Disease Specific Resources

Listed below are outside resources for some of the genetic diseases tested for at the Laboratory for Molecular Medicine (LMM).

Cancer
Cardio-Facio-Cutaneous Syndrome
Cardiomyopathy
Costello Syndrome
Fabry Disease
Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)
Hearing Loss

Marfan and Loeys-Dietz Syndromes
Noonan Syndrome
Transthyretin Amyloidosis


Cancer

American Cancer Society
http://www.cancer.org/index

American Society of Clinical Oncology
http://www.asco.org/portal/site/ASCOv2

Cancer Care
http://www.cancercare.org/

Colon Cancer Alliance
http://www.ccalliance.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

Dana-Farber Cancer Institute
http://www.dana-farber.org/

Massachusetts General Hospital, Cancer Center
http://www.massgeneral.org/cancer/

Massachusetts General Hospital, Pediatric Genetics Program
To schedule an appointment, call 617-726-1561

http://www.massgeneral.org/children/services/treatmentprograms.aspx?id=1632


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.firstskinfoundation.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.massgeneral.org/children/services/treatmentprograms.aspx?id=1632


Cardiomyopathy

American College of Cardiology

http://www.cardiosource.org/acc

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/Departments_and_Services/medicine/services/cvcenter/genetics/

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/

Costello Syndrome Family Network, Inc.

www.CostelloSyndromeUSA.org

Email: Sandra@CostelloSyndromeUSA.org
Lisa@CostelloSyndromeUSA.org

 

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.massgeneral.org/children/services/treatmentprograms.aspx?id=1632


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.massgeneral.org/children/services/treatmentprograms.aspx?id=1632

Brigham and Women's Adult Genetics Program
To schedule an appointment, call 617-732-5666
http://www.brighamandwomens.org/Departments_and_Services/medicine/services/genetics/


Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)

American Heart Association: Aortic Aneurysms
http://my.americanheart.org

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.brighamandwomens.org/Departments_and_Services/medicine/services/genetics/


Hearing Loss

Sensorineural hearing loss

American Society for Deaf Children
http://www.deafchildren.org

Auditory Neuropathy Information Site
http://auditoryneuropathy.com/ANindex.html

Boys Town National Research Hospital
http://www.boystownhospital.org/pages/default.aspx

The Connexin-Deafness Homepage
http://davinci.crg.es/deafness/

The Decibels Foundation

http://www.decibelsfoundation.org

The Harvard Medical School Center for Hereditary Deafness
http://hearing.harvard.edu/

Hearing Health Foundation
http://hearinghealthfoundation.org/

Hereditary Hearing Loss Homepage
http://hereditaryhearingloss.org/

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://www.gallaudet.edu/clerc_center.html/

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://deafblind.org.au/

Boys Town National Research Hospital: Usher Syndrome Information
http://www.boystownhospital.org/research/molecularstudies/Pages/UsherSyndrome.aspx

The Coalition for Usher Syndrome

http://www.usher-syndrome.org

The Foundation Fighting Blindness
www.blindness.org

 

The National Consortium on Deaf-Blindness

http://nationaldb.org/

 

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/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.massgeneral.org/children/services/treatmentprograms.aspx?id=1632


Marfan and Loeys-Dietz Syndromes

Canadian Marfan Association
http://www.marfan.ca

Marfan Association United Kingdom
http://www.marfan-association.org.uk/

MedicineNet.com: Loeys-Dietz Syndrome
http://www.medicinenet.com/loeys-dietz_syndrome/article.htm

The National Marfan Foundation
http://www.marfan.org/marfan/

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.massgeneral.org/children/services/treatmentprograms.aspx?id=1632

Brigham and Women's Adult Genetics Program
To schedule an appointment, call 617-732-5666
http://www.brighamandwomens.org/Departments_and_Services/medicine/services/genetics/


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.massgeneral.org/children/services/treatmentprograms.aspx?id=1632


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/Departments_and_Services/medicine/services/cvcenter/genetics/ 

 

Brigham and Women's Adult Genetics Program
To schedule an appointment, call 617-732-5666
http://www.brighamandwomens.org/Departments_and_Services/medicine/services/genetics/