Genetics

Diagnostic and genetic testing
Is it Gaucher or Niemann-Pick Disease?

Is it Gaucher or Niemann-Pick Disease?

Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions.

Morquio Syndrome Type A Overview

Morquio Syndrome Type A Overview

Barbara Burton, MD of Lurie Children’s Hospital of Chicago explains Morquio syndrome type A, a rare lysosomal storage disorder.

Sickle Cell Disease Explained

Sickle Cell Disease Explained

Farzana Sayani, MD, Assistant Professor of Medicine at the Hospital of the University of Pennsylvania explains the pathophysiology of sickle cell disease.

Farber Syndrome Explained

Farber Syndrome Explained

Dr. John Mitchell explains the pathophysiology, symptoms, and treatment options for Farber disease.

Using Social Media Data to Improve Drug Development

Using Social Media Data to Improve Drug Development

Maria Picone is the mother of a child with Prader-Willi syndrome as well as founder/CEO of TREND Community – a company that collects anecdotal information from patients and caregivers so that the information can be quantified and assessed more efficiently.

Rare Disease Families

Rare Disease Families

Dianne Linnehan, Director of Operations of the Phelan-McDermid Syndrome Foundation is also the parent of a person with Phelan-McDermid syndrome, and as she explains in this interview, her daughter provides her with immeasurable strength and joy, despite the rare disease that afflicts her.

RUSP and the ScreenPlus Panel

RUSP and the ScreenPlus Panel

Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about RSUP (Recommended Uniform Screening Panel).

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