Clinical Whole Genome Sequencing Sheds Light on Novel Metabolic Pathways in the Brain

Event Details

Type

Friday Lecture Series

Speaker(s)

Anna Wedell, M.D., Ph.D., head, Center for Inherited Metabolic Diseases; professor, department of molecular medicine and surgery, Science for Life Laboratory, Karolinska Institutet

Speaker bio(s)

Rare diseases provide unique possibilities to clarify basic biological principles essential for normal physiology and disease. Anna Wedell is interested in inborn errors of metabolism, particularly those affecting the brain, and uses patient-derived cells, Drosophila, and mouse models to explore disease mechanisms, with the long-term aim of identifying biomarkers and novel treatments for patients with metabolic dysfunction of the brain.
In her Nicholson Lecture, Wedell will discuss results from clinical whole genome sequencing. She has discovered that a deficiency of the mitochondrial aspartate-glutamate carrier AGC1 impairs myelin synthesis. Based on this mechanism, a ketogenic diet designed to restrict carbohydrates was found to restore myelination and reverse clinical effects. She has also made discoveries related to disorders of methionine metabolism and neonatal epilepsy.
Wedell received her M.D. in 1988 and her Ph.D. in medical genetics in 1994 at Karolinska Institutet. In 2006, she became board certified in clinical genetics after training at the Karolinska University Hospital. The Centre for Inherited Metabolic Diseases at Karolinska, which she leads, conducts laboratory investigations on inborn errors of metabolism and provides clinical expertise. Wedell served as scientific director of the Science for Life Laboratory, a molecular biosciences center, from 2010 to 2013.
She is currently chair of the Nobel Committee for Physiology or Medicine and is a member of the Royal Swedish Academy of Sciences.

Open to

Public

Reception

Refreshments, 3:15 p.m. - 3:45 p.m., Abby Lounge

Contact

Justin Sloboda

Phone

(212) 327-7785

Sponsor

Justin Sloboda
(212) 327-7785
jsloboda@rockefeller.edu

Readings

http://librarynews.rockefeller.edu/?p=5743