Inside AJHG: A Chat with Alan Beggs

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Alan Beggs to discuss his paper ‘Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project’.

Several members of the BabySeq research team
Several members of the BabySeq research team, including (L to R) Katie Dunn, Casie Genetti, Ingrid Holm, Alan Beggs, Robert Green, and Pankaj Agrawal. (courtesy of Dr. Beggs)

AJHG: What prompted you to start working on this project? 

Alan: It is well established that genomic sequencing of individuals with a likely genetic disease has clear and recognized benefits that easily outweigh the risks and costs.  However, we are just beginning to appreciate the potential benefits and costs of prospectively sequencing healthy individuals. There is a lot of hope around the prospects for disease prediction, presymptomatic diagnosis, carrier detection, pharmacogenomics and other potential benefits of genomic sequencing, and an equal amount of concern around the risks of misuse of genetic information, misinterpretation of probabilistic results or negative personal impacts such as anxiety, increased family stress or loss of trust that such information might engender.

The NIH Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) program was conceived to explore the implications, challenges, and opportunities of genomic sequencing in the newborn period. Together with our colleagues here in Boston, and in Houston, Robert Green and I designed the BabySeq Project to experimentally measure the medical, behavioral, and economic outcomes by prospectively sequencing both healthy and sick newborns and then following the consequences of returning results to them, their physicians and to their medical records.

AJHG: What about this paper/project most excites you? 

Alan: Although thousands of both healthy and sick individuals have undergone genomic sequencing by now, BabySeq represents one of the first prospective, randomized controlled trials of sequencing for which disease detection was not a primary goal. By enrolling newborn participants regardless of their medical status we can achieve one of the less biased comparisons within a human population. Although our sample size is modest, we were surprised to find in the sequencing arm that 9.4% of the infants, including ten of 127 healthy newborns, harbored what we considered to be a monogenic disease risk alleles, in other words, genetic variants that are predicted to cause disease using current best practices for determining disease-gene association and variant interpretation. Such a high rate of predicted genetic morbidity suggests either that we currently underestimate genetic contributions to common disorders such as heart disease or cancer, or that our variant predictions of pathogenicity or assumed disease gene penetrances are over estimated.

I think the randomized controlled aspect of this study is something else that excites me. It is providing an important opportunity for Amy McGuire and her team at Baylor to more rigorously assess the psychological and social implications of having genomic information at an early age. Funding permitting, we aim to follow the BabySeq families in both the sequenced and control arms well beyond the one-year follow-up surveys currently in progress, and I expect that we will be able to provide some hard data to address some of the concerns surrounding potential negative implications of learning genetic information.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Alan: This is a difficult question to answer!  Of course, just about everyone who has interviewed me has asked whether I think sequencing of newborns will become standard of care. The first point I make is that, for the foreseeable future at least, we absolutely do not view this as a replacement for traditional newborn screening, which targets a carefully chosen group of treatable diseases using tests with well-established and high degrees of sensitivity and specificity.

There is no question in my mind that rapid genomic testing is indicated for newborns with undiagnosed medical conditions that may have a genetic basis, and it is gratifying to see that geneticists and neonatologists are rapidly adopting this, and that third part payers are finally starting to come around and reimburse for this. Although I’m confident the data will eventually show that the risks of newborn sequencing in healthy infants are acceptably low, the benefits will be harder to establish and are likely to be uneven: most newborns will not have immediately actionable findings, but identification of carrier states will occasionally lead to identification of couples at-risk for future pregnancies, and presymptomatic diagnosis of even untreatable conditions such as Duchene muscular dystrophy, will help some families avoid having affected children in the future. Occasionally, and with increasing frequency, an early diagnostic finding will lead to potentially life saving interventions or surveillance, as in the case of the families we identified with variants for hereditary cancer syndromes. As our understanding of disease-gene associations and variant interpretation improves, more and more children will stand to benefit from such information.

The newborn period is a hectic and disruptive time for new families, so I think genomic sequencing for healthy babies is more likely to be eventually offered in late infancy or early childhood, much like many vaccinations are offered today. Before this happens though, it will be up to us, the professional genetics community, to engage with our colleagues, legislators, third party payers, and most importantly the public, in a discussion to determine when the broader societal benefits justify the risk and the costs, and to ensure that genetic information is protected to avoid misuse and discrimination.

AJHG: What advice do you have for trainees/young scientists?

Alan: Follow your heart and pursue the questions that excite you, but be mentally flexible and look for opportunities to work with outstanding scientists who will appreciate and support your efforts. Early in my postdoctoral career, my advisor passed away suddenly and I was faced with a career-altering dilemma. I was fortunate to find an outstanding new mentor in Dr. Lou Kunkel, and my career path shifted abruptly to focus on neuromuscular disease, and eventually genetics and genomics of rare diseases.  Science, and society, are constantly evolving, so put aside your preconceived notions of what “should” or “will” happen, and follow the data and opportunities wherever they lead.

AJHG: And for fun, tell us something about your life outside of the lab.

Alan: I like learning about new things, so I tend to be a generalist with broad interests who enjoys tinkering and trying different things. I’m not an expert in any one area, but I’ve dabbled in woodworking, I like repairing broken things, from dishwashers to lawnmowers (YouTube is great for that!), and I’ve got a killer fish tank at home. I also love to be outdoors, and I’m just as happy raking leaves, cleaning my gutters, or shoveling snow in the middle of the night as I am kayaking or skiing.

A longtime ASHG member, Alan Beggs, PhD, is Director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital and the Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School. 

ASHG-AJHG Webinar Summary: Therapeutic Developments in Genetics

Posted By: Staff

Therapeutic developments in genetics is quickly becoming a key area of interest for many in the field. Earlier this month, ASHG co-hosted a webinar with The American Journal of Human Genetics (AJHG) to discuss the process from discovering a genetic mutation for a disease, to developing a therapy. AJHG Editor Bruce Korf moderated, and was joined by two expert panelists Susan Slaugenhaupt, PhD of Massachusetts General Hospital and Harvard Medical School, and Matt Alexander, PhD of the University of Alabama at Birmingham and Children’s of Alabama.

Susan presented her work on developing a drug to modify RNA splicing in a rare disease known as Familial Dysautonomia (FD), which has been a 25-year effort. FD currently has no cure, or pharmaceutical treatment, and the only method of care is symptomatic treatment.

FD has a plethora of symptoms including impaired smell, failing vision, imbalance, organ dysfunction and several others. Susan explained that while this disease affects few globally, “A significant number of human mutations have been shown to alter RNA splicing, and RNA splicing is something that we can target.” She continued to elaborate that “As we think about developing drugs for RNA splicing, they may prove useful in a whole variety of diseases.”

While the science of the disease is pivotal to discovery, Susan reminds us that the “how to,” for the process is just as important. Below is a timeline showing when her laboratory received the National Institutes of Health (NIH) funding, and how they advanced the translational research project from that point (picture below).

NIH funding chart webinar
Timeline provided by Dr. Slaugenhaupt

Going through the timeline, Susan explained that her team discovered kinetin (6-furfurylaminopurine), a plant growth factor, caused a change in RNA splicing as the amount of kinetin was increased. As Susan’s team continued, they eventually found that while kinetin was not potent enough to act as a drug, it was a good starting point to find new splice modulator compounds. For a complete explanation of Susan’s research and what this discovery meant for FD research, please watch the full webinar.

Matt presented on the advances in genetic based drugs for Duchenne Muscular Dystrophy (DMD), and the difficulties in working with neuromuscular diseases.

The DMD mutation is an X-linked recessive inheritance, and thus largely affects males. Approximately 1 in 5,000 live male births are affected. DMD causes the muscles in the shoulder, upper arm, hips, and legs to deteriorate. Patients present signs typically between ages 3-5 and are often in wheelchairs by age 13. Matt added that, “A really underappreciated aspect of the disorder is that approximately 20-25% of DMD boys are diagnosed with autism spectrum disorder.”

There are several therapeutic approaches to aid DMD patients currently being investigated, however Matt specifically discussed exon skipping drugs, CRISPR, and current gene therapy trials. These efforts, are essentially done in hopes of seeing a partially functional dystrophin protein, which would lessen the severity of the disease. The full webinar further discusses models used to test these approaches, and their possible side effects.

Matt additionally noted that when dealing with gene-based therapies for DMD it’s pivotal to have “really good biomarkers and quantification tools to indicate the amount of dystrophin protein being produced,” to accurately show the effectiveness of gene-based therapies.

The webinar concluded with a Q&A portion with questions from the audience. To stay up to date on our next webinar with AJHG, follow us on social @GeneticsSociety.

Inside AJHG: A Chat with Vijay Sankaran

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month, we check in with Vijay Sankaran to discuss his paper, “The Genetic Landscape of Diamond-Blackfan Anemia.”

AJHG: What caused you to start working on this project?

Vijay Sankaran, MD, PhD
Vijay Sankaran (photo courtesy Dr. Sankaran)

Vijay: When exome sequencing was starting to be done routinely around 2009, we reasoned that Diamond-Blackfan anemia would be an ideal disease to study using this approach. At the time, only a few ribosomal protein mutations had been described in this disease and we thought that such sequencing approaches could help us better define the pathogenesis of this disorder. We did identify some non-ribosomal protein mutations through focused efforts (e.g. GATA1), but we kept sequencing more individuals to more comprehensively define the genetic landscape of this blood disorder. This paper describes the comprehensive analysis of the full cohort of individuals we studied.

AJHG: What about this paper most excites you?

Vijay: There are three things that excite me most about this work. First, this paper is really the culmination of several years of incredibly hard work by a number of talented trainees in our group, as well as fabulous colleagues. It is great to see their work put together and presented so nicely. Second, I think this analysis can serve as a model for other systematic studies in cohorts of individuals with a range of rare diseases. It provides a framework for thinking about how to perform comprehensive analyses in rare disease cohorts, while also illustrating major challenges in trying to define genetic etiologies. Third, I think the work nicely outlines the future directions we hope to take to better define the genetic causes for the remaining ~20% of cases and understand the basis for the variable penetrance observed.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Vijay: We have examined a rather large cohort of ~470 individuals with a rare disease that occurs in ~1 in 200,000 live births. This cohort took many years to put together and required extensive international collaborations. Despite the considerable size of this cohort (for a rare disease), we still could not define the potential genetic etiology for a number of individuals in the cohort. Our burden analyses nicely show how we are sufficiently powered to detect mutations in the exome that explain > 5% of cases in the cohort. Given all of this, our findings emphasize the need for larger analyses of such rare diseases. This can only happen through collaboration. Different investigators need to be willing to come together to maximize our ability to identify additional genetic causes for rare diseases. While many in the human genetics community appreciate the importance of such efforts, I still find that many colleagues in my clinical field and others are hesitant to share data. As a physician, I realize that doing so is critical for all patients and individuals affected by rare diseases.

AJHGWhat advice do you have for trainees/young scientists?

Vijay: Probably the most useful advice I can offer is that any trainee should pursue problems and work in environment where they can most enjoy their work. I have been incredibly fortunate to work in environments, both as a trainee and faculty member, where I have been given the freedom to pursue problems I am passionate about. As a result, I have also tried to create an environment in the lab that can enable trainees to do the same, which I believe is very important.

AJHG: And for fun, tell us something about your life outside of the lab.

Vijay: One of the things I enjoy outside of lab is exploring the fantastic restaurants in Boston and listening to jazz music (particularly when it is live).

Vijay Sankaran, MD, PhD, Assistant Professor of Pediatrics at Harvard Medical School and an Attending Physician in Hematology/Oncology at Boston Children’s Hospital and the Dana-Farber Cancer Institute. He has been an ASHG member since 2016.

H.R. 7083: Improving Access to Genetic Counseling

Posted By: David L. Nelson, 2018 President

Genetic counseling is an integral part of advancing human genetics in medical care and vital to our collective research agenda. Recognizing this, ASHG took action last week in strong support of H.R. 7083, the Access to Genetic Counselor Services Act of 2018, which would expand access to genetic counseling services for Medicare beneficiaries. We took this action under the leadership of the National Society of Genetic Counselors (NSGC), and are proud to add our largest voice in the human genetics community to urge this policy change. NSGC is our valued partner on this legislation and other new programming to serve genetic counselors in research.

Specifically, I wrote to bill sponsors Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA) expressing the Society’s gratitude for introducing this legislation and for seeking to resolve a problem that has existed for many years (see image). Currently, while genetic counseling is covered under Medicare, genetic counselors themselves are not currently recognized as providers by the Centers for Medicare and Medicaid Services, the federal agency that runs the program. This means that genetic counselors are unable to bill directly for any services rendered to Medicare beneficiaries.

The letter written by David Nelson, PhD, ASHG President, to U.S. Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA).
The letter written by David Nelson, PhD, ASHG President, to U.S. Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA).

H.R. 7083 is designed to resolve this coverage gap. If it were to become law, this bill would recognize licensed genetic counselors as Medicare healthcare providers, and further establish a path for Medicare reimbursement for other genetic counselors.  In this way, it will reduce the access issues to genetic counseling services currently faced by Medicare beneficiaries.

For this bill to become law, it will need to be passed by Congress in the next few days.  Given the many steps in the legislative process, this is highly unlikely.  However, we hope that the legislation is re-introduced when the Congress reconvenes next year and that Congress advances it swiftly through the legislative process.

To receive updates regarding progress of this bill and on other issues, I urge you to sign up as an ASHG Advocate if you have not already done so.

David L. Nelson, PhD, is the 2018 President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.

Legislation Funding NIH Also Protects Genetic Privacy of Vulnerable Families

Posted By: Nikki Meadows, PhD, 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow 

Buried within the legislation establishing funding for the National Institutes of Health for Fiscal Year (FY) 2019 (H.R. 6157) is a little-reported provision to protect the genetic privacy of immigrant family members. Congress often uses the annual appropriations bills to direct federal agencies on how to proceed on a particular activity or to commission a report about a particular topic. This provision, proposed by Representatives Marcy Kaptur (D, OH-09) and Katherine Clark (D, MA-05), is one such directive.

The U.S. Capitol Building
The U.S. Congress gave some attention to genetic privacy through the annual budget. (courtesy the Architect of the Capitol)

In April, the Department of Homeland Security (DHS) began enforcing an existing family separation policy with the stated goal of stemming what DHS and other related agencies perceived to be a rise in illegal immigration at the U.S.—Mexico border. As was widely reported in the media, children were separated from their parents or legal guardians at the border and placed in the custody of the Department of Health and Human Services’ (HHS’s) Office of Refugee Resettlement (ORR), while the parents and legal guardians were held in criminal detention. In response, many members of Congress and the general public demanded reunification of these families, and in June a federal judge ordered that the more than 2,500 children in ORR custody be reunited with their families.

Family Reunification Involved Genetic Testing 

To help reunite young children with their families by the July 5 deadline, HHS began using DNA testing to verify parentage. However, HHS provided few details regarding the testing, such as who was being tested, which labs were involved in performing the tests, and what testing was being performed. Importantly, there was also a lack of clarity regarding whether individuals were consenting to such testing, how HHS was protecting individuals’ genetic privacy, and how the test results could be used.

The provision added by Reps. Kaptur and Clark was designed to address some of these concerns. It directs ORR to “ensure the protection of privacy and genetic material, data, or information of children, parents, and of all individuals being tested and their relatives.” It also requires consent prior to collection and sample destruction once testing has concluded.

ASHG Applauds Kaptur and Clark for their Attention to Genetic Privacy 

ASHG was very supportive of this provision, and President David L. Nelson sent letters to Reps. Kaptur and Clark thanking them for their “leadership in advancing measures to ensure individuals’ genetic privacy as immigrant families seek to be reunified.” He wrote that “…an individual’s genome includes information on his or her risk for disease, their ancestry, and their relatedness to others, [so] it is important that we protect the genetic privacy of people tested.” He went on to further say that “genetic analysis should be restricted to the explicit purpose for which a person is being tested.”

ASHG’s support for this provision is the latest way in which the Society is championing measures to protect individuals’ genetic privacy. ASHG is a strong supporter of the Genetic Information Nondiscrimination Act (GINA), which among its provisions protects genetic privacy related to employment and health insurance, as well as a similar law in Canada. It also supports provisions in the 21st Century Cures Act strengthening participant privacy in research. The Kaptur/Clark amendment extends some privacy protections to those seeking reunification and ensures that federal agencies cannot use their genetic information for any purpose beyond reunification.

Nikki Meadows, PhD, is the 2017-18 ASHG/NHGRI Genetics & Public Policy Fellow. For more information on ASHG’s policy and advocacy programs, please visit the Policy & Advocacy webpage. 

Build a Cohesive and Competitive Invited Workshop: Here’s How

Posted By: Kiran Musunuru, 2019 Chair, ASHG Program Committee

20181119_Kiran
Kiran Musunuru, 2019 Chair, ASHG Program Committee

On the heels of our successful 2018 meeting, the Program Committee is soliciting invited session and workshop proposals for ASHG 2019, taking place October 15-19 in Houston. Proposals are due on December 13, which is just over three weeks away.

One of the highlights of the meeting for me are the interactive invited workshops, which help me stay up-to-date on the latest research tools that I can use in my own work, as well as keep me informed about and engaged in pressing issues in human genetics. Today I will share some tips on how to build a cohesive, competitive invited workshop proposal that will be well received by the Program Committee and, if accepted, the attendees of the workshop. If you are looking for advice on invited session proposals, see last year’s blog post.

What are Invited Workshops?

An Interactive Invited Workshop is an educational or instructional event that relates to scientific scholarship, research tools, new technologies, skill development, or public information related to science. If you are looking to organize a session to address the state of the science on a specific topic, you may want to submit an invited session proposal instead.

Tip: Craft your session to benefit attendees.

Take this opportunity to write a clear description of the intended workshop with realistic goals to accomplish in 90 minutes. The average workshop participant is relatively unfamiliar with the tool or skill being taught, and the workshop goals should be conceived and communicated accordingly. A good strategy is to cover two to three main concepts and, if in doubt, err on the side of more basic learning outcomes.

If you want to target a more advanced audience, remember to be explicit about what prior knowledge you will expect of participants, and stay away from words like “introduction” and “primer” in the workshop title to avoid confusion.

Tip: Plan for a crowd.

It can be challenging to maintain interactivity with up to 200 attendees at your workshop! I recommend you recruit help from knowledgeable colleagues who can either co-present or float throughout the room to help participants who are falling behind. Depending on the complexity of the skill or software, four to six workshop leads should be sufficient.

To support your ability to recruit a team to oversee the workshop, ASHG offers complimentary meeting registration for up to two workshop presenters, as well as an extra four complimentary workshop tickets for any additional experts you invite.

Tip: Workshops can be low-tech.

Despite the increased use of computers and other technologies in the lab and clinic, there is a desire for skill-based workshops. Past programs have included workshops on improving clinical communication with patients and exploring how to accurately and sensitively capture demographic data in research studies. Such workshops can build great connections between attendees. Just be sure to avoid a series of lectures from a panel, which would be better suited to an invited session.

Tip: Improve upon past experiences.

If you have run a similar workshop before, either at a previous ASHG Annual Meeting or another venue, be sure to address past challenges. For example, if too many participants thought the workshop pace was too fast, you may wish to reduce the amount of content covered, pair attendees for the demonstrations, or recruit additional floaters to help keep everyone on track. There will be space on the proposal form to include past participant feedback. Of course, new workshop organizers are always welcome and encouraged.

Want more tips? Watch our video on how to craft a competitive invited workshop proposal.

20181119_IW-video
Top 5 tips to craft an Invited Workshop proposal: Watch!

Kiran Musunuru, MD, PhD, MPH, 2019 Program Committee Chair, is an Associate Professor of Cardiovascular Medicine and Genetics, and the Director of the Cardiovascular Institute’s Genetic and Epigenetic Origins of Disease Program, at the Perelman School of Medicine at the University of Pennsylvania.

Inside AJHG: A Chat with Jonathan Mill

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG 

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month, we check in with Jonathan Mill to discuss his paper, “Leveraging DNA-Methylation Quantitative-Trait Loci to Characterize the Relationship between Methylomic Variation, Gene Expression, and Complex Traits.”

20181127_AJHG-JonathanMill
The Mill lab (photo courtesy of Dr. Mill).

AJHG: What caused you to start working on this project? 

Jonathan: Our lab studies the genomic basis of complex human diseases, and we’re particularly interested in the mechanisms underpinning transcriptional regulation. The last decade has seen tremendous advances in understanding the role of common genetic variation in health and disease, but genome-wide association studies (GWAS) don’t always identify specific causal genes, and we know that the variants associated with disease are likely to influence gene expression rather than causing changes to the transcribed protein. We have been quantifying genetic and epigenetic variation in large numbers of samples and have been thinking about ways of integrating these datasets to fine-map GWAS regions.

This project built on our previous work using DNA methylation quantitative trait loci (mQTLs) to interpret the functional consequences of common genetic variation associated with neuropsychiatric disease and other human traits. We generated blood mQTL data in the Understanding Society UK Household Longitudinal Study (UKHLS) and used these to refine genetic association data from publicly available GWAS datasets in order to prioritize genes involved in complex traits and diseases. We also sought to identify pleiotropic relationships between DNA methylation and variable gene expression by using publicly available whole-blood gene expression QTL (eQTL) data.

AJHG: What about this paper most excites you? 

Jonathan: First, we have generated an extensive mQTL dataset, using the new Illumina EPIC DNA methylation array to identify over 12 million associations between genetic variants and DNA methylation sites, including a large number not identified by previous DNA methylation-profiling methods. We show that there are many instances of shared genetic signals on neighboring DNA methylation sites and that these associations are structured around both genes and CpG islands. We hope these will be a valuable resource for the genetics community, and our data can be downloaded from our website.

Second, we demonstrate the utility of these data for interpreting the functional consequences of common genetic variation associated with human traits by using summary-data-based Mendelian randomization (SMR) to identify >1500 pleiotropic associations between complex traits and DNA methylation sites. Finally, we use these data to explore the relationship between DNAm and gene expression by using genetic instruments rather than correlations to infer associations between specific DNA methylation sites and genes.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Jonathan: Our results add to an increasing body of evidence showing that genetic influences on DNA methylation are widespread across the genome. We show that integrating these relationships with the results from GWAS of complex traits and genetic studies of gene expression can improve our understanding about the interplay between gene regulation and expression and facilitate the prioritization of candidate genes implicated in disease etiology.

AJHG: What advice do you have for trainees/young scientists?

Jonathan: Most importantly, pick a subject you are passionate about and make sure your science continues to be fun! The biggest and best-funded labs are not necessarily the best places to train; research is all about teamwork and collaboration, and to me, these are key attributes that trainees and young scientists should look for in selecting a place to study and learn. Don’t be afraid to be wrong, and you should never worry about questioning your supervisor or mentor; I have learned so much from the exceptional postdocs and students in my lab who generally know a lot more than I do! Finally, make sure you keep a good work-life balance; it’s important to switch off and realize there is more to life than grant funding and papers.

AJHG: And for fun, tell us something about your life outside of the lab.

Jonathan: I live in a small fishing village on the Devon coast just outside Exeter in the UK. When I’m not trying to understand gene regulation in the brain, I spend a lot of time in my allotment attempting to grow enormous vegetables. I also cycle a lot, and last year rode to Paris from the UK along with Eilis Hannon (first author on this paper) to raise money for the amazing Alzheimer’s Society who fund our work into dementia.

Jonathan Mill, PhD, is a Professor of Epigenetics at the University of Exeter and Psychiatric Epigenetics at Kings College London.