21. Mitoblog | Everything About Mitochondrial Disease Blog about mitochondrial disease. http://www.mitoblog.org/

Diagnosis Muscle Biopsy Information Media ... Mitoblog Everything about Mitochondrial Disease Home About Links The Basics ... RSS Aug Dr. Fran Kendall, of Virtual Medical Practice, has put together a great document to start with when faced with the decisions surrounding a muscle biopsy -   Muscle Biospy FAQs Comments 0 Comments Categories Diagnosis Information Muscle Biopsy Author lnhiggins UMDF Symposium 2011 Jun Word has it that the 2011 Symposium will be in mid-June in CHICAGO in 2011! Stay tuned for more information as we get it! Comments 0 Comments Categories Organizations UMDF Author lnhiggins Apr Vamsi Mootha, MD, PhD at Harvard speaks on behalf of Mitoaction.org about the impact of the mitochondria on many common diseases and the aging process in this video. Definitely interesting! Comments 0 Comments Categories Information Media Videos Author admin Apr Comments 0 Comments Categories Information Media Videos Author admin Autism Speaks Looking at Mitochondrial Dysfunction as Cause Mar Hannah Poling case On the Autism Speaks blog, a recent article was posted that I feel would be very beneficial to the mito community and the autism community to read. It looks at the relationship between f ever and mitochondrial disease as a cause for autism and autistic regression . Clearly, this is a link that needs further study and serious research.

22. Chicago Center For Jewish Genetic Disorders Genetic Alliance The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care http://www.geneticalliance.org/organization/chicago-center-jewish-genetic-disord

23. Daunorubicin - Summary Of Product Characteristics (SPC) - Electronic Medicines C Congenital, familial and genetic disorders. General disorders and administration site conditions. Aplasia. Death, fulminant hyperpyrexia, perivenous extravasation (immediate local pain http://www.medicines.org.uk/emc/medicine/4263

Home About Help eMC Medicine Guides The electronic Medicines Compendium (eMC) contains information about UK licensed medicines. Search for: select select SPCs and PILs SPCs Only PILs Only SPCs and PILs SPCs Only PILs Only Search Medicine or Company Name Search Full Document Advanced Search What's New Browse Medicines Browse Active Ingredients / Generics ... Yellow Card Report Winthrop Pharmaceuticals UK Ltd One Onslow Street, Guildford, Surrey, GU1 4YS, UK Telephone: +44 (0)1483 505 515 Fax: +44 (0)1483 554 831 E-mail: UK-medicalinformation@sanofi-aventis.com Medical Information Direct Line: +44 (0)1483 554 101 Medical Information Fax: +44 (0)1483 554 831 Before you contact this company: often several companies will market medicines with the same active ingredient. Please check that this is the correct company before contacting them. Why? If you are going to contact a pharmaceutical company to either discuss a medicine, or report a suspected adverse event, to ensure that you receive complete and accurate information, please make sure that you contact the company that is the Marketing Authorisation (MA) holder (or the local/ country representative) of the medicine that you are actually using. Often several companies will hold MAs for the same medicine, and the Summary of Product Characteristics (SPC) may differ. The information in a company SPC relates specifically to that company's product and it cannot be assumed that it is applicable to a product from any other company. For example the medicines may have different excipients/ formulations or licensed indications/ contraindications for use. Accessing information inappropriately may have implications for patient safety and care should be taken to confirm that the correct source is used.

24. Chicago Center For Jewish Genetic Disorders | CCJGD A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources. http://www.jewishgeneticscenter.org/

Please contact us directly if you are interested in making a donation to the Chicago Center for Jewish Genetic Disorders. jewishgeneticsctr@juf.org Sign Up for the E-Newsletter Login FEATURED Follow the Center on Twitter! @jewishgenetics So You Want to Be a Genetic Counselor - Our summer intern talks about her career path, from college courses to tips from the pros. Learn more in our Young Adults portal. LATEST NEWS Healthcare's best-kept secret A Cleveland Clinic study demonstrates the clear value in collecting family health histories, and for far less than the cost of genetic testing. Stuff (NZ), Nov 9, 2010, by The Associated Press New research on implications of direct-to-consumer and clinical genetic testing Scientists present latest research findings on the public's understanding, use, and attitudes toward personalized genetic testing at ASHG 60th Annual Meeting American Society of Human Genetics Press Release, Nov 5, 2010 Feds Surprise Biotech Industry With Gene Patent Rule The U.S. Justice Department is proposing to overturn 30 years of legal precedent by sharply limiting patents on genes. NPR, Nov 4, 2010, by Richard Harris

25. First Step Therapy Centre Case Studies Metabolic Genetic Disorders - General Physical Disabilities and also for - Stroke Brain Injury - Multiple Sclerosis (MS) - Parkinson’s Disease and other neurological http://www.first-step-therapy.com/case_studies.html

Case Studies Below are case studies detailing therapy results that have been produced as part of our work for disabled children and adults. We deal with patients with all kinds of neurological problems and physical disabilities. For children, the First Step Therapy Method is also well suited to the treatment of: - Cerebral Palsy - Autism and ASD - Attention Deficit / Hyperactivity Disorder (ADHD) - Global Developmental Delay - Sensory Integration Impairment - General Physical Disabilities and also for - Multiple Sclerosis (MS) - Parkinson�s Disease and other neurological conditions. Over time we will be building up a portfolio of case studies on these conditions as they arise. We have already included some here for your information. Autism and ASD Conor's Journey Genetic Disorders Michelle's Journey Cerebral Palsy Patrick's Journey Cervical Spondylosis Patient Alina assessed and treated with general physiotherapy techniques and Transcutaneous Electrical Nerve Stimulation (TENS), etc. Alina writes... "I wanted to write and thank you for the treatment you have provided me over the last few weeks.

26. AGENDA OF 211TH MEETING OF CENTRAL LICENSING Congenital and familial/genetic disorders; General disorders and administrative site conditions; Investigations; Injury and poisoning; Surgical and medical procedures http://www.dcomoh.gov.pk/downloads/211 Meeting Misc (R-II South).doc

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27. Encyclopedia Of Genetic Disorders Has information on the underlying genetic mechanism. http://health.enotes.com/genetic-disorders-encyclopedia/branchiootorenal-syndrom

28. Welcome | Cochrane Cystic Fibrosis And Genetic Disorders Group An international network of health care professionals, researchers and consumers preparing, maintaining, and disseminating systematic reviews of randomised control trials in the treatment of cystic fibrosis and other genetic disorders. http://www.liv.ac.uk/CFGD/

Cochrane Cystic Fibrosis and Genetic Disorders Group Welcome Activities of the Group are co-ordinated by its Editorial Base, located within the Department of Child Health, University of Liverpool and based at Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom. Published reviews and protocols On Issue 10, 2010 of The Cochrane Library we have published one new review 'Antibiotic adjuvant therapy for pulmonary infection in cystic fibrosis'. We have also updated the following reviews: Phytomedicines (medicines derived from plants) for sickle cell disease Treatments for priapism in boys and men with sickle cell disease Ursodeoxycholic acid for liver disease In total the Group has 94 reviews and 18 protocols published on Issue 10, 2010 of The Cochrane Library. There are also 10 registered titles currently progressing to protocol status. The production of these reviews involves a network of almost 550 authors, consumers and referees throughout the world. We very much welcome interest from new consumers, referees and potential reviewers. Further information can be obtained by contacting the group. Regularly updated evidence-based healthcare databases User guides Access options Page last updated: Tue 26th Oct 2010 10:54:41 CEST Search Current news at The Cochrane Collaboration Launch of the Safe Motherhood Initiative Evidence Aid for water safety and water related diseases Live broadcast from Keystone 21 October: "Can early stopped trials result in misleading results of systematic reviews?"

29. Pedigree Project R 576.50 Wor The World of Genetic Disorders. General Resources - start your Internet search with these sites Search terms the disease and use the words genetics or heredity http://www.wtps.org/wths/imc/Pathfinders/heredity and diseasest.htm

Researching Heredity and Diseases Databases Books Internet Resources Online Subscription Databases The IMC's databases are a fabulous resource for your project. They include articles from books, magazines, scholarly journals, and newspapers. You can also find multimedia and primary documents. Use the following: Health Reference Center from Facts on File Health Source- Consumer edition from Ebsco Health Source- Nursing edition from Ebsco MasterFile Premier from Ebsco Science Resource Center from Thomson/Gale from Rosen Publishing eBooks WebCollection Plus is are online catalog; use this to locate books, videos, DVDs on your topic Use a Power Search to locate books on specific diseases Reference Books on Genetic Diseases are located in R 616 Wyn - The Encyclopedia of Genetic Disorders and Birth Defects R 616.003 Hum - Human Diseases and Conditions R 576.50 Wor - The World of Genetic Disorders General Resources - start your Internet search with these sites Search terms: the disease and use the words genetics or heredity "human genome" and disease genome and the specific disease

30. Cohen Syndrome Encyclopedia Of Genetic Disorders Gives the state of knowledge of demographics, genetic cause, and symptoms. http://health.enotes.com/genetic-disorders-encyclopedia/cohen-syndrome

31. ACDD - Links- Conditions- Genetic Disorders Links Conditions- Genetic Disorders. Genetic Disorders General. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own http://acdd.org/content.asp?id=228872

32. Hydrolethalus Syndrome Encyclopedia Of Genetic Disorders A patient s guide to Salonen-Herva-Norio Syndrome. http://health.enotes.com/genetic-disorders-encyclopedia/hydrolethalus-syndrome

33. Division Of Medical Genetics :: The Division offers comprehensive Clinical Genetics Services for genetic and metabolic diseases including diagnosis, management, treatment, and genetic counseling. http://pediatrics.duke.edu/modules/div_medgen_clinsvcs/index.php?id=1

34. Unique - The Rare Chromosome Disorder Support Group - Www.RareChromo.org Support and information for families of children with rare disorders. http://www.rarechromo.org/

PO Box 2189 Caterham Surrey United Kingdom Tel: +44 (0)1883 330766 Email: info@rarechromo.org Registered Charity No. 1110661 Home About Us Meet the Team Join Us ... Site Map We comply with the HONcode standard for trustworthy health information: verify here We were awarded the Charities Online Accounts Award 2006. Click here for more information. Welcome to Unique Click on the image above to download our free information leaflets on many chromosome disorders Click on the image above to purchase Unique Christmas cards Unique is a source of information and support to families and individuals affected by any rare chromosome disorder and to the professionals who work with them. Unique is a UK-based charity but welcomes members worldwide. Membership of Unique is free but the group receives no government funding and is heavily reliant on donations and fundraising to continue its work. Please help us in whatever way you can. You may have been given a diagnosis or indication of a chromosome disorder by a geneticist or other medical professional and they may have used a medical term which is unfamiliar to you. So to help you decide if Unique is the appropriate organisation for you, we thought it would be useful to describe the different categories of rare chromosome disorder. Rare chromosome disorders can be grouped as structural disorders, numerical disorders and other miscellaneous disorders. Structural disorders include:

35. Welcome To ArabianHorses.org Genetic Disorders General Information. AHA Code of Ethics Revision; Genetic Disorders and the Arabian Horse An Overview Genetic Disorders and the Arabian Horse - Genetic Diseases http://www.arabianhorses.org/education/genetic/default.asp

Home About AHA Contact Us FAQ November 14, 2010 Members Login Genetics and Genetic Disorders To help support research efforts, the Arabian Horse Foundation was officially re-launched at the 2007 AHA Convention. This 501(c)(3) organization focuses on several areas of funding, including equine research specifically concerning disorders and illnesses that affect the Arabian breed. In May 2008, the Foundation named a Research Advisory Panel to assist the Foundation in prioritizing research projects for potential funding. Please participate in supporting the Foundation's efforts by sending your tax deductible contributions designated for research to: Arabian Horse Foundation, Treasurer - Jim Cada, 1024 K. St., Lincoln, NE 68508. For more information on the Foundation or to make a contribution online click here Question and Answer Forum Click here to access the Question and Answer Forum found on the AHA Community Forum. If you are not yet a member of the Forums, sign-up today, registration is free. Genetics Overview Calculating Relatedness Preservation Breeding and Population Genetics Questioning Breeding Myths in Light of Genetics Genetic Disorders General Information AHA Code of Ethics Revision Genetic Disorders and the Arabian Horse - An Overview Genetic Disorders and the Arabian Horse - Genetic Diseases Forum: November 2009 CID: The Paradigm Has Shifted Arabian Horse World Editorial Horse Genome Project: Its Effect on Genetic Testing Cerebellar Abiotrophy (CA) UC Davis Cerebellar Abiotrophy Information Cerebellar Abiotrophy: A Review Cerebellar-Abiotrophy.org

36. GendersInX.org Support and encouragement for people with congenital gender variations. http://GendersInX.org

37. New Jersey Psychiatric Association Such disorders may have many sources, both physiological (such as genetic disorders, general medical illnesses, and local brain disease or dysfunction), and experiential (such as http://www.psychnj.org/psych/index.htm

38. PCD Interest Group Information on a rare congenital disease. http://www.p-c-d.org/en/

Always suffering a cold? Do you recognize this: Suffering a continuous "cold"? Too much coughing and/or sneezing? Many infections in lungs, ears etc..? Primary Ciliary Dyskinesia If you find the above symptoms within yourself and you don't know the cause of these, think about PCD (short for Primary Ciliary Dyskinesia). On this Web-site we set up a survey with Frequently Asked Questions on PCD. There also is an Online Brochure with more extensive information available on this site. PCD Interest Group It is the PCD Interest Group ( PCD Belangengroep ) that devotes for the interests of the patients. If you have any questions and/or remarks... Contact us by sending an E-mail to info@p-c-d.org Online Brochure FAQ's Articles ... Links Last change on this site: Friday December 21, 2007

39. Health/Medicine OMIM, Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. General Science Full Text (OmniFile) Encyclopedia of Life Sciences http://www.slc.edu/library/research_tools/databases/subjects/health.htm

catalog databases online journals other library catalogs ... government information Health/Medicine To access a database, click on the database name. To access search tips on a particular database click on the " " next to the database name. N.B. If a database has an EXIT option please use it, as some databases restrict the number of simultaneous users. ScienceDirect MEDLINE (PubMed) The National Library of Medicine's gateway to MEDLINE, HealthStar, OLD MEDLINE, AIDSLINE, AIDSDRUGS, AIDSTRIALS, DIRLINE, HISTLINE and HSRPROJ. OMIM OMIM, Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. General Science Full Text (OmniFile) Encyclopedia of Life Sciences This site is intended for scientists, students, librarians and other professionals who wish to search and use ELS material prior to official publication of the full work in 2001. The full-text of over 1800 articles can be searched on this site as well as author and contents details for a further 1150 articles currently in preparation. Cochrane Library MEDLINE plus Health information. Includes information on conditions, diseases and wellness, a medical encyclopedia and more.

40. MECP2 Duplication Syndrome Provides information and support for families affected by this genetic condition first discovered in 2005. http://www.mecp2duplication.com/cms/

Home About MECP2 Families Community ... Join The Fight! Select Language English Arabic Bulgarian Chinese (Simplified) Chinese (Traditional) Croatian Czech Danish Dutch Finnish French German Greek Hindi Italian Japanese Korean Norwegian Polish Portuguese Romanian Russian Spanish Swedish Catalan Filipino Hebrew Indonesian Latvian Lithuanian Serbian Slovak Slovenian Ukrainian Vietnamese Albanian Estonian Galician Hungarian Maltese Thai Turkish Persian Afrikaans Malay Swahili Irish Welsh Belarusian Icelandic Macedonian Yiddish Main Menu Home About MECP2 Families Community ... Personal Reflections Latest Updates Phillipp(Germany) Joshua (Ohio, USA) David (Scotland, UK) Tom (Portugal) ... Romy (The Netherlands) The site for families affected by MECP2 My name is Pam Albert and I am the mother of 3 children – Amber, Noah and Braden.  Noah passed away on March 24, 2006...a month away from his 6 th birthday. At the time of his passing, he had not been given a diagnosis, despite our efforts of having him seen by many doctors and put through numerous tests.  Doctors suspected that he had a mitochondrial disorder. On July 21, 2004, I was blessed with another son, Braden.  We knew that something was wrong when we noticed he wasn’t tracking items with his eyes, was very floppy and not achieving milestones such as sitting and crawling.  When Braden was 2 years old, he was given the diagnosis of MECP2

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