2026 DIAD Family Conference Materials

Randall Bateman, MD, Charles F. and Joanne Knight Distinguished Professor of Neurology: WashU Medicine, United States

Randall Bateman, MD is the Charles F. and Joanne Knight Distinguished Professor of Neurology, Co-Director of the Dominantly Inherited Alzheimer Network (DIAN), Director of C-BRAIN and Director of the DIAN Trials Unit (DIAN-TU). Dr. Bateman’s research focuses on the pathophysiology and development of improved diagnostics and treatments of Alzheimer’s disease. His lab created the first high-accuracy blood test for Alzheimer’s disease, which is now used clinically. His research in DIAN has provided evidence for a cascade of events beginning decades before symptom onset that leads to AD dementia, supporting the development of Alzheimer’s disease prevention trials. Dr. Bateman directs the DIAN-TU, which launched the first prevention trial in families with early-onset Alzheimer’s disease in 2012. The DIAN-TU trial is an advanced worldwide adaptive trial platform that tests the most advanced therapeutics targeting amyloid and tau in Alzheimer’s disease. The DIAN-TU goal is to slow, stop, or reverse Alzheimer’s disease. The DIAN-TU has launched five drug arms with a range of amyloid-beta and tau-directed drugs including in combination and a primary prevention trial to prevent amyloid plaques from forming.

Dr. Bateman has received a number of awards including the Potamkin Prize. He is an elected member of the National Academy of Medicine and is currently serving as the Appointed Chairman of the Research Sub-Committee of the Health and Human Services NAPA Council, the Advisory Council on Alzheimer’s Research, Care, and Services.

Maria Carrillo, PhD, Chief Science Officer and Medical Affairs Lead: Alzheimer’s Association, United States

As chief science officer and medical affairs lead, Maria C. Carrillo, Ph.D., sets the strategic vision for the global research program of the Alzheimer’s Association. The Association is the world’s largest nonprofit funder of Alzheimer’s research. Research initiatives includes the Alzheimer’s Association International Conference® (AAIC®) and the Research Roundtable, which enables international scientific, industry and government leaders to work together to overcome shared obstacles in Alzheimer’s science and drug development. Additionally, Dr. Carrillo is a co-principal investigator for the Alzheimer’s Network for Treatment and Diagnostics (ALZ-NET). The International Research Grant Program is currently investing more than $490 million in over 1,220 active and committed research projects in 59 countries, spanning six continents.

Dr. Carrillo is a co-primary investigator for the Association-funded and led U.S. POINTER study, a lifestyle intervention trial to prevent cognitive decline and dementia. She is also a co-primary investigator on the Longitudinal Early-Onset Alzheimer’s Disease Study (LEADS). Dr. Carrillo has published extensively on early diagnosis and biomarker standardization efforts, as well as on the global challenges to progress for research in Alzheimer’s and dementia.

Dr. Carrillo earned her Ph.D. from Northwestern University’s Institute for Neuroscience and completed a postdoctoral fellowship focused on Alzheimer’s brain imaging and risk factors at Rush University Medical Center in Chicago. She holds a bachelor’s degree in psychology from the University of Illinois.

Fiona Elwood, PhD, Vice President and Neurodegeneration Disease Area Stronghold (DAS) Leader: Johnson & Johnson, United States

Fiona has extensive experience in neuroscience and neurodegenerative research and development, with a strong commitment to scientific excellence and collaborative teamwork. She brings deep expertise in the molecular mechanisms of neurodegeneration, as well as in drug discovery and development, focused on improving outcomes for patients and caregivers.
In her current role as Neurodegeneration Disease Area Stronghold Leader at J&J, Fiona is responsible for the scientific strategy for the neurodegeneration portfolio, from target selection through Phase III clinical development. Previously, she served as Interim Global Head of Neuroscience and Head of Neurodegeneration at Novartis Institute for Biomedical Research. Prior to Novartis, she spent nearly 10 years at Merck Research Laboratories, holding roles of increasing responsibility across the neuroscience and immunology therapeutic areas. She also serves as Chair of the Alzheimer’s Association Research Roundtable.

Fiona received her doctorate in Neuroscience from the University of London (UK) and completed postdoctoral training in Neuroscience at Stanford University. Of her inspiration to study Alzheimer’s, she shares, “I chose to work in Alzheimer’s disease because it was one of the first neurological conditions where human genetics, molecular and cellular biology, and pathology converged to provide a molecular understanding of the disease. I also decided to build my career in industry because I enjoy working on projects bigger than anything I could do on my own, collaborating with a wide range of people, and ultimately developing medicines that can improve patients’ and caregivers’ lives.”

Nick Fox, MD, Professor of Clinical Neurology: University College London, United Kingdom

Nick Fox is Professor of Clinical Neurology at UCL’s Institute of Neurology and a consultant neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square where he runs a specialist cognitive clinic.

His clinical and research involvement with familial (autosomal dominant) Alzheimer’s disease dates from his first research fellowship, from the Alzheimer’s Society, as a neurology trainee. His research has maintained that focus on FAD and includes work using MRI and biomarkers for diagnosis and monitoring and to contribute to the search for effective therapies. He has been part of DIAN since its inception. He helped set up the first UK support group for FAD and for other “rare” dementias: young onset, inherited and less typical dementias. He co-leads Rare Dementia Support and has helped to establish the first Rare Dementia Support Centre to improve education about, and support for, people with dementia, their families and those who care for and about them. https://www.raredementiasupport.org/

Lindsay Hohsfield, PhD, Research Group Leader: Medical University of Innsbruck, Austria

Lindsay Hohsfield earned her Ph.D. in Neuroscience in 2014 and now leads her own research group at the Medical University of Innsbruck. Lindsay’s research interests center on developing effective therapeutic strategies for Alzheimer’s disease, with an emphasis on investigating and manipulating the immune system. Lindsay’s path to becoming an Alzheimer’s researcher began at age 18 when her father was diagnosed with the disease; since then, she has dedicated her time and career to studying Alzheimer’s disease. In 2020, she founded Youngtimers, an organization dedicated to improving the lives of individuals and families affected by DIAD through education, support, community, and research. In 2021, Youngtimers received its 501(c)3 nonprofit status. Lindsay also collaborates with DIAD research institutes working to address research barriers within the DIAD community, including implementing more patient/lived experience-centered research practices (e.g., fertility education, mental health support, etc.). In 2025, Youngtimers hosted the first US Food and Drug Administration Patient Listening Session for DIAD, advocating for disease awareness, trial design and increased treatment access for DIAD mutation carriers. Visit www.youngtimers.org to learn more. 

Johannes Levin, MD, Professor for Clinical Neurodegeneration: Ludwig Maximilian University of Munich, Germany

Prof. Dr. med. Johannes Levin is Professor for Clinical Neurodegeneration at the Department of Neurology, LMU Munich, and coordinator of clinical research at the German Center for Neurodegenerative Diseases (DZNE), Munich site. He is a neurologist who cares for people with neurodegenerative diseases and leads research on inherited forms of dementia and related brain diseases, including dominantly inherited Alzheimer’s disease (DIAD), genetic frontotemporal dementia, Parkinson’s disease and other conditions in which proteins misfold and accumulate in the brain. He serves as principal investigator for the Munich site of the Dominantly Inherited Alzheimer Network (DIAN), where his work focuses on following families over time, understanding the earliest biological changes of inherited Alzheimer’s disease, and using this knowledge to develop better prevention and treatment strategies.

In addition to his academic work, Johannes has direct experience in early-stage clinical development through his role as Chief Medical Officer at MODAG GmbH, a biotechnology company developing new treatments and diagnostic tools for diseases caused by harmful protein accumulation. At MODAG, he leads the clinical development strategy for the company’s programs, including emrusolmin/anle138b, a drug candidate designed to target early toxic protein aggregates, as well as new imaging tools such as PET tracers that may help detect disease-related proteins in the brain. His role includes shaping early clinical trials, choosing meaningful biological and clinical measures, working with investigators and partners, and ensuring that studies are scientifically rigorous, safe, feasible and relevant for patients and families.

Davide Mangani, PhD, family speaker: Switzerland

Davide Mangani is an immunologist scientist studying the immune system in relation to diseases. He earned a PhD in Cancer Biology from the University of Zurich and then specialized at Harvard Medical School in the United States. Alongside his academic career, he is an ultra-endurance athlete. He uses extreme sporting challenges as a vehicle for raising awareness about early-onset Alzheimer’s, tumors, and autoimmunity, transforming personal loss into a message of resilience and hope.

Eric McDade, DO, Barbara Burton and Reuben M. Morriss III Professor: WashU Medicine, United States

Eric McDade, DO is a professor of neurology at the Washington University School of Medicine in St. Louis. His research interests include the application of cerebrospinal fluid and neuroimaging measures to identify early pathology of Alzheimer’s disease with the ultimate goal of identifying early markers of Alzheimer’s disease progression that can be used in testing disease-modifying therapies.

Dr. McDade serves as the Co-Director of the Dominantly Inherited Alzheimer Network Trials Unit and the Clinical Core Leader of the Dominantly Inherited Alzheimer Network Observational Study, which uses a global, natural history study to develop prevention trials in dominantly inherited AD. As part of this work, he has co-led an initiative to comprehensively study the changes of soluble tau-related biomarkers and is the Principal Investigator of the first-ever primary prevention trial in familial Alzheimer disease, which will test whether preventing the development of amyloid plaques will prevent the development of dementia in those with a genetic form of the Alzheimer’s disease that leads to young-onset dementia.

Haruo Naito, KBE, Representative Corporate Officer & CEO: Eisai Co., Ltd., Japan

Dr. Naito received a BA in Faculty of Business and Commerce from Keio University in 1972 and an MBA from Northwestern University Kellogg School of Management in June 1974. He joined Eisai Co., Ltd. in October 1975 and has been President and CEO since April 1988. He was Vice President of the Japan Pharmaceutical  Manufacturers Association (JPMA) from May 1998 to May 2019, President of the International Pharmaceutical Manufacturers Associations (IFPMA) from November 2009 to November 2010, President of the Federation of Pharmaceutical Manufactures’ Associations of Japan (FPMAJ) and Chair of Dolder Group from May 2012 to May 2014, President of the Pharmaceutical Manufacturers’ Association of Tokyo and Vice President of the Federation of Pharmaceutical Manufactures Associations of Japan (FPMAJ) from June 2016 to June 2018, respectively.

He was conferred an honorary doctorate of science from UCL (University College of London) in July 2013. He was awarded an honorary CBE in April 1999 and KBE in April 2014 from the United Kingdom. He was awarded the Order of the Rising Sun, Gold and Silver Star in April 2025.

Ross Paterson, PhD, Principal Research Fellow: University College London, United Kingdom

Ross is a Principal Research Fellow at UCL Institute of Neurology and a practising clinical neurologist. He holds an honorary consultant neurologist position at the National Hospital for Neurology and Neurosurgery, Queen Square and he leads the specialist cognitive disorders clinic at Darent Valley Hospital in Kent. He is a visiting research at WashU Medicine and leads the programme of phase 1 studies at DIAN-TU, and is also a member of the SILQ Center.

His research group is interested in measuring the production and clearance of proteins in the brain, cerebrospinal fluid and blood, as a way of understanding disease mechanisms in neurodegenerative diseases such as Alzheimer’s disease, and as biomarkers of disease progression.

May Phillips, family speaker: United Kingdom

May Phillips is a former actress and daughter of award winning cinematographer Roger Pratt. She is a frequent research participant and advocate. After her father died, she was interviewed on Radio 4’s Today programme to talk about his disease and brain donation. May was involved in Walking in your footsteps, a knowledge exchange project funded by UCL Public Art’s Trellis:Arbor programme. She shared her story with The Sigrid Rausing Trust (who funded research) and more recently in a series of short films celebrating 75 years of the Institute Of Neurology.

Natalie Ryan, PhD, Senior Clinical Research Fellow: University College London, United Kingdom

Natalie Ryan is a Senior Clinical Research Fellow at the Dementia Research Centre, UCL Queen Square Institute of Neurology, and Honorary Consultant Neurologist with the Cognitive Disorders Service at the National Hospital for Neurology & Neurosurgery. Her clinical practice and research are both focussed on young onset and inherited dementias, especially autosomal dominant familial Alzheimer’s disease (FAD). A major focus of her research is to investigate variability in the clinical, neuroimaging and neuropathological features of FAD, to gain insights into underlying mechanisms and factors influencing risk and resilience. She has a particular interest in the role that vascular amyloid-beta deposition plays in the disease process, and development of more sensitive MRI methods to detect this.

She studied medicine at Cambridge University and Imperial College London and completed her PhD at UCL with Nick Fox. She has held an MRC clinical research training fellowship, Brain exit fellowship, University of London Chadburn Academic Clinical Lectureship and a clinical research fellowship with the DIAN team at Washington University in St Louis. In 2025, she was awarded an Alzheimer’s Association Clinician Scientist Fellowship and selected as the Fred and Barbara Erb Family Foundation Clinical Research Science Fellow for the Alzheimer’s Association. Her research has also been supported by funding from the Q Charitable Trust, Alzheimer’s Research UK, NIHR UCLH Biomedical Research Centre, the UK Dementia Research Institute at UCL through UK DRI Ltd., principally funded by the MRC, and the UCL Neurogenetic Therapies Programme, generously funded by the Sigrid Rausing Trust.

She co-founded the UK FAD support group with Nick Fox and Sebastian Crutch in 2010 and remains clinical co-lead for this group, now part of the umbrella organisation Rare Dementia Support. In 2023, she was awarded funding from UCL Public Art’s Trellis:Arbor programme to develop the knowledge-exchange project ‘Walking in your Footsteps’ with artist Briony Campbell and people from families affected by FAD, co-creating artworks to raise awareness of FAD and pay tribute to the enormous contributions that FAD families have made, and continue to make, to dementia research.

Pathology and Related Terms

• Pathology: The scientific study of the causes and effects of disease or injury. It can also be used to refer to the actual or predicted progression of a particular disease. “Alzheimer’s disease pathology” usually refers to the characteristic symptoms and other signs of Alzheimer’s.
• Amyloid Beta (Aβ): Short proteins that remain following the breakdown of APP. Aβ can chemically “stick” to itself to form plaques, which are one of the major hallmarks of a brain affected by Alzheimer’s disease. Research has shown that these plaques begin to form years before outward symptoms of Alzheimer’s are apparent and they are often targeted by experimental Alzheimer’s disease treatments. While scientists are still trying to fully understand normal Amyloid Beta function, the protein has been suggested to serve as a cell signaling molecule and play specific roles in immune response.
• Tau: Abnormal tau proteins can form “tangles” which are observed in the brains of Alzheimer’s disease patients. In addition to Amyloid Beta plaques, tau tangles are a common target of experimental treatments for Alzheimer’s disease. While Amyloid Beta normally builds up outside of cells, tau normally builds up inside of cells. Scientists are still working to understand normal tau function, but they know it is associated with cellular support structures, and that it is involved in the response of nerve cells to stimulation.
• Amyloid Precursor Protein (APP): APP is a gene that is the instruction set for a protein called Amyloid Precursor Protein. Amyloid Precursor Protein can be processed by cells into Amyloid Beta (Aβ), which is associated with Alzheimer’s. Rare genetic changes in the APP gene can make Amyloid Precursor Protein more likely to be processed into Amyloid Beta (Aβ).
• Presenilin 1, Presenilin 2 (PS1, PS2): The Presenilin genes (Presenilin 1 and Presenilin 2) are a part of the cellular machinery used to process Amyloid Precursor Protein into Amyloid Beta (Aβ). Rare genetic changes in the Presenilin genes can cause changes in the way that Aβ is processed, leading to either more Aβ overall, or leading to the production of stickier forms of Aβ.
• Apolipoprotein E (APOE): A gene that has common versions associated with risk for Alzheimer’s. There are three types of the APOE gene, called alleles (uh-LEE-ulls): APOE ε2, ε3, and ε4. Everyone has two copies of the gene and some combinations are associated with higher risk of AD. If an acquaintance hears you talking about Alzheimer’s genetics, they may bring up APOE because it is assessed on many direct-to-consumer genetic tests. While APOE is a very important gene at a population level and for risk of late onset Alzheimer’s, the effects of common versions of APOE for someone with dominantly inherited Alzheimer’s disease are minimal.
• Amyloid-Related Imaging Abnormalities (ARIA): changes in the brain that can be detected using MRI scans and are often associated with certain treatments for Alzheimer’s disease. ARIA-E stands for Amyloid-Related Imaging Abnormalities – Edema/Effusion. This type involves swelling or fluid leakage into the brain tissue. ARIA-H, on the other hand, stands for Amyloid-Related Imaging Abnormalities – Hemosiderin. This type involves tiny bleeds or iron deposits resulting from blood breakdown within the brain. Both types of ARIA can provide important information for clinicians managing Alzheimer’s treatments and understanding their effects on the brain.

Research Group Terms

• Dominantly Inherited Alzheimer Network (DIAN); also referred to as the DIAN Observational Study (DIAN Obs): A large research group established in 2008 at Washington University in St. Louis, MO, USA and now has more than 20 sites worldwide. DIAN sites work directly with individuals and families who are impacted by DIAD or who are at risk for developing the disease.  This international network evaluates participants at entry and over time with standardized clinical and cognitive testing, brain imaging, and biological fluid collection (blood, cerebrospinal fluid) with the goal of determining the sequence of changes in pre-symptomatic gene carriers who are destined to develop AD. Another goal is to establish a research database and tissue repository to support research by other investigators around the world.

• DIAN Trials Unit (DIAN-TU): The TU conducts clinical drug trials with the goal of finding treatments that can successfully slow or prevent the effects of Alzheimer’s disease. Members of families affected by DIAD are valuable drug trial participants due to the fact that the course of DIAD is largely predictable, making it easier to see if a treatment is having a beneficial effect.
• DIAN Expanded Registry (DIAN EXR): The goal of the EXR is to act as outreach to find potential participants for DIAN research projects and establish connections with researchers who may be interested in working with DIAN. The EXR also works to make genetic counseling and testing available to families who are suspected of having a DIAD mutation and to keep registrants updated on research progress.
• Ambulatory Research in Cognition (ARC): A smartphone app used in several DIAN studies aimed at collecting cognitive assessment data remotely. The goal of ARC is to collect cognitive data at more time points and in research participants’ daily environment while also reducing the burden of having to come to a lab location for cognitive testing.
• Cognitive Run-In (CRI): Participants who enroll in the DIAN-TU prior to selection of the next experimental drug are in the cognitive run-in (CRI) period of the trial. They are not receiving any drug treatment but are providing cognitive assessment and other types of data to be used as a baseline reference point once experimental drug treatment begins.
• Open-Label Extension (OLE): An extension of clinical trial drug treatment where both research participants and staff know what type of treatment the participants are receiving. An OLE may be warranted after the end of a drug trial if researchers have reason to believe that continuing active drug treatment could have a beneficial effect for the participants. During an OLE period, participants who were being treated with placebo switch to the active drug.
• Pharma Consortium: A group of pharmaceutical companies and research institutions that collaborate to advise on the design and implementation of DIAN-TU therapeutic trials.

Genetics Terms

• Gene: A sequence of molecules that serve as a blueprint for making proteins or other molecules that comprise living organisms. Genes occur on each chromosome and determine the traits (such as hair or eye color) that an organism expresses or is capable of passing along to offspring. Genes are described as either recessive (a gene for the characteristic is present, but not expressed if a different, dominant gene is present) or dominant (if the gene is present, the characteristic will be expressed).
  • For example, if a human has one dominant gene for brown hair and one recessive gene for blonde hair, that person will have brown hair (brown hair is expressed), but could have a child with blonde hair (if the child inherits one blonde hair gene from each parent).
• Chromosome: Structures within the cells of an organism that contains the organism’s blueprint. Most humans have 46 chromosomes, organized in pairs (23 chromosomes inherited from each biological parent).
• Genetics: A branch of biology concerned with the study of genes, DNA alterations, and how disease is inherited.
• Genetic counseling: The process of advising individuals and families affected by, or at risk for, genetic disorders to help them understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
• Epigenetics: In biology, epigenetics is the study of inherited characteristics that do not involve alterations in the DNA sequence. Examples of epigenetics change includes DNA methylation and histone modification, each of which alters how genes are expressed without altering the underlying DNA sequence.
• Genomics is the large-scale study of the genome (all DNA sequence within an organism, including sequences that code for genes, and those involved in regulating genes). Genomics is a branch of biology concerned with evolution, structure, function, and mapping of the genome.  While genetics usually refers to how changes in your DNA affect different characteristics, genomics is a more comprehensive term that can include additional categories, like how genes are turned on and off (e.g., things that control what makes a brain cell a brain cell instead of a skin cell), or ways that environmental influences can affect how much protein is ultimately produced from a given gene.
• Proteomics is the large-scale study of proteins. Proteins are vital parts of living organisms, with many functions such as the formation of structural fibers of muscle tissue, enzymatic digestion of food, or synthesis and replication of DNA. In addition, other kinds of proteins include antibodies that protect an organism from infection, and hormones that send important signals throughout the body.
• Autosomal Dominant: An autosome is any chromosome that is not associated with the male or female sex specifically (i.e., not “sex-linked”). Autosomal dominant refers to how a gene or disorder is passed down. An autosomal recessive disorder requires two mutations for an individual to be affected.
• Dominantly Inherited Alzheimer’s Disease (DIAD)/Autosomal Dominant Alzheimer’s Disease (ADAD): A rare form of early-onset Alzheimer’s disease caused by known gene mutations that are inherited/transmitted within families. “Early-onset” is usually defined as the occurrence of noticeable symptoms prior to the age of 65. Since the gene is dominant rather than recessive, the presence of only one copy of the mutated gene means a person will become symptomatic. A parent who has a gene mutation for DIAD will be affected by the disease and have a 50% chance of passing it on to each child.
• Whole Genome Sequencing (WGS): Whole genome sequencing is a technique used to read the entirety of an individual’s DNA. When comparing the genomes of two individuals, millions of genetic differences can be detected. Some of these genetic differences determine things like height and eye color. Other genetic differences are associated with diseases. By reading all of the DNA for thousands of people, scientists can find new associations between changes in genes and disease, or how genetic changes may influence how a disease progresses.
• Induced pluripotent stem cells (also known as iPS cells or iPSCs) are a type of multifunctional stem cell that can be generated directly from a somatic cell, such as skin or blood cells. Pluripotent stem cells hold promise in the field of regenerative medicine. These cells can reproduce indefinitely, as well as give rise to every other cell type in the body (such as neurons, heart, pancreatic, and liver cells), and have been used to model complex disease, like Alzheimer’s disease.

Other Scientific Terms

• Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR): a collection of tools to edit DNA. The most common applications are to either to cut DNA and eliminate an entire gene, or to replace one piece of DNA with another and change a gene. CRISPR has significant therapeutic potential for treating diseases that are due to faulty DNA codes (mutations) with a one-time application.  
• Computed Tomography (CT) Scan: A medical imaging procedure that combines X-rays from many different angles to make a cross-sectional view of the scanned object.
• Magnetic Resonance Imaging (MRI) Scan: A medical imaging procedure that uses a strong magnetic field to produce images of anatomy. Some atoms in the body (like hydrogen) emit radio frequencies when exposed to the magnetic field. The frequencies can be picked up and used to generate images of internal structures like the brain.
• Positron Emission Tomography (PET) Scan: A medical imaging procedure that uses a special dye containing radioactive tracers. The tracers may be swallowed, inhaled, or injected into a patient’s vein, depending on what part of the body is being examined. Certain organs and tissues then absorb the tracer and can be detected by a PET scanner.
• Stem cells: A cell with the potential to form many of the different cell types found in the body. When stem cells divide, they can form more stem cells or other cells that perform specialized functions. Embryonic stem cells have the potential to form a complete individual, whereas adult stem cells can only form certain types of specialized cells. Stem cells continue to divide as long as the individual remains alive. Stem cells are important for research because they can be used to create cells that otherwise could not be studied in the lab, such as human neurons. Recent scientific advances have made it possible to take cells that have already turned into a final type of cell, such as a skin cell, and return them to a stem cell so that they can then be turned into a different type of cell, such as a neuron. For this reason, many research studies may take a punch of skin cells for use in experiments in the lab.
• Intrathecal: Intrathecal administration of a drug means that the drug was injected directly into the spinal canal or the space between membranes that surround the brain.