Tag Archives: #autosomalrecessive

Walker-Warburg Syndrome

walker-warbburg

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Walker-Warburg Syndrome is an Ashkenazi Jewish inherited diseases with a carrier frequency of (1 in 120) and affects (1 in 57,000 pregnancies).

Walker-Warburg Syndrome: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Walker-Warburg Syndrome can vary in severity but usually refers to a severe form of muscular dystrophy affecting the brain, eyes and muscles often being fatal in the first several weeks or months of life.

http://cortfoundation.org/cms/get-informed/associated-syndromes/walker-warburg-syndrome/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012  

Ashkenazi Jewish Genetic Diseases – Usher Syndrome Type 1 & 2

ashkenazi-usher

© 2016   

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Usher Syndrome Type 1 & 2 are Ashkenazi Jewish inherited diseases with a carrier frequency of (1 in 125 – Type 1) and

(1 in 70 – Type 2) and affects (1 in 62,000 pregnancies – Type 1) and (1 in 19,000 pregnancies – Type 2).

Usher Syndrome Type 1 & 2: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Usher Syndrome Type 1 is characterized by congenital deafness usually requiring a cochlear implant and decreased visual acuity in adolescence, and problems with balance. Retinitis pigmentosa (black pigmentation and degeneration of the retina) also develops.

Usher Syndrome Type 2 is similar to Usher Syndrome Type 1 but balance is preserved, is variable in severity and eye changes may not present until the teen years.

http://www.meganfoundation.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

Ashkenazi Jewish Genetic Diseases – Tay Sachs Disease

ashkenazi-tay-sachs

© 2016

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Tay Sachs Disease is a common Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 30) and affects (1 in 3600) pregnancies.

Tay Sachs Disease: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Tay Sachs Disease is a fatal metabolic blood disease usually detected by age 6. A few cases of adult onset Tay Sachs have been described.

http://www.curetay-sachs.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

Ashkenazi Jewish Genetic Diseases – Niemann Pick Disease Types A & B

ashkenazi-niemann-pick

© 2016  

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Niemann-Pick Disease Types A & B are Ashkenazi Jewish inherited diseases with a carrier frequency of (1 in 90) and affects (1 in 32,000) pregnancies.

Niemann-Pick Disease Types A & B: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Niemann-Pick Disease Type A is due to little or no production of the enzyme (acid sphingomyelinase) and is more severe than Type B.

  • Type A usually presents early in childhood and is often fatal by age 2-4 years.
  • Type A is characterized by early enlargement of the liver and spleen, swollen lymph nodes, difficulty feeding, decreased muscle tone, frequent lung infections and brain damage. 

Niemann-Pick Disease Type B is more variable in the production of the enzyme (acid sphingomyelinase).

  • Type B usually appears later in childhood, varies in severity and is characterized by enlarged liver and spleen, respiratory infections, slow growth and developmental delay.

http://www.nnpdf.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

Niemann-Pick Disease Types A & B

niemann-pick

© 2016   

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Niemann-Pick Disease Types A & B are Ashkenazi Jewish inherited diseases with a carrier frequency of (1 in 90) and affects (1 in 32,000) pregnancies.

Niemann-Pick Disease Types A & B: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Niemann-Pick Disease Type A is due to little or no production of the enzyme (acid sphingomyelinase) and is more severe than Type B.

  • Type A usually presents early in childhood and is often fatal by age 2-4 years.
  • Type A is characterized by early enlargement of the liver and spleen, swollen lymph nodes, difficulty feeding, decreased muscle tone, frequent lung infections and brain damage. 

Niemann-Pick Disease Type B is more variable in the production of the enzyme (acid sphingomyelinase).

  • Type B usually appears later in childhood, varies in severity and is characterized by enlarged liver and spleen, respiratory infections, slow growth and developmental delay.

http://www.nnpdf.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

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