which are de novo and half familial. Mosaicism is seen in 1-2% of children and the clinical picture correlates somewhat with the percentage of normal cells. The recurrence risk depends upon the etiology. In cases with non-disjunction and de novo translocations, the risk is about 1% plus the maternal age risk. Familial 21/21 translocations have a 100% recurrence risk. Other translocations have a lower recurrence risk with a 2-5% risk if the carrier is the father and a 10-15% risk if the mother is the carrier. Clinical Features Individuals with Down syndrome have characteristic facies and typical minor anomalies. Most striking in the newborn are the upslanting palpebral fissures, protruding tongue, abnormal palmar creases, and hypotonia. Once the diagnosis is suspected, it should be confirmed by a chromosomal analysis on cultured lymphocytes.

34. MoSt GeNe: General Information About Genetic Services general Information About genetic Services. genetically determined disorders accountfor a major portion of health care Referrals for a genetic Consultation http://www.mostgene.org/dir/genserve.htm

General Information About Genetic Services Impact of Medical Genetics Genetics has been transformed from a research oriented academic field dealing with a few rare diseases into an increasing useful and accessible medical specialty . . . Genetically determined disorders account for a major portion of health care services. . . Referrals for a Genetic Consultation After evaluation and diagnosis, genetics center personnel can provide advice about laboratory tests, family support groups, sources of subspecialty care, and the availability of education, community, social service, and financial resources. . . Indications for Genetic Counseling Referrals A list of classical indications for genetics referrals is listed . . . What to Expect from a Genetics Consultation Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. . . Important Questions To Ask Your Health Insurance Provider Important questions to ask of your health insurance provider when having a counseling session, physical examination to diagnosis a genetic condition, carrier screening, prenatal diagnosis, or genetic laboratory testing. Questions You May Have For Your Genetic Specialist A checklist of key questions to consider asking when meeting with a genetic specialist.

35. Genetic Disorders - Psychoconsult.co.uk general Information Overview - Drug Listing. DELUSIONAL PARANOID disordersPARANOIA Disease / general Information What is a Delusional Disorder? http://www.psychoconsult.co.uk/patientssite/diseaseareaspatients/delusionaldisor

36. The Health Library — Genetics And Birth Defects Birth Defects (general), of Rare DiseasesNational Organization for Rare disorders(NORD genetic and Rare Conditions (Support Groups and Information)University http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 2 Page 3 Page 4 Page 5 General Genetics Organizations National Human Genome Research Institute (NHGRI) National Center for Biotechnology Information (NCBI Overviews Genetic Disorders:MEDLINEplus Human Genome Project Information:U.S. Department of Energy Genetics and Public Health In the 21st Century:CDC What are Genetic Disorders?: University of Utah Medical School ... Genetics/Birth Defects Topics:MEDLINEplus Genetic Testing and Counseling Genetic Testing/Counseling:MEDLINEplus An Introduction to Genetics and Genetic Testing:The Nemours Foundation Genetic Screening:University of Michigan Health System Maternal Serum Screening for Birth Defects:American College of Obstetricians and Gynecologists Gene Therapy Genes and Gene Therapy:MEDLINEplus Questions and Answers About Gene Therapy:National Cancer Institute Human Gene Therapy and the Role of the FDA:FDA Programs of Excellence in Gene Therapy:NHLBI Genetics of Specific Diseases GeneReviews:University of Washington Genetics and Ashkenazi Jewish Populations:University of Pittsburgh [PDF] Genes and Disease:NCBI Online Mendelian Inheritance in Man: NCBI See also specific diseases in the Diseases and Disorders pages of The Health Library website.

37. Who Helps Families Cope With Genetic Disorders? have members with birth defects or genetic disorders, to individuals genetic counselorsserve as educators and resource professionals and for the general public http://www.faseb.org/genetics/gsa/careers/bro-09.htm

Who helps families cope with genetic disorders? Genetic counselors are health professionals who work as members of a health care team providing information and support to families who have members with birth defects or genetic disorders, to individuals who themselves are affected with a genetic condition and to families who may be at risk for a variety of inherited problems. Genetic counselors identify families at risk, obtain the family medical history, obtain and interpret medical records and interpret information about the genetic condition. Inheritance patterns are analyzed and risks of recurrence and available options are reviewed with the family or individual. In addition to providing supportive counseling to families, genetic counselors serve as patient advocates and refer individuals and families to community or state support services. Career Profile Joan Scott I first became interested in genetics while an undergraduate student at Kent State University majoring in physical anthropology. During my junior year, however, I began to seriously consider what career to pursue. I realized that I wanted a career that would combine my interest in the sciences, especially genetics, with my desire to work with people. It just so happened that at the same time I had begun to look for information on spina bifida, a birth defect that had occurred in my family. I was interested in learning the cause of spina bifida, whether it was genetic, and if I would be at risk some day to have an affected child. I remember thinking, "Where do people like me go with these kinds of questions? There must be someone trained to provide this information." Without realizing it, I defined the profession of genetic counseling. Not long after I learned that there was such a profession and that graduate training programs existed.

38. Bigchalk: HomeworkCentral: Genetic & Inherited Disorders (Genetic Diseases In Hu Prevention; Research Advances; Reference. OTHER disorders general;genetic disorders AL; genetic disorders MZ. Privacy Policy Terms http://www.bigchalk.com/cgi-bin/WebObjects/WOPortal.woa/Homework/Middle_School/S

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39. All Topics -- NC Health Info Air Pollution; Alagille Syndrome see genetic disorders; Alcohol Abuse in Allergy;ALS see Neurologic disorders (general) or Amyotrophic Lateral Sclerosis; http://www.nchealthinfo.org/text/topics.cfm

skip navigation Graphical Version About Site Map ... Home Topics After you choose a topic, you will be prompted to choose a geographic location. Find a topic by its first letter A B C D ... Y Numbers 12 Step Programs see Support Groups 2-1-1 Information and Referral see Referral Services A AA see Alcohol Abuse Programs Abdominal Pain see Pain Abnormalities see Birth Defects ABO Blood Groups see Blood/Blood Transfusion About Your Medicines Abuse see Domestic Violence Acid Reflux see Gastroesophageal Reflux/Hiatal Hernia or Digestive Disorders (General) Acne see Skin Disorders (General) Acoustic Neuroma see Acquired Immunodeficiency Syndrome see AIDS Acupuncture Acupuncturists ADD see Attention Deficit Disorder with Hyperactivity Adenoids see Mouth Disorders ADHD see Attention Deficit Disorder with Hyperactivity Adolescent Health see Teen Health Adolescent Medicine see Pediatricians Adoption Adrenal Gland Disorders see Endocrine Disorders (General) Adult Congregate Facilities see Assisted Living Facilities Adult Day Care Adult Group Homes see Group Homes Adult Immunization see Immunization and Related Topics Advance Directives see Death and Dying Agent Orange see Veteran's Health AIDS AIDS and Pregnancy see AIDS Air Pollution Alagille Syndrome see Genetic Disorders Alcohol Abuse in Pregnancy see Pregnancy and Substance Abuse Alcohol Abuse Programs Alcohol and Youth Alcoholism ... Allergy ALS see Neurologic Disorders (General) or Amyotrophic Lateral Sclerosis Alternative Medicine Alzheimer's Disease Ambulatory Care Centers Amenorrhea see Menstruation Amniocentesis see Prenatal Testing or

40. EDGE - Curriculum - Biology RESOURCES geneticS general. Deafness. Down Syndrome. SickleCell Anemia. Other genetic disorders. http://www.disabledwomen.net/edge/curriculum/bio_res_gen_menu.htm

e d g e - education for disability and gender equity Biology CONTENTS GENETIC DISORDERS Intro Single gene disorders Additional chromosomes Activity ... Resources SPINAL CORD INJURY Intro Spinal cord and vertebrae Effects of SCI Activity ... HELP RESOURCES - GENETICS General Information People Deafness Information People Down Syndrome Information People Sickle Cell Anemia Information People Other Genetic Disorders Information People GENERAL - Information Great Site for Genetics Info - Genetic Science Learning Center - gslc.genetics.utah.edu/ Genetic Disorders Information for Students - gslc.genetics.utah.edu/students.html#anchordisorders Chromosone Abnormalities Single Gene Disorders 30 New Mutations per Lifetime GENERAL - People Families with Fetuses with Genetic Disorders - gslc.genetics.utah.edu/disorders/definition/treatment.html Camp for Kids with Genetic Differences - gslc.genetics.utah.edu/disorders/nfcamp.html

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