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 research

Medical research has often been shown to provide important answers for difficult questions about the best way to deliver care for individuals with inherited disease.

Our research aims to determine the genetic causes and specific nature of inherited conditions which occur in Anabaptist communities in order to help local specialist clinics and family doctors provide diagnoses and care for their patients. Genetic diagnosis is important to provide effective treatment, prevent illness and offer accurate counselling to patients and families afflicted by these conditions.

Since 2000 we have defined and published the genetic basis of 13 new inherited conditions which are present amongst the community, and we are currently working on other new discoveries (see tables below). This information has helped provide new and accurate diagnoses, and guided treatment, for many hundreds of families.


Novel diseases

Novel DiseaseGeneReference
Troyer syndrome (complicated HSP) SPG20

Nat Genet (2002) 31:347-8

J Neurol (2004) 251(9):1105-10

Mast syndrome (complicated HSP) ACP33 AJHG (2003) 73(5):1147-56
GM2 synthase deficiency GM2 synthase Brain (2013), in press
GM3 synthase deficiency GM3 synthase Nat Genet (2003) 36(11):1225-9
Blue eye delay syndrome HERC2 JMG (2013) 50(2):65-73
PCNA DNA repair disorder PCNA JCI (2014) 124(7): 3137-3146
Nephrocerebellar syndrome 15q Brain (2015) epub
Spastic ataxia MTPAP AJHG (2010) 12;87(5):655-60
Megalencephaly and autism KPTN AJHG (2014),  94(1):87-94
Neurodevelopmental delay 1p Unpublished
Infantile cardiomypathy MYBPC3 Heart (2008) 94(10):1326-30
Deafness with myopia SLITRK6

JCI (2013) 1;123:2094-102

Cleft lip/palate, cardiovascular disease 3p In press


Previously described diseases

Previously described diseaseGeneReference
Kidney disease (nephronophthisis) NPHP3 Am J Kidney Dis. (2008) 53(5):790-5