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Understanding the Scope: Q3 2024

DOR YESHORIM BY THE NUMBERS

In the past three months: July – September 2024

  • 4,832 individuals were screened for pre-marital genetic testing.
    (Note: There are fewer mass school screenings during the summer months.)
  • 12,488 potential couples (24,976 individuals) called the hotline to request a
    compatibility check.
  • 184 compatibility requests resulted in ‘incompatible’, and genetic counseling was
    offered to those individuals and their families (see chart below).
  • 497 specialized tests were administered for families with rare genetic diseases.
  • 83 new families suffering with yet-to-be-identified genetic diseases reached out to Dor
    Yeshorim for assistance. Dor Yeshorim is working to meet their needs.

 

The 184 incompatible results saved families from the following genetic diseases:

 

Standard Panel
ACHROMATOPSIA 3
BARDET-BIEDL SYNDROME TYPE 2 3
BLOOM SYNDROME 2
CANAVAN DISEASE 8
CONGENITAL ADRENAL HYPERPLASIA (CYP11B1) 1
CONGENITAL CARDIOVASCULAR MALFORMATIONS 5
CYSTIC FIBROSIS 17
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY 5
FAMILIAL DYSAUTONOMIA 11
FANCONI ANEMIA TYPE C 1
GLYCOGEN STORAGE DISEASE 1
HYPERINSULINISM 4
HYPOMYELINATION LEUKODYSTROPHY 2
JOUBERT SYNDROME 2
MAPLE SYRUP URINE 1
MICROCEPHALY 1
MUCOLIPIDOSIS TYPE 4 1
NEMALINE MYOPATHY 2
NIEMANN PICK 1
POLYCYSTIC KIDNEY DISEASE 1
SMITH LEMLI OPITZ SYNDROME 5
SPINAL MUSCULAR ATROPHY 4
TAY SACHS DISEASE 14
USHER SYNDROME TYPE 1 1
VASCUOLAR PROTEIN SORTING 53 HOMOLOG 1
WALKER WARBURG SYNDROME 2
WARSAW BREAKAGE SYNDROME 9
Hearing Loss Panel
HEARING LOSS CONNEXIN 37
HEARING LOSS MPZL2 1
PENDRED SYNDROME 2
STEREOCILLIN 2
USHER SYNDROME TYPE 3 2
Specialized Testing*
AMEGAKARYOCYTIC THROMBOCYTOPENI 5
CARNITINE PALMITOYLTRANSFERASE 2 1
CONGENITAL STATIONARY NIGHT BLINDNESS 1
GAUCHER DISEASE 3
RETINITIS PIGMENTOSA 62 1
MULTIPLE SULFATASE DEFICIENCY 1
RETINITIS PIGMENTOSA 59 (DHDDS) 3
SENIOR LOKEN SYNDROME 1
WILSON’S DISEASE 7
WOLLFRAM SYNDROME 1 7
ZELLWEGER SYNDROME (PEROXISOME BIOGENESIS A5) 2
Total 184

* These tests are not yet included in the standard testing panel. They were requested by families currently suffering from the aforementioned diseases to assist with shidduchim and prevent the birth of children with these diseases.

Further funding will allow the standard testing panel to include more of these debilitating diseases.

Statistically Speaking:
140 incompatible matches for debilitating diseases = 280 individuals

That translates into 140 men and 140 women will Be”h not face the heartache of children born
with recessive debilitating genetic diseases.

44 incompatibles for Hearing Loss = 88 individuals
This translates into 44 men and 44 women being informed that they face the possibility of
children born with hearing loss.

 

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