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.
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.
|Troyer syndrome (complicated HSP)||SPG20|
|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|
|Infantile cardiomypathy||MYBPC3||Heart (2008) 94(10):1326-30|
|Deafness with myopia||SLITRK6|
|Cleft lip/palate, cardiovascular disease||3p||In press|
Previously described diseases
|Previously described disease||Gene||Reference|
|Kidney disease (nephronophthisis)||NPHP3||Am J Kidney Dis. (2008) 53(5):790-5|