Resources

GENETICS 101: AN INTRODUCTION TO GENETICS

GENERAL RESOURCES

CONDITION-SPECIFIC RESOURCES

• Cancer
• Cardio-Facio-Cutaneous Syndrome
• Cardiomyopathy
• Costello Syndrome
• Cystic Fibrosis
• Fabry Disease
• Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)
• Hearing Loss
• Sensorineural hearing loss
• Pendred Syndrome
• Usher Syndrome
• Marfan and Loeys-Dietz Syndromes
• Noonan Syndrome
• Transthyretin Amyloidosis

GENETIC DISCRIMINATION RESOURCES

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GENERAL RESOURCES

• Birth Defects Foundation
  http://www.bdfnewlife.co.uk/docs/home/home_1.php
  
  Child Physiology: How the Body Works
  http://www.sickkids.ca/childphysiology/cpwp/Genetics/geneticsintro.htm
  
  Disorders:
  http://www.listen-up.org/med/med2.htm
  
  Family Village- A global community of disability-related resources:
  http://www.familyvillage.wisc.edu/index.html
  
  Gene Tests Homepage
  www.genetests.org
  
  Genetic Alliance (including International Directory of Genetic Advocacy Organizations)
  http://www.geneticalliance.org/
  
  Genetics Home Reference:
  http://ghr.nlm.nih.gov
  
  National Society of Genetic Counselors:
  www.nsgc.org
  
  National Organization of Rare Diseases (NORD)
  http://www.rarediseases.org/
  
  Orphanet
  http://www.orpha.net/consor/cgi-bin/index.php
  
  Partners HealthCare Notice for Use and Sharing of Protected Health Information (pdf)
  
  United States National Library of Medicine:
  http://www.nlm.nih.gov/nlmhome.html

CONDITION-SPECIFIC RESOURCES

Cancer

• American Cancer Society
  http://www.cancer.org/docroot/home/index.asp
  
  American Society of Clinical Oncology
  http://www.asco.org/portal/site/ASCO
  
  Cancer Care
  http://cancercare.org/
  
  Colon Cancer Alliance
  http://www.ccalliance.org
  
  Colorectal Cancer Network
  http://www.colorectal-cancer.net
  
  Hereditary Colon Cancer Association (HCCA)
  http://www.hereditarycc.org
  
  National Cancer Institute
  http://www.cancer.gov/cancerinfo
  
  The National Coalition for Cancer Survivorship
  http://www.canceradvocacy.org/
  
  NINDS Von Hippel-Lindau Disease (VHL) Information Page
  http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm
  
  VHL Family Alliance
  http://www.vhl.org/
  
  Partners Affiliated Clinical Genetics Services for Cancer:
  
  Brigham and Women's Adult Genetics Program
  To schedule an appointment, call 617-732-5666
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  
  Dana-Farber Cancer Institute
  https://www.dfci.harvard.edu/default.aspx
  
  Massachusetts General Hospital, Cancer Center
  http://www.massgeneral.org/cancer/index.asp
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  

Cardio-Facio-Cutaneous Syndrome

• Cardio-Facio-Cutaneous Syndrome Support Network
  http://www.cfcsyndrome.org/
  
  Children's Craniofacial Association
  http://www.ccakids.com/
  
  Foundation for Ichthyosis and Related Skin Types
  http://www.scalyskin.org/
  
  
  Partners Affiliated Clinical Genetics Services for CFC syndrome:
  
  Children's Hospital Boston, Cardiovascular Genetics Program
  To schedule an appointment, call 617-355-2079
  http://www.childrenshospital.org/clinicalservices/Site528/mainpageS528P0.html
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  

Cardiomyopathy

• American College of Cardiology www.acc.org
  
      - ACC/ESC Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy
        www.acc.org/clinical/consensus/cardiomyopathy/index.pdf
  
      - Comprehensive Bibliography
        www.acc.org/clinical/consensus/cardiomyopathy/bibliography.pdf
  
  American Heart Association: Cardiomyopathy
  http://www.americanheart.org/presenter.jhtml?identifier=4468
  
  Barth Syndrome Foundation
  http://www.barthsyndrome.org/english/view.asp?x=1
  
  CardioGenomics
  http://cardiogenomics.med.harvard.edu/home
  
  Children's Cardiomyopathy Foundation, Inc.
  http://www.childrenscardiomyopathy.org
  
  Danon Disease
  http://www.danondisease.org
  
  Familial Dilated Cardiomyopathy (FDC) Project at Oregon Health & Science University (OHSU):
  http://www.fdc.to/
  
  Genetic testing in cardiac disease: from bench to bedside
  View the Article (pdf)
  
  Hypertrophic Cardiomyopathy Association
  www.4hcm.org
  
  Medline Plus: Cardiomyopathy
  http://www.nlm.nih.gov/medlineplus/ency/article/001105.htm
  
  Sudden Arrhythmia Death Syndromes (SADS) Foundations
  http://www.sads.org/
  
  The Cardiomyopathy Association
  http://www.cardiomyopathy.org/index.html
  
  Partners Affiliated Clinical Genetics Services for Cardiomyopathy:
  
  Brigham and Women's Hospital, Cardiovascular Genetics Center
  To schedule an appointment, call 1-800-MD-TO-BWH
  http://www.brighamandwomens.org/cvcenter/genetics/default.aspx
  
  Children's Hospital Boston, Cardiovascular Genetics Program
  To schedule an appointment, call 617-355-2079
  http://www.childrenshospital.org/clinicalservices/Site528/mainpageS528P0.html
  
  Children's Hospital Boston, Cardiomyopathy Program
  To schedule an appointment, call 617-355-6329
  http://www.childrenshospital.org/clinicalservices/Site1033/mainpageS1033P0.html
  
  

Costello Syndrome

• Costellokids
  http://www.costellokids.com/
  
  Children's Craniofacial Association
  http://www.ccakids.com/
  
  Costello Syndrome Family Network, Inc.
  Email: taos@earthlink.net
  
  The MAGIC Foundation
  http://www.magicfoundation.org/www
  
  Partners Affiliated Clinical Genetics Services for Costello syndrome:
  
  Children's Hospital Boston, Cardiovascular Genetics Program
  To schedule an appointment, call 617-355-2079
  http://www.childrenshospital.org/clinicalservices/Site528/mainpageS528P0.html
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  
  

Cystic Fibrosis

• Canadian Cystic Fibrosis Foundation
  www.ccff.ca
  
  Cystic Fibrosis Foundation
  www.cff.org
  
  Partners Affiliated Clinical Genetics Services for Cystic Fibrosis:
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp

Fabry Disease

• Fabry Community
  http://www.fabrycommunity.com
  
  Fabry Support and Information Group
  www.Fabry.org
  
  National Institute of Neurological Disorders and Stroke (NINDS)
  www.ninds.nih.gov/disorders/fabrys/fabrys.htm
  
  National Tay-Sachs and Allied Diseases Association, Inc
  www.ntsad.org
  
  Partners Affiliated Clinical Genetics Services for Fabry Disease:
  Children's Hospital Boston, Cardiovascular Genetics Program
  To schedule an appointment, call 617-355-2079
  http://www.childrenshospital.org/clinicalservices/Site528/mainpageS528P0.html
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  
  Brigham and Women's Adult Genetics Program
  To schedule an appointment, call 617-732-5666
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical

Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)

• The National Marfan Foundation
  http://www.marfan.org/nmf/index.jsp
  
  American Heart Association: Aortic Aneurysms
  http://www.americanheart.org/presenter.jhtml?identifier=4455
  
  Brigham and Women's Thoracic Aortic Aneurysm
  http://brighamandwomens.staywellsolutionsonline.com/Library/Encyclopedia/85,P08258
  
  Partners Affiliated Clinical Genetics Services for Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD):
  Brigham and Women's Adult Genetics Program
  To schedule an appointment, call Brigham and Women's Adult Genetics Program
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical

HEARING LOSS

Sensorineural hearing loss

• American Society for Deaf Children
  http://www.deafchildren.org
  
  Auditory Neuropathy Information Site
  http://auditoryneuropathy.com/ANindex.html
  
  Auditory Neuropathy Review by LSU Medical School
  http://www.medschool.lsuhsc.edu/Otorhinolaryngology/deafness_article1.asp
  
  Boys Town National Research Hospital
  http://www.boystownhospital.org/home.asp
  
  The Connexin-Deafness Homepage
  http://www.crg.es/deafness/
  
  The Harvard Medical School Center for Hereditary Deafness
  http://hearing.harvard.edu/index.htm
  
  Deafness Research Foundation
  http://www.drf.org
  
  Hereditary Hearing Loss Homepage
  http://webhost.ua.ac.be/hhh/
  
  Mitomap
  http://www.mitomap.org/
  
  National Association of the Deaf
  http://www.nad.org/
  
  National Institute on Deafness and Other Communication Disorders
  http://www.nidcd.nih.gov
  
  National Deaf Children's Society
  http://www.ndcs.org.uk/
  
  National Deaf Education Network & Clearinghouse
  http://clerccenter.gallaudet.edu/
  
  National Institute on Deafness and Other Communication Disorders: Auditory Neuropathy
  http://www.nidcd.nih.gov/health/hearing/neuropathy.asp
  
  United Mitochondrial Disease Foundation
  http://www.umdf.org/
  
  Self Help for Hard of Hearing People
  http://www.hearingloss.org/
  
  

Pendred Syndrome

• Pendred/BOR Homepage
  http://www.healthcare.uiowa.edu/labs/pendredandbor/pdsBackground.htm

Usher Syndrome

• Australian Deaf-Blind Council:
  http://home.connexus.net.au/~dba/
  
  Boys Town National Research Hospital: Usher Syndrome Information
  http://www.boystownhospital.org/Usher/information.asp
  
  The Foundation Fighting Blindness
  www.blindness.org
  
  Information on Deaf-Blindness
  http://www.tr.wou.edu/dblink/index.htm
  
  National Institute on Deafness and Other Communication Disorders: Usher Syndrome
  http://www.nidcd.nih.gov/health/hearing/usher.asp
  
  The Unique Educational and Services Needs of Children With Deaf-Blindness
  http://www.tsbvi.edu/Outreach/seehear/archive/unique.html
  
  Partners Affiliated Clinical Genetics Services for Hearing Loss:
  
  Children's Hospital Boston, Department of Otolaryngology and Communication Disorders Genetic Counseling Clinic
  To schedule an appointment, call 617-355-4534
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  

Marfan and Loeys-Dietz Syndromes

• The National Marfan Foundation
  http://www.marfan.org/nmf/index.jsp
  
  American Heart Association: What is Marfan syndrome?
  http://www.americanheart.org/presenter.jhtml?identifier=4672
  
  Canadian Marfan Association
  http://www.marfan.ca
  
  Coalition for Heritable Disorders of Connective Tissue
  http://www.chdct.org/
  
  International Federation of Marfan Syndrome Organizations
  http://www.marfanworld.org/
  
  Marfan Association United Kingdom
  http://marfan.org.uk/
  
  MedicineNet.com: Loeys-Dietz Syndrome
  http://www.medicinenet.com/loeys-dietz_syndrome/article.htm
  
  National Marfan Foundation
  http://www.marfan.org/nmf/index.jsp
  
  Sudden Arrhythmia Death Syndromes (SADS) Foundations
  http://www.sads.org/
  
  Partners Affiliated Clinical Genetics Services for Marfan and Loeys-Dietz Syndromes:
  
  Children's Hospital Boston, Cardiovascular Genetics Program
  To schedule an appointment, call 617-355-2079
  http://www.childrenshospital.org/clinicalservices/Site528/mainpageS528P0.html
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  
  Brigham and Women's Adult Genetics Program
  To schedule an appointment, call 617-732-5666
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  

Noonan Syndrome

• MAGIC Foundation for Children's Growth
  http://www.magicfoundation.org/www
  
  The Noonan Syndrome Support Group, Inc.
  http://www.noonansyndrome.org
  
  Partners Affiliated Clinical Genetics Services for Noonan syndrome:
  
  Children's Hospital Boston, Cardiovascular Genetics Program
  To schedule an appointment, call 617-355-2079
  http://www.childrenshospital.org/clinicalservices/Site528/mainpageS528P0.html
  
  Massachusetts General Hospital, Pediatric Genetics Program
  To schedule an appointment, call 617-726-1561
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical
  
  

Transthyretin Amyloidosis

• Amyloidosis Support Group
  www.amyloidosissupport.com
  
  American Liver Foundation
  http://www.liverfoundation.org/
  
  The Neuropathy Association
  www.neuropathy.org
  
  Please also see Cardiomyopathy Resources.
  
  Partners Affiliated Clinical Genetics Services for Transthyretin Amyloidosis:
  
  Brigham and Women's Hospital, Cardiovascular Genetics Center
  To schedule an appointment, call 1-800-MD-TO-BWH http://www.brighamandwomens.org/cvcenter/Services/genetics.aspx
  
  Brigham and Women's Adult Genetics Program
  To schedule an appointment, call 617-732-5666
  http://www.hpcgg.org/Clinical/appointment.jsp?name=clinical

GENETIC DISCRIMINATION RESOURCES

• National Society of Genetic Counselors
  http://www.nsgc.org/consumer/genetic_discrimination_resourse.asp
  
  National Conference of State Legislatures
  http://www.ncsl.org/programs/health/genetics/charts.htm
  
  National Human Genome Research Institute
  http://www.genome.gov/10002077
  
  Unites States Department of Health and Human Services, Office for Civil Rights (HIPAA)
  http://www.hhs.gov/ocr/hipaa
  
  Database for State Legislation
  http://www.genome.gov/PolicyEthics/LegDatabase/pubsearch.cfm
  
  Human Genome Project, Genetic Privacy and Legislation
  http://www.ornl.gov/sci/techresources/Human_Genome/elsi/legislat.shtml