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  • Neil Aronin

    Neil Aronin, MD

    Academic Role: Professor of medicine and RNA therapeutics|Higgins Family Professor of Neuroscience

    Rare Disease: Huntington’s disease

    Our lab research focuses on the molecular therapeutics for Huntington’s disease. We use three approaches for molecular therapy: siRNA infusion into the cerebrospinal fluid, AAV-miRNA injection directly into the neo-striatum (brain region affected initially by the disease), and gene editing by CRISPR/Cas9.

  • Eric Baehrecke

    Eric Baehrecke, PhD

    Academic Role: Professor of molecular, cell & cancer biology

    Rare Disease: Ataxia, Dystonia

    Our lab studies the regulation and function of autophagy (self-eating) in the context of normal animal development and in models of disease. Defects in autophagy have been associated with a wide variety of human disorders, including rare diseases. Modulation of autophagy is being considered for a wide variety of disease therapies.

  • Daryl Bosco

    Daryl Bosco, PhD

    Academic Role: Associate professor of neurology

    Rare Disease: Amyotrophic lateral sclerosis (ALS)

    My lab uses a multidisciplinary approach involving biochemistry, cell biology (including iPS cell technology), biophysics and in vivo model systems for investigating the pathogenic mechanisms underlying ALS. We study the effects of ALS-mutations on protein shape and conformation, and try to understand how these changes convert a normal protein into a toxic species. We also aim to correct or neutralize the toxic protein shape using small molecules and biologics. Our lab is also interested in the role of stress in neurodegenerative disease pathogenesis. We are developing new and innovative methods for studying the effects of stress in vivo, in order to understand how stress contributes to disease onset and progression.

  • Michael Brodsky

    Michael Brodsky, PhD

    Academic Role: Assistant professor of molecular, cell & cancer biology

    Rare Disease: Cell death (Apoptosis), cell competition, compensatory proliferation in Drosophila

    The overall goal of the lab is to understand how animal cells coordinate cell proliferation and cell death during development. To approach this problem, we are studying the regulation of apoptosis and cell cycle arrest following DNA damage in the fruit fly Drosophila melanogaster.

  • Robert Brown

    Robert Brown, DPhil, MD

    Academic Role: Professor of neurology|Leo P. and Theresa M. LaChance Chair in Medical Research

    Rare Disease: Amyotrophic lateral sclerosis (ALS), Gene defects, Muscular dystrophy, Neuromuscular disease

    Dr. Brown's laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis. Knowledge of theses disease genes has facilitated the creation of mouse and cell-based models of these disorders. In turn, these resources have allowed study of therapeutic strategies using conventional small molecule approaches and new modalities such as inhibitory RNAi.

  • Sharon Cantor

    Sharon Cantor, PhD

    Academic Role: Associate professor of molecular, cell & cancer biology

    Rare Disease: Fanconi anemia (FA)

    Our lab discovered that the hereditary breast cancer gene BACH1 is mutated in the FA complementation group FANCJ and we now understand that loss of one BACH1/FANCJ allele predisposes to hereditary breast and ovarian cancer, whereas loss of both alleles causes FA. Understanding what is truly wrong with patient cells will be essential for establishing cures.

  • Lucio Castilla

    Lucio Castilla, PhD

    Academic Role: Professor of molecular, cell & cancer biology

    Rare Disease: Familial platelet disorder (FPD)

    Our lab studies mechanisms of hematopoietic stem cell differentiation, leukemia development and targeted therapies. FPD is marked by platelet dysfunction and bleeding, and predisposition to leukemia. We’re interested in utilizing genomic, genetic and pharmacologic approaches toward the goal of developing targeted therapies that may improve platelet function and survival.

  • Silvia Corvera

    Silvia Corvera, MD

    Academic Role: Professor of molecular medicine|Endowed Chair in Diabetes Research|Co-Director, MSTP (MD-PhD) program

    Rare Disease: Metabolic diseases, Type-2 diabetes

    Metabolic diseases, such as type-2 diabetes, non-alcoholic fatty liver disease (NASH), and hypertension are an emerging worldwide epidemic associated with substantial human suffering and a large economic burden. We are interested in understanding the cellular and molecular mechanisms that underlie metabolic diseases, and enable therapeutic strategies to be developed.

  • J. Kevin Donahue

    J. Kevin Donahue, MD

    Academic Role: Professor of medicine

    Rare Disease: Inherited arrhythmia syndromes

    My particular approach is gene therapy to treat inherited arrhythmias. A focus of my work has been to develop methods for whole heart gene delivery that will be necessary to treat these arrhythmias. I am interested in arrhythmias because they are the leading cause of death in developed countries and an important cause of symptoms and disability.  The treatments that we have for many arrhythmias are inadequate, and my work has focused on developing gene therapy that, if successful, would completely eliminate this disease.

  • Charles Emerson

    Charles Emerson, Jr., PhD

    Academic Role: Professor of neurology

    Rare Disease: Facioscapulohumeral dystrophy (FSHD), Muscular dystrophy

    We are investigating FSHD, caused by mutations that disrupt epigenetic regulation and gene expression in muscle, and limb girdle muscular dystrophy 2i, caused by coding mutations of FKRP. Our approach is to develop models of these diseases using patient-derived and stem-cell induced muscle cells, which will enable investigation of the molecular and cellular pathologies associated with these diseases and development of therapeutics. 

  • Miguel Sena Esteves

    Miguel Sena Esteves, PhD

    Academic Role: Associate professor of neurology

    Rare Disease: Brain tumors, Huntington’s disease, Lysosomal storage diseases

    Our lab focuses on AAV engineering to improve CNS gene transfer and therapeutic applications in neurodegenerative diseases with emphasis on lysosomal storage diseases (e.g. Tay-Sachs disease, GM1 gangliosidosis), Huntington’s disease and brain tumors.

  • Minggang Fang

    Minggang Fang, PhD

    Academic Role: Assistant professor of molecular, cell & cancer biology

    Rare Disease: Fragile X syndrome, Friedreich ataxia

    The genes frataxin and FMR1 cause Friedreich ataxia and fragile X syndrome, respectively. We have identified a number of promising drug targets and novel compounds that may repair defects in the neuron and cardiac cells damaged in these diseases. 

  • Katherine Fitzgerald

    Katherine Fitzgerald, PhD

    Academic Role: Professor of medicine | Worcester Foundation for Biomedical Research Chair

    Rare Disease: Inflammatory diseases

    Our lab is interested in understanding how the type I interferon response is regulated during infection. Our discovery that nucleic acids play a central role in the interferon response has paved the way for greater understanding of the earliest inflammatory response to infection by viruses. Recently, nucleic acid driven innate pathways have been linked to human disease. A family of rare single-gene disorders has been defined as caused by disturbances in intracellular nucleic acid metabolism or in cytosolic nucleic acid-sensing pathways. These diseases have a devastating impact on patients and there are currently no cures to treat them.

  • Terence Flotte

    Terence Flotte, MD

    Academic Role: Professor of pediatrics|Celia and Isaac Haidak Professor of Medical Education

    Rare Disease: Alpha-1 antitrypsin deficiency, Single gene disorders

    Our lab has developed a number of approaches to gene therapy for alpha-1 antitrypsin deficiency (genetic emphysema), using AAV gene therapy vectors, several of which we have tested in human trials. We have also developed vectors for a number of other single gene disorders, including fatty acid oxidation disorders and cystic fibrosis.

  • Fen-Biao Gao

    Fen-Biao Gao, PhD

    Academic Role: Professor of neurology|Governor Paul Cellucci Chair in Neuroscience Research

    Rare Disease: Amyotrophic lateral sclerosis (ALS), Frontotemporal dementia (FTD)

    Our lab has been at the forefront of investigations of the pathogenic mechanisms of FTD and related neurodegenerative disorders such as ALS. We generated the first induced pluripotent stem cell (iPSC) models of FTD and also use genetic model organisms such as Drosophila and mice. In recent years, we have contributed to the discovery of a number of molecular defects in ALS/FTD with genetic mutations in C9ORF72, CHMP2B and GRN.

  • Guangping Gao

    Guangping Gao, PhD

    Academic Role: Professor of microbiology & physiological systems|Penelope Booth Rockwell Professor in Biomedical Research|Director of the Li Weibo Rare Diseases Research Institute

    Rare Disease: Canavan disease

    Our lab works toward discovery, development and use of adeno-associated virus vectors for gene therapy of genetic diseases and the study of miRNA functions in mammals. We also develop novel strategies for rAAV gene therapy for Canavan disease, using novel AAVs that can cross the blood-brain-barrier for efficient CNS gene delivery and endogenous miRNA-mediated posttranscriptional de-targeting.

  • Edward Ginns

    Edward Ginns, MD, PhD

    Academic Role: Professor of psychiatry, neurology and pediatrics

    Rare Disease: Gaucher disease, Lysosomal storage diseases, Parkinson's disease

    Gaucher disease is the most common lysosomal storage disorder. Our current research involves developing novel therapies that improve quality of life, including orally administered enzyme and gene replacement therapy; and the identification of the molecular mechanisms affecting the clinical course of the disease, including the increased risk of Parkinson’s disease in individuals carrying a glucocerebrosidase gene Gaucher mutation.

  • Heather Gray-Edwards

    Heather Gray-Edwards, DVM, PhD

    Academic Role: Assistant professor of radiology|NeuroNexus Institute

    Rare Disease: Gene therapy, Tay-Sachs disease

    Development of molecular therapy for GM1, Sandhoff and Tay-Sachs disease. Establishing methods using high field strength MRI (7 Tesla) and Magnetic Resonance Spectroscopy (MRS) to non-invasively gather biochemical and metabolic information about the brain and to assess efficacy after gene therapy.

  • David Guertin

    David Guertin, PhD

    Academic Role: Associate professor of molecular medicine

    Rare Disease: Lipodystrophy, Multiple symmetric lipomatosis

    Our lab is interested in rare metabolic diseases, including lipodystrophies, which can be genetic or acquired, and 2-hydroxyglutaric aciduria, which is caused by mutations that alter chemical reactions in the mitochondria. We are using a combination of genetics, genomics and metabolomics to explore the molecular mechanisms driving these diseases with the long-term goal of finding novel treatments.

  • Lawrence Hayward

    Lawrence Hayward

    Academic Role: Professor of neurology

    Rare Disease: Facioscapulohumeral dystrophy (FSHD)

    Research group focuses on defining molecular mechanisms that cause selected neuromuscular diseases, including ALS (amyotrophic lateral sclerosis), FSH (facioscapulohumeral) muscular dystrophy, and hyperkalemic periodic paralysis.

  • Allan Jacobson

    Allan Jacobson, PhD

    Academic Role: Chair and professor of microbiology & physiological systems|Gerald L. Haidak, MD, and Zelda S. Haidak professor of cell biology

    Rare Disease: Nonsense-mediated mRNA decay

    Our lab studies post-transcriptional control of gene expression, yielding fundamental insights in three broad areas: poly(A) function, mRNA stability determinants and translation termination mechanisms. Our work led to the development of a first-in-class medicine for the treatment of nonsense-mediated Duchenne muscular dystrophy (DMD). The drug is now being used in more than 25 countries and is being evaluated as a therapeutic for similar genetic disorders.

  • Brian Kelch

    Brian Kelch

    Academic Role: Associate professor of biochemistry & molecular pharmacology

    Rare Disease: Gene therapy, PCNA-Associated DNA Repair Disorder

    The Kelch lab is interested in determining how macromolecular machines work, with special emphasis on machines involved in DNA replication and repair.  Understanding how these machines work will not only illuminate the underpinnings of these critically important cellular pathways, but can also lead to new targets for the development of novel cancer therapeutics and antibiotics.

  • Hemant Khanna

    Hemant Khanna, PhD

    Academic Role: Associate professor of ophthalmology

    Rare Disease: Glaucoma, Leber congenital amaurosis (LCA), Retinitis pigmentosa (RP)

    Our lab’s strategy involves understanding the mechanisms of ciliopathies—an emerging class of severe inherited disorders that occur due to the malfunctioning of tiny cellular antennae termed “cilia”—that lead to common forms of blindness, including LCA (childhood blindness) and RP, and utilizing this knowledge to develop innovative gene therapies.

  • Young Kim

    Young Kim, MD, PhD

    Academic Role: Professor of radiology

    Rare Disease: Budd-Chiari syndrome (BCS), Vascular disease

    Our lab is working to understand the two distinct processes of BCS: classical BCS, more common in Western countries, and Hepatic vena cava BCS (HVC BCS), more common elsewhere. Through research partnerships in China, we’ve learned that classical BCS is amenable to medical management, while angioplasty and stenting is more effective in HVC-BCS. Through further study, we hope to glean greater understanding of the pathophysiology and the best management of BCS.

  • Mark Klempner

    Mark Klempner, MD

    Academic Role: Professor of medicine|Executive Vice Chancellor for MassBiologics

    One of biggest challenges to realizing the promise of using gene therapies to cure or treat rare diseases is manufacturing safe and effective viral vectors that contain the therapeutic or curative transgene. To complement ongoing rare diseases research at UMass Chan and beyond, MassBiologics of UMass Chan Medical School has put in place an innovative Vector Development and Manufacturing Center to meet a growing demand by UMass Chan based investigators, companies and academic investigators for manufacturing of viral-vectored therapeutics for clinical trials and ultimately for commercial manufacturing.

  • Timothy Kowalik

    Timothy Kowalik, PhD

    Academic Role: Professor of microbiology & physiological systems|Dr. Marcellette G. Williams Distinguished Scholar

    Rare Disease: Congenital cytomegalovirus (CMV)

    CMV is the leading infectious cause of birth defects, more common in fact than Down syndrome and cystic fibrosis. Symptoms can be severe and include microcephaly (similar to Zika virus), blindness, deafness and developmental delay. Our lab performs basic and clinical research aimed at understanding CMV infections. We also collaborate with clinicians, mathematicians and bioinformaticists to develop novel models of infectious diseases. Our efforts are providing novel insights into CMV infections and contributing to the development of new drugs and vaccines that prevent birth defects.

  • John Landers

    John Landers, PhD

    Academic Role: Professor of neurology

    Rare Disease: Amyotrophic lateral sclerosis (ALS)

    The recent development of exon capture and short-read sequencing technologies now allows screening of cohorts for rare variants at a genome-wide scale in an economically feasible way. Our laboratory is focused on adopting the exon capture and short-read sequencing approach, in combination with bioinformatics analysis, to identify novel causative genes for FALS. It is our hope that by understanding the genetic causes of ALS, we will facilitate our understanding of all forms of ALS, as well as assisting in the development of diagnostics and therapies to extend the lifespan of ALS patients.

  • Jeanne Lawrence

    Jeanne Lawrence, PhD

    Academic Role: Professor of neurology

    Rare Disease: Trisomy 21 in Down syndrome

    Chromosomal imbalances have remained outside advances in genetics and biomedicine. After demonstrating that a single gene, XIST, can essentially silence trisomy in chromosome 21, my lab is further developing use of XIST for Down syndrome translational research. Our approach is relevant to other newborn trisomies (e.g. Trisomy 13 and 18); adaptations of it may ultimately become relevant to the myriad of rare chromosomal imbalances that collectively impact 1 in 140 newborns.

  • Nathan Lawson

    Nathan Lawson, PhD

    Academic Role: Professor of molecular, cell & cancer biology

    Rare Disease: Primary congenital lymphedema

    Our lab uses the zebrafish as a model to study primary congenital lymphedema, which is due to insufficient lymphatic vessel growth (known as Milroy disease). This condition in humans is due to rare mutations in genes encoding the FLT4 receptor tyrosine kinase or its ligand, VEGFC.  Similar mutations in zebrafish cause phenotypes identical to human patients. We also model rare lymphedema syndromes caused by lymphatic valve defects, including Emberger syndrome, which is a result of mutations in the transcription factor, GATA2. In all of these cases, the unique benefits of the zebrafish model allow us to gain novel insights into cellular and molecular mechanisms associated with these rare diseases. At the same time, these zebrafish mutants provide a powerful platform for small molecule screens to identify therapeutic compounds that alleviate disease symptoms.

  • Jeremy Luban

    Jeremy Luban, MD

    Academic Role: Professor of molecular medicine|David J. Freelander Professor in AIDS Research

    Rare Disease: Vectors for gene therapy

    Over 30 years, our lab has taken HIV-1 apart and re-engineered it back together. As a result, we now understand enough to exploit HIV-1, using the minimum virus “machinery” to repair genetic defects in the cells of people with rare diseases. These efforts are resulting in practical improvements to gene therapy vectors. Importantly, our lab has trained a generation of physician-scientists who are using our vectors to cure patients with such diseases as adrenoleukodystrophy, thalassemia, sickle cell anemia and otherwise untreatable cancers.

  • Junhao Mao

    Junhao Mao, PhD

    Academic Role: Associate professor of molecular, cell & cancer biology

    Rare Disease: Embryonal rhabdomyosarcoma, Hamartomatous polyposis syndromes

    My lab uses cellular, genomic and mouse modeling approaches to study the roles of several developmental pathways and how they contribute to tumorigenesis, including embryonal rhabdomyosarcoma. Our focus is the functional interplay of these pathways during polyposis of the rare hamartomatous polyposis syndromes. We have recently identified distinct cells of origin and molecular targets underlying these syndromes and have a built a foundation for developing targeted therapeutics.

  • Mary Munson

    Mary Munson, PhD

    Academic Role: Professor of biochemistry & molecular pharmacology

    Rare Disease: Severe congenital neutropenia

    My lab studies the molecular mechanisms underlying cellular membrane trafficking, using biochemistry and structural biology in combination with cell biology techniques and animal models. We are committed to understanding the cause of a severe congenital neutropenia in children that have mutations in an endosomal trafficking regulatory protein. We are characterizing the defective cells and phenotypes in a mouse model, and hope to gain insights into a possible gene therapy treatment for this often fatal disease.

  • Sumeda Nandadasa

    Sumeda Nandadasa, PhD

    Academic Role: Assistant professor of radiology

    Rare Disease: Ciliopathies, Joubert syndrome, Nephronophthisis

    The research in my laboratory is focused on understanding the function of extracellular matrix proteases belonging to the ADAMTS family of metalloproteinases in embryonic development and in disease. Specifically, we investigate a group of developmental birth defects known as ciliopathies that arise by the dysgenesis of the primary cilium, a crucial antenna-like cellular organelle, present in nearly all cells. The goals of our research are to 1.) Identify the cellular and molecular mechanisms of how metalloproteinases regulate ciliogenesis and 2.) Discover novel extracellular matrix and non-matrix substrates involved in disease onset and pathogenesis.

  • Peter Newburger

    Peter Newburger, MD

    Academic Role: Professor of pediatrics

    Rare Disease: Chronic granulomatous disease (CGD), Severe congenital neutropenia

    My lab has studied rare hereditary disorders of white blood cell number and function since the 1970s.  We started with analysis of the biochemistry of CGD. We then moved to the discovery and molecular pathology of genes responsible for CGD and severe congenital neutropenia. We are now working on animal models and gene therapy for these disorders. My work has always been inspired and informed by caring for children suffering from these rare and often lethal diseases.

  • Gary Ostroff

    Gary Ostroff, PhD

    Academic Role: Professor of molecular medicine

    Rare Disease: Cryptococcosis, coccidioidomycosis, histoplasmosis, candidiasis and blastomycosis fungal infections, Gaucher disease

    As the inventor of the deployment of the glucan particle delivery technology, I have worked on many drug and vaccine projects targeting unmet medical needs. Having led groups that developed drugs, devices and diagnostics that have saved countless lives, I left industry to return to my academic roots. At UMass Chan, I’ve collaborated to develop a treatment for soil transmitted helminths, and on vaccine development for diseases including fungal infections, plague and tularemia.

  • Claudio Punzo

    Claudio Punzo, PhD

    Academic Role: Associate professor of ophthalmology

    Rare Disease: Retinitis pigmentosa (RP)

    RP causes massive loss of photoreceptors and consequently blindness. We are targeting the common mechanism of cone death so that it may allow for the development of vision therapies with broad clinical significance. A therapy that intervenes at the level of cone death by either halting or delaying further degeneration can be applied at any stage of the disease progression and benefits all patients with RP.

  • Joel Richter

    Joel Richter, PhD

    Academic Role: Professor of molecular medicine|Arthur F. Koskinas Chair in Neuroscience

    Rare Disease: Fragile X syndrome

    Our center examines the underlying molecular basis of fragile X, focusing on how aberrant protein synthesis leads to brain circuitry that goes awry in this disease. Our work shows that fragile X can be mitigated in model mice by restoring translational homeostasis in the brain, which offers an avenue for therapeutic development to treat this disorder.

  • Jaime Rivera

    Jaime Rivera, PhD

    Academic Role: Associate professor of pediatrics

    Rare Disease: Down syndrome

    The focus of my research is to understand the key regulators that shape the mammalian embryo. I am engaged in research that takes advantage of mouse models of Down syndrome to develop novel therapeutic treatments. In addition, I have developed new technology to generate genetically modified mice that does not require microinjection techniques and can be done in vivo. We are expanding this application to additional mammalian species in order to generate better models of human disease. 

  • Ann Rothstein

    Ann Rothstein, PhD

    Academic Role: Professor, department of medicine, rheumatology

    Rare Disease: Inflammatory diseases

    The main focus of my research for the past 25 years has been the role of nucleic acid sensors in the initiation and progression of systemic autoimmune and autoinflammatory diseases. My lab was the first to show that endosomal Toll-like receptors could detect mammalian nucleic acids, and not just microbial nucleic acids. Identification of these autoadjuvants explained why many of the autoantibodies frequently found in patients with SLE and related systemic autoimmune disorders recognize DNA, RNA or nucleic acid-binding proteins. More recently, my research interests have shifted to a rare category autoinflammatory diseases, now categorized as monogenic interferonopathies, that have been linked to defects in the function of the cytosolic DNA-sensing cGAS/STING pathway.

  • Tadatoshi Sato

    Tadatoshi Sato, PhD

    Academic Role: Assistant professor, department of medicine, rheumatology

    Rare Disease: Skeletal disease

    We have been developing novel gene therapy for rare skeletal diseases, such as Osteogenesis Imperfecta (OI), Fibrodysplasia ossificans progressiva (FOP), Jansen Metaphyseal Chondrodysplasia (JMC), and  X-linked hypophosphatemia (XLH). For example, Osteogenesis Imperfecta (OI) is the most common rare skeletal disease characterized by bone fragility. The incidence is approximately 1 in 25,000-50,000 in the US. Up to 85% of OI patients have autosomal dominant mutations in either the COL1A1 or COL1A2 gene. The treatments of OI are improving bone strength, reducing fracture risk and pain, and preventing long-term complications. However, drug treatments show limited success because they cannot alter the causes of the collagen mutations. To develop novel therapeutics to correct collagen mutations in OI, we developed the recombinant adeno-associated virus (rAAV) that can deliver the CRISPR/SaCa9-mediated gene-editing system to osteoblast-lineage cells in the bone.

  • Jae-Hyuck Shim

    Jae-Hyuck Shim, PhD

    Academic Role: Associate professor of medicine

    Rare Disease: Cleidocranial dysplasia, Fribrodysplasia ossificans progressive, Metachondromatosis, Neurofibromatosis type 1, Paget’s disease of bone, Rubinstein Tabi syndrome

    Using mouse models of human skeletal disorders, our lab focuses on elucidating molecular and genetic pathways that contribute to development of rare skeletal disorders, with the goal of developing therapeutics for these diseases. We are developing a novel bone-homing adeno-associated virus that would be useful for gene therapy for human skeletal disorders.

  • Erik Sontheimer

    Erik Sontheimer, PhD

    Academic Role: Professor of RNA therapeutics and molecular medicine

    Rare Disease: Alpha-1 antitrypsin deficiency, Granulomatous disease, Hereditary tyrosinemia type I (HTI), Primary hyperoxaluria, TTR amyloidosis

    In our work developing CRISPR genome editing in the collaborative environment here, we have many opportunities to apply our tools to a range of inherited diseases, including, so far, chronic granulomatous disease and hereditary tyrosinemia type I, with more clinical opportunities under development. I co-founded and advise Intellia Therapeutics, which is developing therapeutic genome editing treatments for TTR amyloidosis, alpha-1 antitrypsin deficiency, hemoglobinopathies, primary hyperoxaluria and other disorders.

  • Phillip Tai

    Phillip Tai, PhD

    Academic Role: Assistant professor of microbiology & physiological systems

    Rare Disease: Canavan disease, Gene therapy

    My lab focuses on research involving the discovery and characterization of novel gene therapy vectors, with an emphasis on using next-gen sequencing (NGS) methods to understand adeno-associated virus (AAV) biology and host response to vector administration and tissue transduction. We proudly collaborate with multiple research entities to develop novel vector strategies to target diseases that afflict the CNS, striated muscles, the neuromuscular axis, the eye, and liver.  We are also developing gene regulation strategies for AAV-based transgene expression for CNS and cardiac diseases such as Canavan disease and familial atrial fibrillation.

    My research team and I are dedicated to the development of gene therapy platforms to treat genetic diseases, as these tools many times represent the only treatment options for patients with rare diseases.

  • Eduardo Torres

    Eduardo Torres

    Academic Role: Assistant professor of molecular, cell and cancer biology

    Rare Disease: Down syndrome, Trisomy 21 in Down syndrome

    Our research goals are to identify the mechanisms through which aneuploidy affects the physiology of the cell, to investigate how an abnormal organelle function contributes to the pathophysiology of trisomy 21, and to target biochemical pathways so as to suppress aneuploidy-associated phenotypes in trisomy 21 cells.

  • Chinmay Trivedi

    Chinmay Trivedi, MD, PhD

    Academic Role: Associate professor of medicine and molecular, cell & cancer biology

    Rare Disease: Craniofacial disorders, Holt-Oram syndrome, Loeys-Dietz syndrome, Lymphedema

    Using knockout and transgenic mouse models, we have uncovered essential roles of chromatin modifying enzymes in the pathogenesis of rare genetic human diseases such as Holt-Oram syndrome, Loeys-Dietz syndrome, craniofacial disorders and lymphedema (Emberger syndrome).

  • Marian Walhout

    Marian Walhout, PhD

    Academic Role: Professor of molecular medicine|Maroun Semaan Chair in Biomedical Research

    Rare Disease: Errors of human metabolism

    Our lab uses the nematode C. elegans as a model to study different inborn errors of human metabolism. These include propionic and methylmalonic acidemia, cobalamin-related disorders and maple syrup urine disease. We make use of the facile forward and reverse genetics in C. elegans to rapidly explore broad network-level connections between genes.

  • Dan Wang

    Dan Wang, PhD

    Academic Role: Assistant professor of RNA therapeutics|Horae Gene Therapy Center

    Rare Disease: Metabolic diseases, Neurological diseases

    Our research centers around gene therapy using adeno-associated virus (AAV) vectors. We carry out translational gene therapy studies targeting several rare diseases, and develop therapeutic platforms based on molecular approaches such as genome editing and RNA-based methods. We also develop platform technologies to facilitate AAV-based gene therapy, such as animal modeling and AAV vector production.

  • Jonathan Watts

    Jonathan Watts, PhD

    Academic Role: Associate professor of RNA therapeutics

    Rare Disease: Friedreich ataxia

    Our lab is currently working on therapeutics for Friedreich’s ataxia.  A central theme of our research is the development of platform technologies that would improve gene silencing in the lung and brain, allowing us to develop successful drugs for rare diseases more rapidly and safely and at lower cost.

  • George Witman

    George Witman, PhD

    Academic Role: Professor of radiology|George F. Booth Chair in Basic Sciences

    Rare Disease: Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis (LCA), Nephronophthisis, Primary ciliary dyskinesia (PCD)

    My long term goal has been to understand both motile and non-motile cilia and flagella. Defects in motile cilia and flagella cause PCD. Our research led to the discovery of the first candidate genes for PCD; these genes were then found to be defective in some patients with PCD. Subsequently, we discovered that defects in non-motile cilia cause polycystic kidney disease; these defects may also cause many rare diseases. My current focus is on identifying new genes involved in cilia formation and their function in human health and disease.

  • Scot Wolfe

    Scot Wolfe, PhD

    Academic Role: Professor of molecular, cell & cancer biology

    Rare Disease: Chronic granulomatous disease (CGD), Hermansky-Pudlak syndrome, Limb girdle muscular dystrophy

    We are focused on the development and application of genome editing tools for the repair of genetic mutations associated with monogenic disorders. Improved editing reagents and approaches can be applied to any genetic disorder, and so we are beginning to investigate the utility of these reagents for a number of other disorders.  My laboratory has a keen interest in bringing new corrective therapies to the clinic to help populations of patients that have no effective therapeutics to combat their disorders.

  • Wen Xue

    Wen Xue, PhD

    Academic Role: Assistant professor of RNA therapeutics

    Rare Disease: Hereditary tyrosinemia type I (HTI)

    My lab studies HTI, a fatal disease caused by genetic mutations resulting in severe liver damage. The only treatment currently available is not curative and increases the risk of liver cancer. We are developing a programmable delivery strategy of CRISPR-based precise genome editing that has the potential to correct a broad range of genetic disease mutations. Our approach has the potential to provide long term therapeutic results after a single administration.