Photography, Thursday all day.
What is Sturge-Weber Syndrome?
Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with Sturge-Weber can include eye, endocrine and organ irregularities, as well as developmental disabilities. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees.
1st Year Medical Student Orientation + FRAME Workshop.
Photography and Presentation: Saturday June 29
DoubleTree by Hilton Hotel Bethesda – Washington DC
What is Smith-Lemli-Opitz syndrome (SLOS)?
SLOS is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to make enough cholesterol to support normal growth and development.
POSITIVE EXPOSURE Photography, workshop and presentation!
Family Conference @ Boston Children’s Hospital
CLOVES Syndrome stands for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis. CLOVES is caused by a somatic genetic mutation in a gene called PIK3CA that increases the activity of the gene. CLOVES belongs to a category of diseases known as PIK3CA-overgrowth spectrum or PROS.
May 27 -29
POSITIVE EXPOSURE in Australia.
Presenting to Genetic Counselors at the Royal Melbourne Hospital.
Undergrads at the University of Melbourne in collaboration with Dr. Ingrid Winship
Photography with individuals living with Epidermolysis Bullosa and HHT ( Hereditary hemorrhagic telangiectastic)