What is PDCD? Pyruvate Dehydrogenase Complex Deficiency (PDCD) is a rare disease associated with abnormal mitochondrial metabolism. …

What is XLHED? XLHED (X-linked hypohidrotic ectodermal dysplasia), previously known as Christ-Siemens-Touraine syndrome, is an exceedingly rare genetic disorder primarily affecting males. It is characterized by the abnormal development of ectodermal tissues, which include the skin, hair, teeth, and sweat glands. …

What’s AADC deficiency? The Orphan Drug Act, the iconic law designed to accelerate the development of therapies for rare disorders, defined in 1983 that a condition should be classified as a rare disease if it affects less than 200,000 patients in the United States (approximately 620 patients per million of population). Recently, the…

What is Timothy Syndrome? Timothy Syndrome (TS) is an ultra-rare genetic disorder that affects multiple organs and systems in the body. It is characterized by cardiac arrhythmias, webbing of fingers and toes (syndactyly), developmental delays, intellectual disability, and features of autism spectrum disorder. Timothy syndrome often manifests during the neonatal…

What is Rett syndrome? Rett syndrome (RTT) is a rare neurodevelopmental disorder that occurs almost exclusively in females. This X-linked genetic condition typically becomes apparent after 6–18 months of age and involves a slowing of development, distinctive hand movements, loss of speech, decelerated brain and head growth, gait anomalies, seizures…

What’s Inherited RTD? Autosomal recessive renal tubular dysgenesis (RTD), inherited RTD, or simply AR RTD, is an extremely rare disease affecting renal development before birth. This disorder, characterized by the absence or poor development of proximal tubules in the kidneys, is very severe and usually leads to perinatal death. While…

Ovarian Cancer (OC) is one of the most deadly types of cancer worldwide, with more than 20% of patients carrying hereditary cancer variants. What’s more, with the rise of PARP inhibitors, it is now usually required that patients undergo genetic testing in order to choose the appropriate treatment course. …

When Dr. Cortney Gensemer, a then-college student, was diagnosed with Ehlers-Danlos Syndrome (EDS), she had only one thought in mind: “OMG I’m not crazy, I have a chronic illness”. As a kid, Dr. Gensemer suffered from never-ending injuries that ended up in multiple orthopedic surgeries, but she always assumed they…

As a little girl growing up in Nagpur, India, Prof. Shubha Phadke dreamed of being a pediatrician. Many years later, on the same day she received an offer to fill a permanent position as a pediatrician, she also received an offer to enroll in a three-year program to become one…