虽然发现了一些以前与这些疾病无关的基因，但研究人员发现，已知基因可以解释80%以上由隐性遗传变异引起的病例。这比以前的估计数大大增加。该研究还揭示了隐性遗传变异对发育障碍的影响在研究的种族群体中差异很大。

研究小组认为，在过去几年中，发现与这些疾病相关的隐性基因的努力在很大程度上是成功的，现在的挑战更多地在于解释已知隐性基因的遗传变化。他们说，与只关注剩余基因的发现相比，使用这种方法可以潜在地用于诊断两倍多的患者。

Tay-Sachs Awareness Month serves as a reminder of the vital role genetic screening can play in preventing these heartbreaking ...

Researchers have carried out the most extensive and varied investigation to date regarding the role that recessive genetic ...

Study found that the contribution of recessive genetic variants to developmental disorders varies significantly across ethnic groups studied.

The largest and most diverse study on recessive genetic changes in developmental disorders reveals that over 80% of cases ...

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Tay-Sachs is caused by absence of the enzyme HexA, which causes excessive accumulation of specific lipids in the brain and nerve cells, resulting in progressive neurological damage.

For example, the enzyme-based assay for Tay Sachs requires that the blood drawn be handled under controlled conditions. Placing a blood sample for enzyme-based Tay Sachs testing in a metal box on ...

Freya was their miracle baby. But almost a year later, their joy turned to heartbreak when Freya was diagnosed with Tay-Sachs ...