Tay-Sachs disease is a devastating genetic disorder that profoundly affects individuals, families, and communities. Characterized by the progressive degeneratio

Spondyloepiphyseal Dysplasia is a complex and life-altering condition, presenting not only significant physical challenges but also emotional and psychological

Noonan syndrome is a complex genetic disorder that presents a unique set of challenges for individuals and their families. Characterized by distinctive physical

Phenylketonuria (PKU) is a rare but impactful metabolic condition that profoundly affects those diagnosed, as well as their families and support systems. Living

Menkes disease, a rare genetic disorder affecting copper levels in the body, presents complex and lifelong challenges for those diagnosed and their families. Of