2026 DIAD Family Conference Materials

Speaker & Panelist Biographies

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Glossary of Scientific Terms
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.