Patient Testimonials

Without hesitation this incredible organization got to work on KIF1A. We couldn't have accomplished this without their generous support. These scientists make a difference in our lives and in the lives of every family affected by rare disease. Thank you JAX.

Luke Rosen,

We are tremendously excited about the publicly available GM1 mouse models. This is absolutely a pivotal project and eases drug development for researchers. We are honored to be in a partnership with Jax and we believe in the incredible value of the work and the repository.

Christine Waggoner, Cure GM1 Foundation

Jackson Labs’ willingness to generate a KO AP4B1 mouse model for our non-profit organization was a hugely important milestone in our efforts to develop and test a gene therapy for SPG47.

Chris Edwards, Cure AP-4

The team at JAX lab have been amazing. Since day one they have been there for our organization and willing to help. Without the Mice being built at JAX labs there is no way our organization could ever go to clinical trial.

Terry Pirovol, Cure SPG50

The mission of the Simons Foundation Autism Research Initiative (SFARI) is to improve the understanding, diagnosis and treatment of autism spectrum disorders (ASD) by funding innovative research of the highest quality and relevance…

Since beginning our partnership with the Jackson Laboratory Rare and Orphan Disease Center, more than 700 mice from 10 different mutant lines have been distributed to researchers, and we expect these numbers to continue to grow. Results from studies of these mice are beginning to identify common changes in early brain development and in particular neural circuits that may eventually become targets for intervention. Without this partnership, progress would undoubtedly be slowed by difficulties in accessing particular lines of mice.

Alan Packer, SFARI and Simon Foundation

The generation of a Snyder-Robinson Syndrome (SRS) knock out mouse has energized our foundation and given us hope that we will achieve our goal of developing a treatment for our loved ones…

The Jackson Labs has generated two SRS mouse models which are now available for study – something that we could never have done without their help. We hope to soon begin testing compounds in these models that may provide a treatment to SRS patients.

Michael Raymond, Snyder Robinson Foundation

We have worked with the Jackson Laboratory Rare and Orphan Disease Center to develop a better rodent model for MTFMT gene mutation that causes Leigh Syndrome, a rare genetic disorder that affects mitochondria function…

Thanks for the immense committed support form Jax scientists, specially Dr. Lutz and Dr. Zuberi, who made this possible for our lab and for our center for are childhood disorders (C4CRD). The development of a model system has motivated us to make progress in understanding the biology of the genetic mutation and the development of new therapies for the patients.

Sampath Rangasamy, TGEn

The first mouse model for Rett Syndrome were published in 2001 and became available through Jackson shortly after. For a long while this model was amongst the most ordered model from Jackson. Over the years it has been ordered by hundreds of labs around the world and has played a critical role in elucidating the molecular underpinnings of the disorder. Since then there have been many mouse models of Rett made with specific mutations as well as conditional models. This toolbox of mouse models is helping to catalyze the development of treatments and cures.

I will use my daughter, Chelsea, as an example. Chelsea was diagnosed at age 2in 1998 one year before the genetic cause of Rett was discovered. At the time she could get herself into a sitting position, “bunny-hop crawl) and stand holding on to someone or something but could not pull to stand, or walk independently. She had one word at age 1 but lost it within a few weeks never to utter another word again. Today at age 23 Chelsea is plagued by too many Rett symptoms to list. She is in a wheelchair, unable to speak or use her hands. She’s been battling intractable seizures since age 5. She is fed through a feeding tube. She loses control of her eyes and they float upwards repeatedly. This is heartbreaking as the only thing she could control were her eyes. She has very high tone which causes her pain. However Chelsea is so much more than a laundry list of symptoms. She is brave, affectionate, patient and has an amazing sense of humor. She is my motivation and my inspiration.

Monica Coenraads, Rett Syndrome Research Trust