Adrian Isaacs

I did my undergraduate studies in molecular biology and genetics at the University of Manchester. As part of those studies I spent one year working at the Mayo Clinic in Florida with John Hardy and Mike Hutton, where I was part of the team that discovered that mutations in MAPT cause frontotemporal dementia. This set me on the path to research into neurodegenerative diseases. I then did my PhD at Oxford University and my post-doctoral studies at Harvard Medical School before coming to UCL to start my research group.

Postdoctoral Research Associates

Alex Cammack

I completed my undergraduate degree in Cell and Molecular Biology at Tulane University in New Orleans, USA. I then received my PhD in Neurosciences from Washington University in St. Louis, USA, where I studied neuronal epigenetics and mechanisms of ALS/FTD in the lab of Tim Miller. I am now a postdoctoral researcher in Adrian Isaacs’s lab at UCL, where I am using mouse models to investigate disease mechanisms of C9orf72 ALS/FTD.

Georgina Starling

After discovering a love of cell biology during my BSc in Biomedical Science at Oxford Brookes University, I pursued an MSc at King’s College London where I worked in Dr Mark Dodding’s lab researching lysosomal response and positioning during cancer. I then worked for a year as a research assistant with Prof. Steve Royle at Warwick Medical School looking at membrane organisation during mitosis in glioblastoma before starting my PhD with Prof. Jason King at the University of Sheffield. Here my project was focused on characterising a gene associated with brain development defect, which I discovered functions in membrane trafficking and microtubule damage in both model systems and brain cell lines. Since starting my post-doc in 2021, I have been working on identifying the proteins involved in membrane repair and also working on the ongoing CHMP2B project. My post-doc is co-supervised by Jez Carlton at the Francis Crick Institute/ King’s College London and is funded by a phase 2 CZI NDCN collaborative pairs grant.

Paolo Marchi

I obtained my undergraduate degree in Biotechnology from the University of Verona in Italy. Following that, I pursued my MSc in Neuroscience at King’s College London in the UK and completed my PhD in Neuroscience at the University of Sheffield (SiTraN institute). During my research, I investigated the role of dipeptide repeat proteins in astrocyte-to-neuron propagation in C9orf72 ALS/FTD. Currently, I am working as a postdoctoral researcher in Adrian Isaacs’s lab at UCL. In my current role, I am using high-throughput drug screening to identify compounds that could potentially reduce DPR burden in iPSC-derived neurons.

Cristina Marisol Castillo Bautista

I completed my undergraduate degree in Chemistry Pharmaceutical Biology from Yucatan, Mexico, followed by an MSc in Biotechnology from the same university. In 2019, I moved to Germany to start my Ph.D. in Biosciences at Technische Universität Dresden. During my time there, I researched small molecules that can induce autophagy and rescue FUS-ALS phenotype in iPSC-derived neurons in Jared Sterneckert’s Lab. In 2023, I moved to London to work as a Research Assistant (postdoctoral researcher in progress) in Adrian Isaacs’s lab at UCL and Jeremy Carlton’s Lab at KCL. Our research focuses on investigating the mechanisms involved in the plasma membrane and lysosome damage repair using CRISPR screening and iPSC-derived neurons.

Jonas Mechtersheimer

I studied Neurosciences at the University of Zürich and I subsequently started my PhD in Molecular Biology at the University of Bern under the supervision of Marc-David Ruepp. Upon relocation of the research group to London, I was awarded the PhD from KCL in 2020. My main focus was a novel approach to the generation of clean gene knock-outs and replacements using CRISPR as well as elucidating potential defects related to splicing in an iPSC based model of FUS-ALS. Subsequently, I worked for 2 years as a research fellow elucidating potential mitochondrial dysfunction in the early stages of Amyotrophic Lateral Sclerosis (ALS) in an MRC funded joint grant between UCL and KCL under the supervision of Helene Plun-Favreau, Anny Fleur Devoy and Marc-David Ruepp. Currently I am a research fellow at the UCL Drug Discovery Institute (DDI) and am collaborating with the Isaacs lab to find compounds for the treatment of ALS/FTD using high throughput screening.

Martha Roberts

I completed my undergraduate studies in Natural Sciences at Durham University, followed by an MSc in Neuroscience at UCL, where I began researching neurodegenerative diseases. During my PhD with Prof Linda Greensmith, I used transcriptomics to identify novel drug targets for Spinal and Bulbar Muscular Atrophy and developed a muscle-specific gene therapy approach. Currently, as a postdoctoral researcher in the Isaacs Lab, I am using in vivo models to advance a gene therapy for C9orf72 ALS/FTD

PhD Students

Ava Devaney

I completed my undergraduate degree in 2021 from DePaul University in Chicago, USA. During my undergraduate studies I worked in a neuroendocrinology lab, investigating the effects of environmental contaminants on the interactions between neural, endocrine, and immune function during development. Upon graduation, I began at Arrakis Therapeutics, a biotechnology company in Boston working to develop small molecules that target RNA, where I worked to discover novel therapeutic targets of interest for immunology, oncology, and neurobiology disease targets of interest. I then moved to London to work at the ARUK Drug Discovery Institute at UCL, using multidisciplinary approaches to identify novel therapies for dementia. I started my PhD in Adrian Isaacs lab in 2024, working in collaboration with the ARUK DDI to explore the role of cryptic exons in ALS and FTD and discover potential novel therapies.

Research Technicians

Mireia Carcolé Estrada

I graduated in Biology and Biochemistry and I completed a MSc in Neuroscience in the Autonomous University of Barcelona, Spain. Subsequently, I started a PhD in Biomedicine in the Neuropharmacology group at University Pompeu Fabra (Barcelona, Spain) together with the pharmaceutical company Laboratories of Dr. Esteve. I completed my PhD thesis entitled “Role of the sigma-1 receptor in the pathophysiology of osteoarthritis pain” in December 2019. I then joined Adrian Isaacs’ group as a senior research technician, where I support all the in vivo projects in the lab to investigate the disease mechanism of amyotrophic lateral sclerosis using relevant mouse models, as well as develop more sensitives assays to analyse the dipeptide repeat proteins that accumulate in C9orf72 ALS/FTD.

Kyra Schweers

I completed my undergraduate degree in Honours Neuroscience at McGill University (Canada) where I studied structural changes as a result of motor learning and synaptic heterogeneity in the mouse cerebellum. After completing my research project as an MRes Translational Neuroscience student at UCL in the Isaacs Lab, I stayed as a research technician to continue to investigate a gene therapy against amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Alessia Fisher

Alumni

Paula de Oliveira

I completed my undergraduate degree in Pharmaceutical Sciences and correspondent MPharm at the University of Coimbra (Portugal). I then received my doctoral degree in Neurosciences from the University of Surrey (UK), which focused on investigating effective therapeutics in the context of sleep disorders and neurodegeneration. My current research focus as a postdoctoral researcher in Isaacs/Lignani’s lab focus on using in vivo models to investigate potential gene therapies against amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD).

Yashica Gupta

I completed my undergraduate degree in Biological Sciences at Imperial College London. During my undergraduate studies, I successfully applied to In2scienceUK’s In2research programme which allowed me to join the lab as a summer student to investigate disease-specific phenotypes in C9orf72 ALS/FTD patient-derived iPSC neurons. I am currently a Research Technician in the lab supporting an exciting project that utilises C9orf72 ALS/FTD patient-derived iPSC reporter cell lines of dipeptide repeat proteins (DPRs) poly(GA) and poly(GP) to conduct high-throughput small molecule screening in cortical neurons. I am passionate about improving equality, diversity and inclusion in STEM and actively contribute to multiple EDI initiatives within the Institute of Neurology.

Khrisha Jotangiya

I completed my undergraduate degree in Neuroscience at the University of Sussex and have now received my master’s degree in Clinical Neuroscience at UCL. During my MSc degree at UCL, I joined Issacs’s lab where I conducted research towards my thesis which focused on investigating potential gene therapies against amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) using in vivo models. I have now joined the Isaacs lab as a research technician, where I am further supporting the research towards the same project.

Rachel Coneys

I graduated in Neuroscience from the University of Leeds. During my undergraduate studies I completed a summer placement in Professor Ian Woods lab investigating excessive microglia activation in Alzheimer’s Disease. I started my PhD in 2019 as part of the Wolfson-Eisai Neurodegeneration UCL PhD programme funded by Eisai . After my rotation year, I joined the Isaacs lab to study how molecular chaperones can be manipulated to modify TDP-43 toxicity in ALS/FTD using stem cell derived neurons.

Ashling Giblin

I completed my undergraduate degree in Biomedical Science at the National University of Ireland Galway. In the penultimate year of my degree, I received an academic exchange scholarship to study at the Hong Kong University of Science and Technology. Upon returning, I worked with Eilis Dowd’s group investigating biomaterial-based delivery of neurotrophic factors to the Parkinsonian rat brain. Subsequently, I joined the lab of David Finn to complete my Bachelor thesis, characterising the central endocannabinoid system in a mouse model of rheumatoid arthritis. In 2019, I joined the labs of Adrian Isaacs and Linda Partridge, supported by an ARUK PhD Scholarship. My PhD research involves investigating genetic modifiers of C9orf72 ALS/FTD in Drosophila, with the aim of identifying novel therapeutic targets.

Benedikt Holbling

I graduated in Molecular Biomedicine at the University of Bonn, where I investigated age-dependent microglial activation in the healthy brain. Hereafter, I studied at the Graduate Training Center of Cellular & Molecular Neuroscience at the University of Tübingen. In my Master thesis, I investigated different risk factors of Hereditary Spastic Paraplegia in human cell models and yeast. I started my PhD in Adrian Isaacs lab in 2018 to study mechanisms of C9ORF72 associated ALS and FTD. By using stem cell derived neurons we aim to find regulatory mechanisms of the disease and novel treatment opportunities.

Liam Kempthorne

I completed my undergraduate degree in Neuroscience at the University of Leeds. During my undergraduate studies I undertook a placement year with Prof. Dennis Dickson at the Mayo Clinic Brain Bank in Florida, where I worked on microglial phenotypes in white-matter disorders. I then moved to London to work as a Research Assistant for one year at UCL Institute of Neurology in the Plun-Favreau Lab developing and carrying out a small-molecule screen for modifiers of mitophagy. I am now undertaking my PhD as part of the Leonard Wolfson Neurodegenerative Disease programme in the Isaacs Lab working on a genetic therapy for C9orf72-related FTD/ALS.

Carmelo Milioto

After graduating in Biotechnology at the University of Milan, I did my PhD in Neuroscience and Brain Technologies at the Italian Institute of Technology, Genova. As part of my PhD, I also spent 2 years at the Center for Integrative Biology, University of Trento. I completed my PhD project “Role of skeletal muscle in spinal and bulbar muscular atrophy: identification of pathogenetic pathways and new translational approaches” in April 2016. I then joined Adrian Isaacs’ laboratory at the UCL Institute of Neurology. My current research focus is to generate new knock-in mouse models of amyotrophic lateral sclerosis (ALS). These mouse models will be important to further investigate the disease mechanism of C9orf72 ALS/FTD.

Olivia Attrebi

I completed my undergraduate degree in Neuroscience at the University of Leeds. During my time at university, I undertook a one-year placement in Dr Bu’s Neurobiology of Alzheimer’s Disease Lab at Mayo Clinic, Florida. There I worked on projects focused on the modulation of apolipoprotein E for Alzheimer’s disease therapy. After graduating in 2019, I joined Isaacs Lab as a research technician. Here, in collaboration with Dr Gabriele Lignani’s Lab at UCL Queen Square Institute of Neurology, I currently support an exciting project focused on a new gene therapy for C9orf72-related FTD/ALS.

Deniz Vaizoglu

I moved to London in 2016 to study Neuroscience at UCL and graduated with an MSci degree in 2020. During my master’s project, I joined Isaacs Lab to work on a genetic therapy for C9orf72-related FTD/ALS. Currently, I am contributing to the same project as a Research Technician, mainly by assisting in iPSC derived neuron models.

Magda Atilano

I graduated from Universidade da Beira Interior in Portugal, specializing in biochemistry. I subsequently moved to ITQB/ Universidade Nova de Lisboa to investigate the mechanisms used by S. aureus to avoid innate immune recognition. Following my PhD, I joined Petros Ligoxygakis’ Lab at the University of Oxford where I investigate the role of innate immune signaling in gut homeostasis using Drosophila as model organism. I joined Linda Partridge’s Lab at UCL and in collaboration with Adrian Isaacs’ group I am studying the neurodegeneration disease mechanism’s associated with C9orf72 repeat expansions using the drosophila model.

Sally Salomonsson

Originally from Sweden, I moved to the UK to complete an undergraduate degree in Psychology at the University of Edinburgh. After working with cancer research following graduation, I returned to academia and the University of Edinburgh and graduated with an MSc in Neuroscience in 2017. There I worked in the Spires-Jones lab on a project investigating cortical synapse loss and synaptic proteinopathy in ALS. Desiring to continue research into the molecular biology of the ALS/FTD disease spectrum, I commenced a PhD project supervised by Prof Adrian Isaacs, using C9orf72 mutation ALS/FTD patient induced pluripotent stem cell-derived neurons to study the non-canonical translation of toxic proteins associated with this mutation.

Katie Wilson

I carried out my undergraduate degree in Biology at York University, which included a year in industry placement, joining a team researching gene therapy for cystic fibrosis at Imperial College London.  Prior to joining the Isaacs group, I completed my PhD at York, researching the role of glycans in osteogenesis. My research aims are to utilize patient derived induced pluripotent stem cells to create human neuronal cultures. These cultures will then be analysed using longitudinal imaging to gain further understanding of the disease mechanism of C9orf72 ALS/FTD.

Almudena Inés Santos Bajo

I graduated in Biology at the Universidad de Alcalá de Henares. In 2010 I started my research career, assisting in the study of GRK2 protein at CBMSO in Madrid. Then moved to Liverpool where our focus was PDAC and in 2019 I joined Dr. Adrian Isaacs lab as a Research technician where I mainly assist with the iPSC cell work in order to gain a better understanding of the  C9orf72 mutation in FTD/ALS.

Lauren Gittings

I completed my undergraduate degree in Natural Sciences at the University of Bath, during which time I spent a placement year working on multidrug resistance proteins in a lab at St Jude Children’s Research Hospital in Memphis, USA. After graduating, I started on the Leonard Wolfson Neurodegenerative Diseases PhD programme at UCL and carried out a range of rotation projects investigating various aspects of neurodegeneration. These projects included work with induced pluripotent stem cells, electrophysiology and Drosophila models. I am currently working under the supervision of Dr. Adrian Isaacs and Dr. Tammaryn Lashley at the Queen Square Brain Bank where I am using neuropathology to investigate the disease mechanism of C9orf72 ALS/FTD. 

Annalisa Cavallini

I graduated in Pharmaceutical Chemistry and Technology from the University of Bologna, Italy, and then completed an industrial placement at Eli Lilly and Co, Windlesham, UK; I then joined Lilly and I am currently working as a Research Biologist. In 2012 I started a part-time PhD in the laboratory of Adrian Isaacs at the UCL Institute of Neurology, focusing on cell-based models of tau aggregation and propagation and the molecular mechanisms of tau transmission in tauopathies.

Bhavana Muralidharan

I did my undergraduate training in Biotechnology from GGSIP University, Delhi, India. I completed my PhD from NCCS, Pune, India studying post-transcriptional mechanisms of gene regulation. Subsequently I switched to developmental neurobiology and joined Shubha Tole’s lab at TIFR, Mumbai, India investigating the molecular mechanisms of cortical neurogenesis in the developing mouse brain. I have joined Adrian Isaacs lab to gain a molecular understanding of the disease mechanisms of the C9orf72 mutation from neurons made from patient derived iPSC lines.

Jack Humphrey

I completed an undergraduate masters degree in Natural Sciences from UCL with the rather unwieldy title of “Brain, Behaviour & Cognition with Synthetic Organic Chemistry”. After a brief trip abroad in Giessen, Germany to study rat enteric neurons, I finished my degree with a project investigating Mendelian pain disorders using molecular and cell biology with John Wood. I’ve since switched from the wet lab to the dry as my PhD, co-supervised by Adrian Isaacs and Vincent Plagnol, uses computational tools to investigate changes at the RNA level in different models of neurodegenerative disease.

Annora Thoeng

I am a technician assisting in the study of C9orf72 mutation in FTD/ALS. I completed my undergraduate studies in medical science at University of Sydney, Australia. I’ve been working as a technician for over 6 years, specialising in molecular biology and protein work. Previous posts include Centenary Institute and Garvan Institute of Medical Research where I worked on various cancer research as well as Drosophila studies. I  relocated to London in July 2015 and joined the Isaacs lab at the UCL Institute of Neurology that October.

Idoia Glaria

I graduated in Biology at University of Navarra, Spain, and then completed MSc and PhD in Biotechnology at the Institute of Agrobiotechnology. During my PhD, I performed the isolation and characterization of Small Ruminant Lentivirus strains involved in highly pathogenic outbreaks, researching the role of cellular restriction factors, such as APOBEC3, in the elimination of the virus. I worked as Senior Technician for the Spanish National Research Council and then I joined Adrian Isaacs’ group. My research aim is to measure dipeptide repeat proteins in human samples and drosophila/iPSC derived neuron models as they are potential biomarkers of C9orf72 ALS/FTD disease progression.

Teresa Niccoli

I completed my undergraduate degree in Natural Sciences at Cambridge University and did my PhD with Paul Nurse at Cancer Research UK, studying cell polarity and microtubule dynamics in yeast. I continued investigating cell polarity at the Gurdon Institute in Cambridge with Daniel St Johnston. I then joined Linda Partridge’s lab at UCL to work on Drosophila models of neurodegeneration before moving to Adrian Isaacs’ laboratory where I am investigating disease mechanisms in ALS/FTD using Drosophila disease models.

Thomas Moens

Current: Post-doctoral scientist VIB Leuven

I was a PhD student working under the supervision of Dr Adrian Isaacs and Professor Linda Partridge. My research focused on attempting to understand the processes that lead to neurodegeneration in patients with amyotrophic lateral sclerosis and/or frontotemporal dementia, using fruit flies as a model system. I completed my undergraduate degree in Biological Sciences at the University of Oxford in 2012. After that I moved to UCL, where I undertook a masters degree in Neuroscience, before joining UCL PhD programme in Clinical Neuroscience supported by the Brain Research Trust.

Marie Konrad

Current: PhD student Kings College London

I completed my undergraduate in biology with a specialisation in molecular biology at the University of Vienna. From the same university, I also obtained a Master’s degree in molecular biology specialising in molecular medicine. During my Master’s thesis research project at the Medical University of Vienna, In March 2016 I joined the Isaacs group where I am currently assisting in the development of a drug screening assay aiming to identify compounds inhibiting RAN translation, a key feature of C9orf72 frontotemporal dementia and amyotrophic lateral sclerosis.

Rubika Balendra

Current: Clinical Neurology training UCL

I was a UCL Leonard Wolfson Experimental Neurology Centre Clinical Research Training Fellow doing a PhD supervised by Dr Adrian Isaacs, Prof Linda Partridge and Dr Rickie Patani. I was funded by a Wellcome Trust Research Training Fellowship. I integrated two pre-clinical C9orf72-ALS disease models to study mechanisms and therapies: human induced pluripotent stem cell derived motor neurons and a Drosophila in-vivo model. I read medicine at Queens’ College, University of Cambridge and at UCL. I then embarked upon joint clinical and academic training as an Academic Foundation Doctor in Clinical Neurosciences at Cambridge University Hospitals. I continued clinical and academic training as an Academic Clinical Fellow at Guy’s and St. Thomas’ Hospital, studying motor neuron disease at King’s College London.

Jamie Mitchell

Current: PhD student UCL

I worked on C9orf72 mutations in ALS/FTD using human derived induced pluripotent stem cells as disease model. I studied Medical Science for my undergraduate at University of Leeds before undertaking MSc in Neuroscience in UCL.

Sarah Mizielinska (Postdoctoral scientist – 2016)

Current: Lecturer in Dementia & Neurodegenerative Disorders, Maurice Wohl Clinical Neuroscience Institute, King’s College London

My research focuses on molecular and cellular mechanisms of neurodegeneration caused by repeat expansions, particularly the C9orf72 mutation in frontotemporal dementia and amyotrophic lateral sclerosis. I began my career by studying Pharmacology and Neuroscience at the University of Bristol, and then completed a PhD investigating early neuronal changes during excitotoxicity at the University of Dundee. I then joined the laboratory of Adrian Isaacs at the UCL Institute of Neurology to investigate the relative roles of RNA and protein pathologies in neurodegeneration.

Javier Gilbert (MRes student – 2016)

Current: Junior lecturer and researcher, ESPOL Ecuador

I graduated with honors in Biology from Escuela Superior Politécnica del Litoral, Ecuador (2014). During my undergraduate I collaborated as a Research student in Antarctica for a binational cooperation project (Ecuador-Chile), performing genetic biomarker discovery of Antarctic sea urchin (S. neumayeri). I joined the lab as part of the project “Development of a biomarker for FTD and ALS caused by C9orf72 repeat expansion” and successfully obtained a MRes Translational Neurology at UCL.

Roberto Simone (Postdoctoral scientist – 2016)

Current: Postdoctoral scientist, Department of Molecular Neuroscience, Institute of Neurology, UCL

My current research focus is on developing a small molecule-based therapeutic strategy to target the large intronic expansions present in individuals affected by C9-ALS-FTD. After graduating in Molecular Biology at the University “La Sapienza” of Rome under the supervision of Prof. Irene Bozzoni, I did my PhD in Functional Genomics, characterizing the transcriptional landscapes of mouse dopaminergic neurons. As part of these studies, I spent one year at RIKEN in Tokyo, where together with Piero Carninci and Charles Plessy, I contributed to develop nanoCAGE, a method to map and quantify transcription start sites genome-wide. During my previous postdoctoral experience I mainly focused on understanding mechanisms for human tau co- and post-transcriptional regulation.

Emma Clayton (Postdoctoral scientist – 2016)

Current: Postdoctoral scientist, Dept of Clinical & Experimental Epilepsy, Institute of Neurology, UCL

As an undergraduate I studied genetics at University College Cork, Ireland. After an internship at the Kennedy Space Centre, I moved to Scotland to pursue a Neuroscience PhD on synaptic vesicle trafficking. I moved to UCL in 2009, to focus on intracellular trafficking.  My work looked at the effect of mutation of the CHMP2B gene on the endolysosomal system in frontotemporal dementia.

Frances Norona (Technician – 2016)

Current: Student at The Royal Veterinary College 

I studied Molecular and Cell Biology with an emphasis in Neurobiology at the University of California, Berkeley. I then did a two year stint in the Peace Corps delivering community health education in Albania. Returning to science, I worked in a neurobiology laboratory at the Ohio State University where I studied circadian rhythms. I have been working in Dr Adrian Isaacs’ laboratory as a research technician, assisting on both the C9orf72 and CHMP2B projects. In addition, I am currently pursuing a degree in veterinary medicine at the Royal Veterinary College.