2024 EBF3 HADDS International Conference Program

EBF3 HADDS International Conference

Jan & Dan Duncan Neurological Research Institute

July 24-26, 2024 Houston, Texas

Welcome to Houston!

Thank you for joining us at the third EBF3 HADDS International Conference! We hope this week will provide you with new knowledge about HADDS, help to build strong connections with other HADDS families, and energize you about the exciting developments underway in education, community building, awareness, and research!

We have 56 families and over 200 people joining from seven countries around the world, both in person and virtually. The next few days will likely be informative, fun, emotional and busy! We encourage everyone to take advantage of the short time together as our next conference in Houston won’t be until July 2026.

Please let us know if you have questions/concerns about the conference or exploring Houston—we want to ensure you have a wonderful time!

EBF3 HADDS Foundation, Board of Directors

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Conference Center Map The Conference Center is located on the 7th Floor.

There are stairs next to the Registration desk that connect to the auditorium’s balcony.

All participants that submit a testimonial will be entered to win a Visa Gift Card!

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Conference Rules Please be respectful of other conference attendees by being quiet during the conference sessions.

Please no eating or drinking in the Auditorium. Lunches will be served in the lobby area of the 7th floor. You may use the additional conference rooms or lobby lounge area for eating and socializing.

We have several folks with peanut allergies. Please do not eat or open any food that has peanuts in NRI. TCH/NRI: Attendees must be vaccinated. Masks are not required in the conference center.

Please no audio recordings and/or filming of the conference sessions. Recordings will be available for viewing after the conference on HADDS.org and our YouTube channel.

If you need a break, we have a quiet room located on the 7th floor outside the Auditorium or have an upper balcony for more space.

The NRI & TCH buildings are part of a smoke-free campus

Additional Questions?

Visit the registration desk, ask a HADDS board member and/or anyone with the bright yellow ‘ASK ME’ volunteer button.

You can also email info@hadds.org. We will be checking email throughout the conference.

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Schedule of Events Wednesday, July 24 8:00 AM

NRI – 7th Floor

9:00 AM

NRI Auditorium

Welcome Kick Off

Board of Directors

9:15 AM

NRI Auditorium

HADDS and 10q26 Deletion Syndrome Overview

Dr. Hsiao-Tuan Chao

10:00 AM

NRI Auditorium

Genetics 101 & Beyond

Dr. Michael Wangler/ Haley Streff MS, CGC

11:00 AM

NRI Auditorium

Understanding Your Child's Bladder and Kidney Tests

Dr. Irina Stanasel

Registration, Breakfast & Childcare Drop Off

Conference Center Lobby – Lunch

12:00 PM

1:00 PM

NRI Auditorium

The Psychopharmacology of Comorbid Behavioral Disorders/Symptoms in HADDS

2:00 PM

NRI Auditorium

Orthopedics: Scoliosis & Spine Interventions

3:00-3:15 PM

Dr. Christopher McDougle

Dr. Margaret Baldwin

Break

3:15-4:30 PM

Various Rooms (See Signs)

Social Break Out Sessions: Mom, Dad, Grandparent, etc.

Conference Attendees

4:00-5:30 PM

Meeting Room

Pre-scheduled Meet & Greet Appointments

Dr. Hsiao-Tuan Chao & Dr. Michael Wangler

6:00 PM

Hilton Houston Medical Center Pool

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Pool Party (Snacks/Drinks)

Thursday, July 25 8:00 AM

Registration/Childcare/Breakfast

9:00 AM

NRI Auditorium

Speaking of Speech...

Parents as Partners for Communication Success!

10:00 AM

NRI Auditorium

Panel with Q&A

HADDS Global Panel

11:00 AM

NRI Auditorium

EBF3-related Disorders Research Study

Drs. Chao/ Kochel/LeMaire

12:00 PM

Karyn Shelnutt, MCD, CCC-SLP

Conference Center Lobby – Lunch

12:45 PM

NRI Auditorium

Group Photo & Research Donation Ceremony

EBF3 Foundation, Dr. Chao & Texas Children’s Advancement Office

1:00 PM

NRI Auditorium

HADDS: The Ophthalmic Perspective

Dr. Erica Luse

NRI Auditorium

Top Ten Things a Parent Should Know about Special Education

Sylvia Farber, M.Ed.

2:00 PM

Break

3:00-3:15 PM

3:15-4:00 PM

4:00-5:30 PM

NRI Auditorium

Meeting Room

Perioperative Anesthesia Implications and Considerations in Children with HADDS

Nita Sahani, MD, MHQS

Pre-scheduled Meet & Greet Appointments

Dr. Hsiao-Tuan Chao & Dr. Michael Wangler

6:00 PM

Hilton Houston Medical Center Pool Deck

HADDS Howdy Hoe Down!

Friday No Lecture

Friday Lab Tours: Prior Sign Up at Reg Desk

Reg Desk - 7th Floor NRI

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Conference Speakers

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Hsiao-Tuan Chao, M.D., PH.D. Assistant Professor of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine Appointed McNair Scholar October 2018 at Baylor College of Medicine Dr. Hsiao-Tuan Chao is a member of the faculty at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital (TCH) and Baylor College of Medicine (BCM). She received her M.D.and Ph.D. degrees through the BCM Medical Scientist Training Program as a McNair M.D./Ph.D. Scholar. She obtained her Ph.D. in Neuroscience, studying in the laboratories of Huda Y. Zoghbi, M.D., and Christian Rosenmund, Ph.D., where she explored the role of excitatory and inhibitory neuronal dysfunction in Rett syndrome. Following her doctoral training, Dr. Chao completed a child neurology residency at BCM and TCH, and postdoctoral training in the laboratory of Hugo J. Bellen, D.V.M., Ph.D., where she studied transcriptional dysregulation in neurodevelopmental disorders.

In 2019, Dr. Chao was appointed a joint primary faculty member in the Departments of Molecular and Human Genetics and Pediatrics. Her laboratory employs interdisciplinary approaches in humans, mice and fruit flies to understand molecular and cellular mechanisms in neurodevelopmental and neuropsychiatric disorders. Her research has led to the discovery of EBF3-related autism spectrum and neurodevelopmental disorders (HADDS and 10q26-deletion syndrome), EIF2AK1- and EIF2AK2-related leukodystrophies, EIF4A2-related developmental and epileptic encephalopathy, and recently PPFIA3related autism spectrum, epilepsy, and neurodevelopmental disorder. Her research is supported by the NIH DP5 Early Independence Award, Burroughs Wellcome Fund Career Award for Medical Scientists, the EBF3-HADDS Foundation, Mark A. Wallace Endowment Award, Cain Pediatric Neurology Research Foundation, Annie and Bob Graham, The Elkins Foundation, The STXBP1 Foundation, and The Robert and Janice McNair Foundation.

Michael Wangler, M.D. Associate Professor Dept of Molecular and Human Genetics Baylor College of Medicine Michael Wangler completed his M.D. at Baylor College of Medicine in 2006 and completed Pediatric Residency at Texas Children’s Hospital in 2009. He is board certified in Pediatrics and Medical Genetics. He is an Assistant Professor and physician scientist at the Jan and Dan Duncan Neurological Research Institute and in the Department of Molecular Human Genetics at Baylor College of Medicine.

His research interests include rare and undiagnosed disease and using genomics in medicine. He is an expert in HADDS syndrome as well as peroxisomal disorders, Xia-Gibbs syndrome, and genetic brain disorders.

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(The remaining speakers are in alphabetical order)

Margaret Baldwin, M.D., FAAOS

Pediatric Orthopedic & Spine Surgeon Texas Children’s Hospital | Baylor College of Medicine Dr. Baldwin is a board-certified orthopedic surgeon who specializes in pediatric orthopedics and spine surgery with an emphasis on the surgical and nonsurgical treatment of pediatric spinal deformity including scoliosis. Dr. Baldwin is passionate about providing the best possible care to all children and their families through open communication and assessment of patient and family needs.

Dr. Baldwin’s clinical interests are in scoliosis and spinal deformity; neuromuscular disorders including cerebral palsy, muscle diseases and spinal muscular atrophy; fractures in children.

Sylvia Farber, M.Ed. Family Education Advocate 101 Advocacy, LLC Sylvia Farber, the visionary behind 101 Advocacy, brings a wealth of expertise to her role as owner and founder. Armed with a BA in Special Education and Elementary Education from Florida Southern College, as well as a master's degree in special education from Florida State University, Sylvia is deeply committed to empowering families and individuals navigating the complexities of the special education system.

Since 2008, Sylvia has been a steadfast advocate, guiding families through the maze of special education processes and ensuring that every child receives the support they need to thrive. As a mother of three children, one of whom has a rare syndrome, Sylvia brings a deeply personal understanding to her work, fueling her passion for advocating for the rights and well-being of individuals with special needs.

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Robin Kochel, Ph.D. Research Psychologist Baylor College of Medicine | Texas Children’s Hospital Robin Kochel, Ph.D., is a research psychologist at Baylor College of Medicine and Texas Children’s Hospital. She received master’s degrees in child & Family Studies and Clinical Investigation from The University of Tennessee, Knoxville, and Baylor College of Medicine, respectively, and her Ph.D. in Developmental Psychology from Virginia Commonwealth University.

Dr. Kochel’s expertise is in the study of children with autism spectrum disorder (ASD). Her greatest contribution to the field has been through team-science projects conducted with other researchers across the United States.

This work has led to important discoveries about the genetic causes of ASD. Because of this, Dr. Kochel was recently named as one of the most collaborative autism researchers in the past decade.

Ashley LeMaire, PhD, ABPP

Clinical Neuropsychologist The Menninger Clinic | Baylor College of Medicine With over 10 years of experience in clinical neuropsychology and rehabilitation psychology, Dr. LeMaire is a board-certified neuropsychologist at The Menninger Clinic and assistant professor at Baylor College of Medicine.

Much of her career has been spent specializing in the assessment of traumatic and acquired brain injury, stroke and neurodegenerative diseases, as well as the assessment and treatment of psychological illness. In recent years, she has actively studied EBF3 HADDS in adults.

Dr. LeMaire earned her bachelor’s degree in psychology from LSU and her doctoral degree in Clinical Psychology from Nova Southeastern University. Her advanced training includes a post-master’s internship and a post-doctoral fellowship at the Michael E. DeBakey VA Medical Center in Houston.

In addition to her research, Ashley was a founding board member to the EBF3 HADDS Foundation.

She is a mother to three school-age children; Collette her eldest daughter living with HADDS was one of the first globally to be diagnosed with EBF3 HADDS.

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Erica Luse, M.D.

Pediatric Ophthalmologist Texas Children’s Hospital | Baylor College of Medicine Erica Luse is a pediatric ophthalmologist at Texas Children's Hospital. Dr. Luse earned her undergraduate degree in chemical engineering from the University of Notre Dame. She earned her medical degree from the McGovern Medical School at The University of Texas Health Science Center at Houston, where she was inducted into the Alpha Omega Alpha Honor Society and the Gold Humanism Honor Society. She completed ophthalmology residency at Loyola University Medical Center, followed by a fellowship in pediatric ophthalmology and strabismus at Texas Children’s Hospital. During her fellowship year, she was awarded the Texas Children’s Hospital Medical Staff Fellow Excellence Award.

Dr. Luse believes in providing high quality, comprehensive care to her patients and their parents.

She is passionate about continuing to learn and grow as a physician by practicing in a high-volume academic setting. Her clinical interests include all aspects of pediatric ophthalmology and adult strabismus with a focus on strabismus, retinopathy of prematurity, congenital cataracts, and congenital glaucoma.

Christopher J. McDougle, M.D. Director, Lurie Center for Autism Professor of Psychiatry and Pediatrics, Massachusetts General Hospital and MassGeneral Hospital for Children; Nancy Lurie Marks Professor in the Field of Autism, Harvard Medical School Dr. McDougle received a B.A. in chemistry from Valparaiso University in 1981 (with Highest Distinction) and an M.D. from Indiana University School of Medicine in 1986 (with Highest Distinction). He subsequently completed a residency in psychiatry at Yale University School of Medicine (1990) and a fellowship in child and adolescent psychiatry at the Yale Child Study Center (1995). Dr. McDougle is an internationally recognized expert in the neurobiology and neuropsychopharmacology of childhood-onset neuropsychiatric disorders including autism spectrum disorder. His research interests also include the etiology and pathophysiology of syndromes associated with intellectual disability.

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In September of 2000, Dr. McDougle was named the Albert Eugene Sterne Professor of Psychiatry and Chairman of the Department of Psychiatry at the IUSM. He continued as Director of the Section of Child and Adolescent Psychiatry, as well. In the fall of 2011, Dr. McDougle became the Director of the Lurie Center for Autism and the Nancy Lurie Marks Professor in the Field of Autism at Harvard Medical School.

Dr. McDougle was elected to the American College of Neuropsychopharmacology in 1995. He was twice chosen as Teacher of the Year by the Yale Psychiatry Residents. In 2002, Dr. McDougle was selected as a recipient of the 12th Annual Nancy C.A. Roeske, M.D. Certificate of Recognition for Excellence in Medical Student Education from the American Psychiatric Association, and in 2007 he was selected as a recipient of the Annual Irma Bland Award for Excellence in Teaching Residents, also by the American Psychiatric Association. Dr. McDougle was awarded the Frank J. Menolascino Award for Psychiatric Services for Persons with Mental Retardation/Developmental Disabilities from the American Psychiatric Association in 2009. He received the George Tarjan Award for Contributions in Developmental Disabilities from the American Academy of Child and Adolescent Psychiatry in 2012. In 2003, he was appointed Associate Editor of the Journal of Autism and Developmental Disorders.

Nita Sahani, MD, MHQS

Pediatric Anesthesiologist Harvard Medical School | Mass General Brigham Dr. Nita Sahani is a pediatric anesthesiologist at Massachusetts Eye and Ear hospital (MEE), Boston. She completed her anesthesia residency training at Massachusetts General Hospital (MGH) and did a pediatric anesthesia fellowship at Tufts Medical Center, Boston in 2013. During her tenure as the former Division Chief of Pediatric Anesthesia at MEE, she led an amazing and cohesive team of highly competent and empathetic pediatric anesthesiologists while fostering collaboration with surgeons, physicians, and nurses at MEE and MGH. She has worked diligently to ensure optimal care for the most complex and vulnerable patients. Her commitment to high quality care for the pediatric patients and passion for learning led her to complete a formal 2-year master’s program in Healthcare Quality and Safety from Harvard University in May 2023. She has spearheaded many quality initiatives within the department and is leveraging her skills and leadership experience both within the department and across the institution. She is a subject matter expert for management of difficult airways during challenging airway procedures

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Karyn Shelnutt, M.C.D. CCC-SLP Speech Language Pathologist (SLP) District Lead, Alamo Heights ISD Karyn Shelnutt is the Lead Speech-Language Pathologist for Alamo Heights ISD in San Antonio, Texas. In her 25th year as an SLP, Karyn has worked with individuals with communication disorders across the age continuum (0 to adult) and focused her career primarily working with school-age children and their families.

Karyn specializes in working with low incidence/multidisability populations of students and with Augmentative and Alternative Communication (AAC)/Assistive Technology. She considers the most important predictor of success as an SLP to be the relationship built with every student and family. As an Army wife, Karyn has moved and worked across the United States, planting roots in San Antonio following her husband’s military retirement. She also volunteers as her district’s military liaison to support military families and their unique needs.

Outside of her practice in Speech-Language Pathology, Karyn enjoys crafts, swimming, visiting her extended family and spending time with her husband, children and mini goldendoodle, Scout.

Irina Stanasel, M.D. Pediatric Urologist Children’s Health | UT Southwestern Medical School Irina Stanasel provides care for children of all ages who have a variety of urologic disorders. She received her medical degree from Baylor College of Medicine in Houston, Texas and completed her residency in urology at Wake Forest University Baptist Medical Center. She completed a pediatric urology fellowship at Texas Children’s Hospital in Houston. Her specialties include fetal urology, bladder bowel dysfunction, complex hypospadias repair, prune belly syndrome and quality improvement in pediatric urology. Dr. Stanasel has been a EBF3 HADDS advocate since the syndrome was discovered and maintains a large case load of HADDS patients.

In addition to her medical degree, Dr. Stanasel holds a chemical engineering degree from the University of Texas, Austin. She also spent two years as a faculty member at the University of New Mexico working with underserved populations.

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Haley Streff, MS, CGC Certified Genetic Counselor Texas Children’s Hospital

Haley Streff is a certified genetic counselor at Texas Children's Hospital and Baylor College of Medicine. She completed her master’s degree in genetic counseling at the University of Texas Health Sciences Center in Houston. She sees patients in the outpatient genetics clinics and multi-disciplinary craniofacial clinics at Texas Children's Hospital. She also works on genetic test utilization at Texas Children’s Hospital and is a clinical supervisor for the Baylor genetic counseling program.

Haley enjoys participating in outreach and education in the rare disease community and she serves on the board of directors and multiple committees for various genetic and family support groups.

HADDS Global Panelists Hannah Childers – Texas, USA (In-Person) Zoë Yeo – Brussels, Belgium (Virtual) Dexter Mendez – UK (In-Person) Danielle Thomas-Slaughter – Pennsylvania, USA (Virtual) Sadie Jones Hernandez – Utah, USA (Virtual) Lyla Cossman – Pennsylvania, USA (In-Person) Jonatas de Faveri –Santa Catarina, Brazil (Virtual) Bianca Ballwanz – Minnesota, USA (Virtual)

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Thank You! 2023-2024 Board of Directors If you see one of these faces, be sure to thank them for their tireless effort in making this landmark year our most successful yet!

Benefits of joining the Foundation’s Board • Ability to contribute and influence the support given to the community.

• Make a global impact!

• Build deeper, more meaningful connections with our HADDS family and researchers.

• Grow your skills and professional resume!

Application Deadline

August 23, 2024

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The New & Improved Conference Pop-Up Shop This year’s HADDS Conference Pop-Up Shop was designed to have limited inventory onsite, allowing you to touch and feel popular shop items before you purchase. Any items purchased at the conference will be processed immediately and shipped directly to your home.

Onsite Specialty Items Include: (These items are not found in the Online Shop)

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HADDS Friendship Bracelets Hardcover HADDS Coffee Table Book Retired Prior Shop Items (tumblers, shirts, etc.)

HADDS Awareness Ribbon Themed Items o Stickers, Magnets, Keychains, etc.

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There are so many ways to Engage with our community but most only engage, subscribe or follow a few channels.

Why is being connected important?

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Each year the Foundation allocates grant dollars to help support our global HADDS community and each year we are left with a surplus, unable to fully disperse funds.

If you are having a tough time covering an unexpected medical bill or therapy/device purchase and would appreciate help, apply for a medical grant.

If you are traveling to Houston for a research appointment anytime throughout the year and want to reduce your trip costs, apply for our travel grant.

Live far away and want to plan a local HADDS meetup or setup a HADDS fundraising/awareness event? Apply for a community grant!

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We are a small community where awareness and knowledge-building are dependent on us and our level of engagement/ knowledge.

Following ensures you are the first to know about all things HADDS, whether it be published research, new resources being offered, HADDS in the news or interesting new updates on families or events.

Ar e You y?! d a e R

Registration Opens August 17th

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Let’s Do This!

Active Research Studies Why is it important to participate in rare gene research?

EBF3-Related Disorders/10q26 Duplication Syndrome and other rare disease research can help improve diagnosis and treatment as well as increase access to genetic testing for people not yet diagnosed with a rare disease. The number of participants helps researchers understand the underlying genetic and biological mechanisms of the syndrome, which can lead to potential new treatments and biomarkers for both rare and common diseases.

If you haven’t yet signed up or inquired about participation, please scan the QR codes on the relevant flyer and it will lead you to the research interest form.

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10q26 duplication disorder, also known as trisomy 10q26, is a neurodevelopmental disorder caused by the duplication of a portion of chromosome 10. The purpose of this research study is to determine the effects of 10q26 duplication on neurodevelopment.

To be eligible, the patient must have the following: • A diagnosis of a 10q26 chromosomal duplication syndrome through previous genetic testing (ex. chromosomal microarray, etc)

Participation includes the following procedures: • Providing access to past medical records and developmental history • Providing past genetic testing • Providing past clinical MRIs

Location: Texas Children’s Hospital, 6701 Fannin St., Houston, TX 77030 Options available for remote participation in the study.

Providers or families may visit https://redcap.link/10q26duplication or use the QR code (open camera app and hold phone camera up to code) to answer basic eligibility questions. A research team member will contact you.

FOR MORE INFORMATION Please contact our team at chao-lab@bcm.edu or 832-826-0454 Principal Investigator: Dr. Hsiao-Tuan Chao, MD, PhD 22

Directions & Local Attractions

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Conference Week Addresses

Hilton Houston Plaza/Medical Center 6633 Travis St., Houston, TX 77030 (713) 313-4000

Jan and Dan Duncan Neurological Research Institute (NRI) 1250 Moursund St. Houston, TX 77030 (7th Floor Conference Center)

Blue Bird / HADDS Clinic Mark Wallace Tower Texas Children’s Hospital (Neurology) 6701 Fannin St. Houston, TX 77030 (832) 822-5046

The NRI is too far to walk in the Houston July heat from the hotel. Take the Hilton shuttle, Uber/Lyft, or park your own vehicle in one of NRI’s adjacent parking decks. If you take the shuttle, allow yourself plenty of time before your scheduled conference sessions or lab tour time.

Parking: Visitor parking is available at the following locations: Texas Medical Center Garage 6: 1329 Moursund St. Texas Medical Center Garage 15: 6550 Bertner Ave. Texas Medical Center Garage 2: 1151 E. Holcombe Blvd.

Parking Rates For additional information on visitor parking, please visit Texas Medical Center - Visitor Parking.

It is about a 10-minute walk from the hotel to the Blue Bird Neurology Clinic. From the hotel, exit the Hilton lobby and take a left towards Southgate Drive. Head southwest on Travis St toward Southgate Blvd. Then turn right toward Fannin St. Next turn left onto Holcombe Blvd and continue walking until you see the Mark A. Wallace Tower at Texas Children’s Hospital

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Planning for the Weekend?

Try A Few Local Attractions Near the Medical Center

(In Hilton Houston Med Center Hotel’s Shuttle Route too!)

Museum District

Zoo & Park

Hilton HADDS Hotel NRI TCH’s Blue Bird Clinic

Museums: Children’s Museum Museum of Fine Art Natural Science Museum

Zoo/Parks: Houston Zoo Hermann Park TCH’s Playground

Other Attractions

(Outside of Shuttle Route)

NASA Space Center Downtown Aquarium

Friday will be filled with individual appointments in the clinic (TCH’s Blue Bird Clinic), research appointments (Medical Center Area) as well as lab tours at NRI. This is a workday and traffic may be unpredictable, so please keep that in mind as you venture around town.

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NOTES: