Windows of Hope Research

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The development of new genetic technologies during the past few decades has enabled the identification of many genes that can cause inherited disease. Identifying genes that cause inherited disease is important because it allows accurate genetic tests to be offered. Genetic testing has many uses and is most commonly used to:

  • identify at-risk gene carriers of a genetic disorder,
  • screen newborns to determine if they have inherited a genetic condition that may affect their development,
  • provide confirmation of a suspected diagnosis, and
  • determine if a married couple may both carry a gene that may affect their children if inherited in ‘double dose’.

Identifying disease genes is also important as it provides a better understanding of the cellular and biochemical abnormalities in patients with these conditions, which may in turn aid the development of new treatments.

The Windows of Hope team has formed a close partnership with the Amish to investigate the genetic causes of inherited conditions present in the community. Our work is supported by local family doctors, as well as clinicians and researchers at leading institutions both in the US and worldwide. These partnerships have proven extremely fruitful and have enabled us to discover the genetic causes of a number of new inherited conditions present in the community. Although some of these conditions have only been found within the Amish community, many others occur elsewhere and so our discoveries are proving of benefit to other families and researchers around the world. Some examples of Windows of Hope’s discoveries are provided below.

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Windows of Hope is committed to underpinning and aiding diagnostics and medical care in the community however we can. We use cutting-edge technologies to investigate and address childhood as well as adult disability and illness, and provide the foundation for CLIA-certified diagnostic testing for disorders which occur within the community. As our work is funded by leading medical charities both in the US and overseas, and not by the community itself, our work provides substantial cost savings for individual families as well as the wider community.

 

Windows of Hope's genetic discoveries

 

 

DISORDER

GENE INVOLVED

FURTHER INFORMATION

 

 

 

Genecard

PUBMED

 

Movement disorders

 

 

 

 

1

Troyer syndrome

SPG20

1

1, 2, 3

 

2

Mast syndrome (SPG21)

SPG21

1

1

 

3

Complicated HSP (SPG26)

 

 

 

 

4

Spastic ataxia

mtPAP

1

1

 

 

 

 

 

 

 

 

Developmental Delay

 

 

 

 

5

GM3 synthase disease

GM3 synthase

1

1

 

6

Blue eye delay

HERC2

 

1

 

7

Hershberger syndrome

 

 

 

 

8

Developmental delay, seizures

 

 

 

 

9

Developmental delay

 

 

 

 

 

 

 

 

 

 

 

Inherited hearing loss

 

 

 

 

11

Deafness with myopia

SLITRK6

1

1

 

12

Deafness with delay

 

 

 

 

13

Deafness with birth defects

 

 

 

 

 

 

 

 

 

 

 

Other conditions

 

 

 

 

14

Hypertrophic cardiomyopathy

MYBPC3

1

1

 

15

Polycystic kidney disease

NPHP3

1

1

 

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