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Understanding the Scope – Q4 2024

DOR YESHORIM, BY THE NUMBERS

In the past three months: October-December 2024

  • 13,031 individuals were screened for pre-marital genetic testing.
  • 12,309 potential couples (24,618 individuals) called the hotline to request a
    compatibility check.
  • 159 compatibility requests resulted in ‘incompatible’, and genetic counseling was
    offered to those individuals and their families (see chart below).
  • 531 specialized tests were administered for families with rare genetic diseases.
  • 112 new families suffering from yet-to-be-identified genetic diseases reached out to Dor
    Yeshorim for assistance. Dor Yeshorim is working to meet their needs.

The 159 incompatible results saved families from the following genetic diseases:

Standard Panel
Bardet-Biedl Syndrome Type 2 1
Bloom Syndrome 1
Canavan Disease 7
Congenital Heart Diseases (GDF1) 3
Cystic Fibrosis 23
Dihydrolipoamide Dehydrogenase Deficiency 2
Familial Dysautonomia 14
Fanconi Anemia Type C 1
Familial Hyperinsulinemia 3
Hypomyelinating Leukodystrophy 12 1
Joubert Syndrome 1
Hypomyelinating Leukodystrophy 13 1
Mucolipidosis IV 1
Nemaline Myopathy Type 2 1
Niemann Pick Disease Type A&B 2
Pontocerebellar Hypoplasia Type 1A 1
Polycystic Kidney Disease 1
Smith Lemli Opitz Syndrome 3
Spinal Muscular Atrophy 3
Tay Sachs Disease 19
Vici Syndrome 1
Walker Warburg Syndrome 1
Warsaw Breakage Syndrome 4
Hearing Loss Panel
Autosomal Recessive Deafness 1B – Connexin 26 21
Hearing Loss MPZL2 1
Hearing Loss MYO15A 1
Hearing Loss SPATA5L1 3
Hearing loss STRC 3
Specialized Testing*
Albinism (OCA1) 1
Albinism (OCA2) 1
Amegakaryocytic Thrombocytopenia (CAMT) 2
Cerebellar Ataxia And Developmental Delay 2
Congenital Diarrheal Neonatal 2
Congenital Stationary Night Blindness 1
Primary CoQ10 Deficiencies 1
Dyskeratosis Congenita 5 1
Fowler Syndrome 1
Galactosemia 1
Gaucher Disease 3
Glaucoma 1
Hereditary Sensory and Autonomic Neuropathy Type IX 1
Associated Intellectual Disability Syndrome  (SGSM3) 1
Leigh Syndrome 1 2
3-Methylglutaconic Aciduria, Type VIII 1
Cobalamin C Deficiency 2
Retinitis Pigmentosa 28 2
Rothmund-Thomson Syndrome 1
Tyrosinemia Type 1 1
Wilson Disease 3
Wolfram Syndrome 1 4
Total 159

* 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:
130 incompatible matches for debilitating diseases = 260 individuals

That translates into 130 men and 130 women will Be”h not face the heartache of children born
with recessive debilitating genetic diseases.

29 incompatibles for Hearing Loss = 58 individuals
This translates into 29 men and 29 women being informed that they face the possibility of
children born with hearing loss.

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