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…

Franklin has collaborated on data-sharing initiatives with additional databases that provide variant-level information with phenotypic features, in order to improve the variant classification process and facilitate the discovery of novel disease-causing variants. Since the initial stages of genomic research, the field has prided itself on a robust culture of data…

Could NGS technologies replace cytogenetics as the gold standard for prenatal genetic diagnosis? …

The ability to identify genomic, transcriptional, proteomic, and epigenetic alterations in tumors has resulted in a better understanding of the progress and impact of different types of patient tumors, and the opportunity to tailor a more precise treatment for each patient. However, unlike interpretation of germline sequence variations, which focuses…

New standards for somatic variant classification have recently been developed by Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and the Variant Interpretation for Cancer Consortium (VICC) to help establish the oncogenicity of variants, bringing more clarity to the interpretation of cancer mutations. Why was there a need for more…