True to our mission, we fund research that will bring us closer to developing treatments and a cure for this disease. We work closely with our scientific advisory board to determine which research proposals to fund and we remain in close contact with our researchers to understand the work in progress. We believe strongly in collaboration and seek opportunities for this whenever possible.

Slaugenhaupt Lab, Harvard/MGH

Susan A. Slaugenhaupt, Ph.D., Yulia Grishchuk, Ph.D

This lab has been working on MLIV disease for nearly two decades. Slaugenhaupt identified the gene responsible for the disease, created the carrier test, and created the first MLIV mouse model.

Having established a base for understanding the neurology of the disease, they are now in the process of 1) identifying neurological pathways for treating the disease and 2) establishing the accuracy of these treatments in the MLIV models of the disease while moving ahead to testing drug and gene therapies.

Einstein College of Medicine

Steven U. Walkley, Ph.D., DVM

The Walkley lab focuses on what happens to different kinds of neurons in the central nervous system when they lack the presence of mucolipin-1, the protein missing in MLIV.  As the Walkley group is documenting the specifics of neuron abnormalities, and as they are showing pathologies in the ways that the lysosome itself is structured in MLIV cells, they are devising therapies that can help slow the progression of the disease and treat MLIV.

The Weizmann Institute, Israel

Dr. Anthony Futerman, Ph.D.

Dr. Futerman utilizes RNAseq studies of MLIV tissue samples to discern the most fundamental information from the genomic and proteomic data about the disease. This information illuminates pathways for treatment in MLIV tissue, and also allows him to determine in which ways MLIV is like other neurodegenerative diseases such as Parkinson’s. These disease connections aid in treatment options, research collaboration, and basic understanding of neurological diseases.

University of Munich

Christian Grimm, Ph.D.

Dr. Grimm searches for small molecules that can improve the function of the TRPML1 channel that is defective in MLIV patients. The TRPML1 channel is the means by which lysosomal waste is transported out of the normal cell. Because of the defective gene in MLIV disease, this channel doesn’t work and wastes remain in cells, causing devastation.  Dr. Grimm has located drugs that can improve this process, and he is testing them to determine which could be used in patients.  In addition, he continues to use high-throughput screens to find other drugs that may be useful.

Telethon Institute de Genetics and Medicine, Italy

Dr. Diego Medina, Ph.D.

Dr. Medina’s lab uses sophisticated high-throughput screening (HTS) to explore whole drug libraries swiftly and efficiently. His screens seek compounds that make MLIV cells more efficient.

University of Texas, Houston

Dr. Kartik Venkatachalam, Ph.D.

Dr. Venkatachalam studies the synapses and proteins that control the central nervous system. By understanding how stress affects their growth, Venkatachalam documents ways to intervene in and improve synaptic function with certain drugs that improve CNS function overall.  This project has been funded by the NIH.

Massachusetts General Hospital, Boston

Florian Eichler, M.D.

Massachusetts General Hospital, Boston

Albert Misko, M.D.

Tel HaShomer, Sheba Medical Center, Israel

Annick Raas-Rothschild, M.D.

This team of neurologists, located at prestigious hospitals in the United States and Israel, is led by Florian Eichler, Director of the Center for Rare Neurological Disease at MGH.  This Clinical Research Network shares a research protocol (IRB) whereby patients with MLIV can be studied at any one site and all data is shared at a central location, available to all researchers working on MLIV disease.  The importance of these clinical studies cannot be overstated: without rigorous clinical studies of patients with MLIV disease, including MRI brain imaging, retinal scans, collection of cerebrospinal fluid, and other data, MLIV scientists could develop a perfect treatment for MLIV and the FDA would not approve it for use in patients.

National Human Genome Research Institute, NIH

Charles Venditti, Ph.D.

Dr. Venditti has created an MLIV gene vector that is being tested in-vivo in Dr. Walkley’s lab through two methods of administration. We look forward to expression and follow-on efficacy data.

Massachusetts Eye and Ear Infirmary

Luk Vandenberghe, Ph.D.

Dr. Vandenberghe has created several AAV-based vectors which are being tested in-vivo in Dr. Grishchuk’s lab. After exciting expression data from these vectors, we are now testing these vectors for efficacy to determine how beneficial they are in correcting and altering the disease state in MLIV mice.

These individuals (each working in his own lab on distinct projects, but collaboratively sharing information for the benefit of MLIV research) have expertise in designing and creating vectors and associated packages that comprise complete gene therapies.

Perlara PBC

Perlara PBC, a Bay Area biotech led by Dr. Ethan Perlstein and funded in part by Novartis Pharmaceuticals Inc, uses a platform of genetically engineered organisms (yeast, nematodes, fruit flies and zebrafish) in phenotypic screens to identify orphan drug candidates that could reverse disease. Perlara utilizes simple organisms for drug screening, enabling them to maximize read-out efficiency and minimize costs. In 2016, Perlara PBC acquired MLIV yeast, nematode, and fruit fly models from top ML4 Foundation-funded laboratories to begin the process of screening for MLIV drug compounds.