Niemann-Pick Disease - Jewish Genetic Disease

Description
Niemann-Pick is an autosomal recessive genetic disease.
There are four clinical types of Niemann-Pick Disease: A, B, C, D.
Type A and Type B are caused by the lack of a substance called ASM-acid sphingomylinase which breaks down a substance called sphingomyeline. Lack of ASM causes buildup of sphingomyeline in certain cells and causes damage to the central nervous system, liver, and lungs. Type A and B are the result of mutation of the SMPD1 gene located on chromosome 11.

Though both Type A and B are caused by deficiency of ASM, Type A, which is most prevalent, is a severe neurological disease that generally leads to death between two and three years of age. Type B has little or no neurological involvement and many survive into late childhood or adulthood.

Type C and D are also caused by excess deposition of sphingomyelin, as patients do not properly transport sphingomyelin and that too results in its accumulation of sphingomyeline. This is the result of mutations in the NPC1 gene on chromosome 18 and NPC2 gene on chromosome 14.

However, it is Niemann-Pick Disease A and B types that have a higher incidence in Ashkenazi Jews, compared to the general population.

Symptoms
• Symptoms of Neimann-Pick Type A
• Symptoms of Neimann-Pick Type B

Symptoms of Neimann-Pick Type A
Symptoms and signs of Type A include: (vary from person to person)
   • Failure to thrive (gain weight or grow at expected rate)
   • Progressive deterioration of nervous system
   • Coordination and motor-skill difficulties that progressively worsen
   • Progressive spasticity
   • Abdominal distention within 3-6 months
   • Enlarged liver, and\or spleen
   • May also present with jaundice in infancy and progressive liver failure
   • Feeding difficulties
   • Blindness
   • A “ cherry red spot” in the eye, visible by special eye exam.

Symptoms of Niemann-Pick Type B
Neimann-Pick Type B is less severe and there is practically no neurological involvement. However, it does cause liver, spleen, lymph node, and bone marrow problems. Notable symptoms are abdominal distention and respiratory difficulties including repeated lung infections.

Incidence and Carriers
Disease Frequency: 1 in 40,000 for type A in the Jewish population
                                 1 in 250,000 for both types A & B in the general population
Carrier Frequency: One in 80 Ashkenazi Jews is a Type A carrier. Unknown for type B
though it is estimated to not be greater than any other race

Treatment
Currently there is no effective cure or treatment for type A, so therapy is basically supportive.

Some encouraging results have been seen with bone marrow transplantation for Type B Niemann Pick Disease.

Mount Sinai Hospital in New York in conjunction with Genzyme Corporation is working on new treatment modes for Type B Niemann-Pick Disease. They will be focusing on Enzyme Replacement Therapy and Gene Therapy.

Testing

Diagnosis is achieved by testing blood, and measuring the ASM activity in the white blood cells. This test is effective in identifying persons with Niemann-PIck Type A and B disease, However it has been found unreliable in detecting persons who are carriers of Niemann-Pick

Carrier screening test – blood test to determine presence of SMPD1 gene mutation in Nieman-Pick Type A &B

Prenatal diagnosis for Niemann-Pick utilizing CVS (Chorionic Villus Sampling) or Amniocentesis

Laboratories and Screening
The following laboratories offer genetic testing for Canavan Disease:
   • United States
   • Israel
   • Canada
   • India
   • Europe

UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free: (866) 262-7943
Phone: (949) 900-5500
Fax: (949) 900-5501

ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email: clientservices@aruplab.com

Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu

Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092

Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)

Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658

Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu

GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100
Fax: (301) 519-2892

Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Phone: (508) 898-9001
Fax: (508) 389-5549
Toll Free: (800) 255-7357
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Tel: (800) 848-4436

Hartford Hospital
Clinical Lab Partners/Molecular Genetics and Cytogenetics
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733

LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542

Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email: rochelle.pakier@mssm.edu

New Jersey Medical School
Institute of Genomic Medicine
University Hospital
Director: James J Dermody, PhD, FACMG
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795

PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Web: http://www.preventiongenetics.com

Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874

Thomas Jefferson University
Lysosomal Diseases Testing Laboratory
Philadelphia, PA
Phone: (215) 955-1666
Fax: (215) 955-9554
Email: david.wenger@jefferson.edu

UCLA Diagnostic Molecular Pathology Laboratory
11633 San Vicente Blvd.,
Los Angeles, CA 90049
Phone: (310) 794-2781
Fax: (310) 794-2765

UC – San Diego Medical Genetics
University of California San Diego
Division of Medical Genetics (MC 0639)
9500 Gilman Dr.
La Jolla, CA 92093-0639
Phone: (858) 534-3093
Fax: (858) 534-0269
Email: tcahill@ucsd.edu

The Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141
Phone: (215) 456-8722
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic Diseases
Floating Hospital for Children at Tufts Medical Center
800 Washington Street, Box 340
Boston, MA 02111
Phone: (617) 636-7721
Web: www.tuftsnemc.org/OurServices/SpecialServicesandCenters/JewishGeneticDiseasesScreening

Victor Center for Jewish Genetic Diseases at
University of Miami Miller School of Medicine
Address: Clinical Research Building
1120 NW 14th Street - 8th Floor
Miami, FL 33136
Phone: (305) 243-4524
Deborah Zimbalist Wasserman, M.S.
Genetic Counselor/Coordinator
Cellular: (786) 897-9587
Email: DWasserman@med.miami.edu

ISRAEL
The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb
Haifa, Israel 33394
Phone: (+972)-4-835-9851
Phone: (+972)-4-835-9495
Web: http://www.b-zion.org.il

Carmel Medical Center
Molecular Genetics Laboratory
Michal Street
Haifa, Israel 34362
Phone: (+972) 4-8250407

GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il

Hadassah Hospital Hadassah Ein Karem
Human Molecular Genetic Laboratory
Dr. Israela (Issy) Lerer (Director)
POB 12000
Jerusalem 91120, Israel
Phone: (+972) 2- 677-6016
Fax : (+972) 2- 677-7499
Web: http://www.hadassah.org.il

Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101, Israel
Phone: (+972) 4-649-5416
Email: morad_kh@clalit.org.il

Kaplan medical center, Molecular Genetics Laboratory
Rehovot, Israel
Phone: (+972) 8-944-1534
Web: http://www.clalit.org.il/kaplan

Meir Medical Center
Molecular Genetics Laboratory
Kfar Saba, Israel
Phone: (+972) 9-747-1059
Web: http://www.clalit.org.il/meir/Content/Content.asp

Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22
Rosh Haayin, 48056, Israel
Phone: (+972)-3-915-5330
Fax: (+972)-3-915-5331
Web: https://www.meuhedet.co.il

Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email: info@prontodiagnostics.com

Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il

Rambam Medical Center
Molecular Genetics Laboratory
PO Box 9602
Haifa 31096 Israel
Phone: (+972) 4-854-2456

Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer
Ramat Gan . 52621, Israel
Phone: (+972) 3-530-3060
Web: http://www.eng.sheba.co.il

Soroka University Medical Center
Genetics Laboratories
Beer-Sheva, Israel
Phone: (+972)- 8-6400258
Web: http://www.clalit.org.il/soroka/Content/Content.asp?CID=43&u=420

Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Web: http://www.tasmc.org.il

Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel

Resources and More
More Resources
National Neiman-Pick Disease Foundation, Inc.
3734 East Olive Avenue
Gilbert, AZ 85234
Phone: (602) 497-6638
Web: http://www.nnpdf.org

Climb (Children Living with Inherited Metabolic Diseases)
Family Services
Toll Free): (+44) 800 652 3181 (open 10am – 4pm BST)
Phone: (+44) 845-241-2172
Email: fam.svcs@climb.org.uk

The International Center for Types A and B Niemann-Pick Disease
Department of Genetics and Genomic Sciences
Mount Sinai School of Medicine
1425 Madison Avenue
New York, New York 10029
Dana Doheny, M.S., C.G.C.
Phone: (212) 659-6779

National Tay-Sachs & Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
Phone: (800) 906-8723
Fax: (617) 277-0134

Making Sense of Your Genes- Guide to Genetic Counseling
Web: http://www.nsgc.org/Portals/0/GuidetoGeneticCounseling.pdf

Support Groups
National Neiman-Pick Disease Foundation, Inc.
3734 East Olive Avenue
Gilbert, AZ 85234
Phone: (602) 497-6638
Web: http://www.nnpdf.org

Yahoo Groups Niemann-Pick Type B
Website: http://health.groups.yahoo.com/group/typeb-nnpdf
A mailing list for persons with Niemann-Pick Type B, their family, and their friends.
A support service of the National Niemann-Pick Disease Foundation.

Yahoo Groups for Brothers and Sisters of Individual with Niemann-Pick
Web: http://health.groups.yahoo.com/group/nnpdf-sibs
A mailing list for brothers and sisters of people with Niemann-Pick disease.
The list allows siblings to share their experiences and feelings with each other.
A support service of the National Niemann-Pick Disease Foundation.

The International Center for Types A and B Niemann-Pick Disease
Department of Genetics and Genomic Sciences
Mount Sinai School of Medicine
1425 Madison Avenue
New York, New York 10029
Dana Doheny, M.S., C.G.C.
Phone: (212) 659-6779

Madisons Foundation
P.O. Box 241956
Los Angeles, CA 90024
Phone: (310) 264-0826
Fax: (310) 264-4766
Email: getinfo@madisonsfoundation.org