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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 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:
Cindy Merrill
Regional Cancer Center
8931 Colonial Center Dr., #200
Ft. Myers, FL 33905
(239) 343-9512
cindy.merrill@leememorial.org

                                 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

     www.genesisgenetics.org/