Dr. Bernard A. Lublin has prepared two brochures which are available at the
Jewish Family & Community Services office, located at 5025 Castello Drive, Naples.
"Breast/Ovarian Cancer and Jewish Inheritance"
&
"Medical Disorders of Disproportionate Jewish Inheritance"
For referrals to local oncologists & specialists, please call
Jewish Family & Community Services at 239-325-4444.
For a local Genetic Counselor,
scroll down this page for contact information.
The following information has been provided to the Federation by Dr. Lublin:
Click here for a 22-page PDF booklet - Jewish Genetics & Breast/Ovarian Cancer
MEDICAL DISORDERS OF DISPROPORTIONATE JEWISH INHERITANCE
Carrier Frequency > 1:100
DISORDER
ASHKENAZI CARRIER FREQUENCY
ASHKENAZI DISEASE FREQUENCY
SYMPTOMS
TREATMENT
TESTING
AVAILABLE
Canavan’s
1 / 50
1 / 6,500
Weak, spastic,
Blind, seizures
Death
Genetic Screening
Amniocentesis
Crohn’s
7.2 / 100,000 for men
1 / 100,000 for women
Bloody diarrhea, Abdominal pain
Strict diet
Medications
Surgery (60%)
Cystic Fibrosis
1 / 25
1 /3,000
Wheezing,
Thick phlegm,
Foul-smelling stools,
Death
Pulmonary care
Treat infections
Genetic Screening
Amniocentesis
PGD
Familial Dysautonomia
1 / 30
1 / 3,600 births
Aspiration of food,
“No” sense of pain, hot, cold,
Sharp rise in BP, heart rate,
Death
Medical
Surgical
Diagnostic:
Histamine Test
Methacholine Test
Gaucher’s
Type I
1 / 20
1 / 1,000 births
Fatigue,
Infections,
Bone Pain
IV Ceredase
$100,000. –
$400,000.
Per year
Genetic Screening
Amniocentesis
PGD
Tay-Sachs
1 / 25
1 / 3,600 births
Weakness, Seizures,
Death
Genetic Screening
Amniocentesis
PGD
Ulcerative Colitis
9.3 / 100,000 for men
16.9 / 100,000
for women
Bloody diarrhea,
Abdominal pain
Strict diet
Medications
Surgery (30%)
PGD = Preimplantation Genetic Diagnosis
Less common disorders for which testing is available include Bloom Syndrome, Fanconi Anemia,
Glycogen Storage Disease, Maple Syrup Urine Disease, Mucolipidosis Type IV, and
Niemann-Pick Disease.
Courtesy of Jewish Genetic Foundation
Local Genetic Counselor:
Mary Ann Orlang, RN,MSN,AOCNS Clinical Nurse Specialist/Genetic Counselor, Oncology
maryann.orlang@leememorial.org
Regional Cancer Center
8931 Colonial Center Drive, Suite 302
Fort Myers, FL 33905
239-343-9512
Fax: 239-343-9561
Medical Information
Chicago Center for Jewish Genetic Disorders
www.jewishgeneticscenter.org/what/
Jewish Genetic Disease Consortium
www.jewishgeneticdiseases.org/indexsc.htm?tgt=content/about_jgdc.htm
Genetic Disease Foundation
www.geneticdiseasefoundation.org
Albert Einstein Medical Center, Philadelphia
www.einstein.edu/yourhealth/genetic/jewishgenetic/index.html
Wikipedia
www.en.wikipedia.org/wiki/Main_Page
Canavan Foundation
www.canavanfoundation.org (212) 873-4640
Cystic Fibrosis Foundation
http://www.cff.org/ (800) 344-4823
National Jewish Medical (for Cystic Fibrosis) (800) 222-5864
www.nationaljewish.org/disease-info/diseases/cystic-fibrosis/index.aspx
Familial Dysautonomia
www.familialdysautonomia.org (212) 279-1066
Gaucher Disease Type 1
www.gaucherdisese.org (800) 925-8885
Tay Sachs Diseases
www.ntsad-ny.org (888) 354-7788
Genetic Counseling
Informed Medical Decisions
www.informedmedicaldecisions.com/
Preimplantation Genetic Diagnosis
Reproductive Genetics Institute
www.reproductivegenetics.com/single_gene.html
Genesis Genetics Institute