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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. If you would like to discuss a research proposal with the ML4 Foundation, please contact us at info@ml4.org.
[/vc_column_text]This lab worked on MLIV disease for nearly two decades. Sue Slaugenhaupt pioneered MLIV research by identifying the gene responsible for the disease, creating the carrier test, and creating the first MLIV mouse model. She has remained a staunch advocate for MLIV research ever since.
Yulia Grishchuk paved new ground for MLIV research not only through full characterization of the MLIV mouse and identifying processes such as astrocytosis in MLIV, but by establishing the first gene therapy investigations in MLIV. Her proof of concept gene therapy research provides the foundation for larger scale gene therapy work. Grishchuk was a frequent and generous collaborator with other MLIV scientists, further expanding the field of study.[/bsf-info-box][/vc_column][/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”id^26852|url^https://ml4.org/wp-content/uploads/2024/10/Nagy150.png|caption^null|alt^null|title^Nagy150|description^null” img_width=”150″ title=”Massachusetts General Hospital” pos=”top”]Amanda Nagy, M.D.[/bsf-info-box][/vc_column][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”id^25990|url^https://ml4.org/wp-content/uploads/2022/09/musolino150.jpg|caption^null|alt^null|title^musolino150|description^null” img_width=”150″ title=”Massachusetts General Hospital” pos=”top”]Patricia Musolino, M.D., Ph.D.[/bsf-info-box][/vc_column][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”id^27089|url^https://ml4.org/wp-content/uploads/2025/03/Zerem150a.png|caption^null|alt^null|title^Zerem150a|description^null” img_width=”150″ title=”Tel Aviv Sourasky Medical Center, Ichilov (Israel)” pos=”top”]Ayelet Zerem, M.D.[/bsf-info-box][/vc_column][/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/1″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][vc_column_text]This team of neurologists, located at prestigious hospitals in the United States and Israel, is led by Dr. Musolino and Dr. Nagy and with support from Dr. Zerem. The ML4 Foundation has funded a 3-year prospective and retrospective natural history study based at MGH. This study enabled a better understand all facets of the disease, better identified the window for intervention, and targets for intervention. The importance of these clinical studies cannot be overstated: only through rigorous clinical studies of patients with MLIV disease can scientists develop the deep knowledge necessary for a treatment that the FDA will approve for use in patients.[/vc_column_text]
Dr. Medina’s has focussed on the role of TRPML1 (the defective protein in MLIV disease) and the kidney. In recent years, reports have described kidney disease and kidney failure in various MLIV patients in the second to the third decade of life. Medina has now shown the role that loss of TRPML1 plays in the kidney both in mouse models of the disease as well as in human samples. Dr. Medina is continuing his research to examine liver and thyroid tissue functioning to understand how TRPML1 loss may cause dysfunction in these critical systems, as well.[/bsf-info-box][/vc_column][/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/1″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”]
Previously Funded Research
[/vc_column_text]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.[/bsf-info-box][/vc_column][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”24921|https://ml4.org/wp-content/uploads/2015/05/icon_Futerman_150.png” img_width=”150″ title=”The Weizmann Institute (Israel)” pos=”top”]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.[/bsf-info-box][/vc_column][/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”24922|https://ml4.org/wp-content/uploads/2015/05/icon_Grimm_150.png” img_width=”150″ title=”University of Munich (Germany)” pos=”top”]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.[/bsf-info-box][/vc_column][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”id^25992|url^https://ml4.org/wp-content/uploads/2022/09/Vandenberghe150.jpg|caption^null|alt^null|title^Vandenberghe150|description^null” img_width=”150″ title=”Massachusetts Eye and Ear Infirmary” pos=”top”]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.[/bsf-info-box][/vc_column][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/3″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][bsf-info-box icon_type=”custom” icon_img=”24928|https://ml4.org/wp-content/uploads/2015/05/icon_Venkatachalam_150.png” img_width=”150″ title=”University of Texas, Houston” pos=”top”]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.[/bsf-info-box][/vc_column][/vc_row][vc_row type=”in_container” full_screen_row_position=”middle” scene_position=”center” text_color=”dark” text_align=”left” bottom_padding=”0″ overlay_strength=”0.3″ shape_divider_position=”bottom”][vc_column column_padding=”no-extra-padding” column_padding_position=”all” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_shadow=”none” column_border_radius=”none” width=”1/1″ tablet_text_alignment=”default” phone_text_alignment=”default” column_border_width=”none” column_border_style=”solid”][/vc_column][/vc_row]
