Jaenisch Lab

Whitehead Institute researchers have determined that the lipid storage disorder Niemann-Pick type C1 (NPC1) disease is caused not only by defects in cholesterol processing but also in autophagy—a key cellular degradation pathway that malfunctions in many neurodegenerative diseases.

A team of researchers from Whitehead Institute and Sanford-Burnham Research Institute has brought new clarity to the picture of how gene-environmental interactions can kill nerve cells that make dopamine. The study uses patient-derived stem cells to show that a mutation in the α-synuclein gene causes increased vulnerability to pesticides, leading to Parkinson’s disease.

Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95% of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway.

A new study from a team of Whitehead and MIT researchers reveals a gene that is critical to the process of memory extinction. Enhancing the activity of this gene, known as Tet1, might benefit people with posttraumatic stress disorder (PTSD) by making it easier to replace fearful memories with more positive associations.

Whitehead Institute researchers have used the gene regulation system CRISPR/Cas (for “clustered regularly interspaced short palindromic repeat/CRISPR-associated) to engineer mouse genomes containing reporter and conditional alleles in one step. Animals containing such sophisticated engineered alleles can now be made in a matter of weeks rather than years and could be used to model diseases and study gene function.

The Franklin Institute of Philadelphia today named Whitehead Institute Founding Member Rudolf Jaenisch one of eight 2013 Laureates—esteemed individuals honored for their pioneering achievements in science, technology, and business leadership.

Three Members of the Whitehead Institute faculty are poised to play significant roles in the establishment of a new stem cell research center based at Skolkovo Institute of Science and Technology (Skolkovo Tech) in suburban Moscow.