Current & Past Speakers
Gina Cousineau Advisory Board Member
Gina Cousineau lives in San Clemente, California. She is an ALD carrier and advocate. She is founder of the Be A Hero Become A Donor foundation, in honor of her son Evan Cousineau, which educates and provides opportunities for individuals to donate blood, cord blood, organs/tissue, along with joining the national bone marrow registry.She is a trained chef, has her BS in dietetics, and MS in integrative and functional nutrition, and has been a fitness professional for 30 plus years. As a culinary nutritionist, her goal is to bring the family back around the kitchen table to and help her clients lead a long, healthy, independent life.
Janis Sherwood Advisory Board Member
Founder Fight ALD - Fighting Illness Through Education
I started my foundation after losing my 8 year old son, Sawyer, just six months after his diagnosis in order to help educate the medical professionals about the early onset symptoms and simple diagnostic blood test. To do this I exhibited at many continuing medical education (CME) conferences from 2004 - 2009. I then set out in an RV plastered with information about ALD to visit 215 Children's Hospitals across the U.S. in 7 months. My mission morphed into a much bigger journey and after 5 years I ended up visiting over 3200 medical facilities in 49 states, across 44,000 miles.
Upon my return I worked with Gina and the Myelin Project to get Newborn Screening added to California's program. That led to us Lobbying the Secretary of Health to add it to the Recommended Uniform Screening Panel (RUSP) in 2015.
There is still much work to be done and as our ALD community grows, our outreach and progress grows too.
Kathleen O’Sullivan-Fortin Advisory Board Member
ALD Patient/ALD Parent. My son, John, was diagnosed more than a decade ago with adrenal insufficiency and ALD. I’ve been fortunate to work with ALD Connect since it’s founding in 2013 and am constantly inspired and humbled by the amazing ALD families and passionate clinicians with whom I’ve had the privilege to work alongside to help support the patient community and end this disease.
Nic & Alison Adler Co-Founders
Parents of Cash and Lucas, Lucas was diagnosed with ALD through newborn screening in California in 2017. Ever since, Nic and Alison have been working on ways to forward a cure and build a stronger ALD community. Recently, they started The Lucas Project that raised over $130,000 for ALD research at Stanford. Nic and Alison co-founded and organized ALD Family Weekend along side of Dr. VanHaren, and The Painted Turtle.
Keith Van Haren MD Co-Founder
Keith Van Haren MD has been dedicated to leukodystrophy care and research for almost 20 years. He is the Director of the ALD Clinic & Neuroimmunology Clinic at Lucile Packard Children’s Hospital. He manages a research lab dedicated to ALD and multiple sclerosis where has worked intensively to develop new scientific insights and improved standards of care for ALD. Dr Van Haren is one of the cofounders of ALD Connect, a non-profit dedicated to forging progress for the ALD community.
Ben Lenail 2020/2021
Ben Lenail, 54, is a native of France, and lives in Palo Alto, California. He has worked in the Silicon Valley for three decades, and is currently with biotech startup Deep Genomics. Ben was diagnosed with ALD in 2011. He's a co-founder and Board member of ALD Connect.
Tara Meady 2021
I am a mom of two boys, my youngest son Brody was diagnosed with ALD through NBS in CT in 2016. I was also diagnosed with ALD. My oldest son Finn tested negative. Brody was diagnosed with adrenal insufficiency when he was a baby and is on daily steroids and gets stress doses as needed. He gets blood work and sees his endocrinologist in New York every 4 months. He also gets MRIs and sees his neurologist In Massachusetts every 6 months. In addition to being a full time mom I am a nurse practitioner at an OBGYN clinic and labor and delivery floor at the hospital.
Suzanne Flynn 2021
Suzanne Flynn is a graduate of the Connell School of Nursing at Boston College. A pediatric nurse for 21 years, she lives in Crestwood, New York with her husband, Ken and three children—Charlotte (13 years), Gavin (11 years), and Patrick (7 years). Her youngest child, Patrick, was diagnosed with ALD at birth through newborn screening thanks to Aidan’s Law in New York State. Her older son, Gavin, was then tested and was also found to have ALD. Both boys are under the care of Dr. Florian Eichler at Mass General Hospital in Boston. They are asymptomatic and doing very well.
Jillian Smith 2021
We are the Smiths from Salem, NH.
Our 10 year old Grady is an ALD warrior. Grady was diagnosed late with a Loes of 10 but defying all odds with zero progression and minimal deficits. He was blessed to receive his BMT 9/20/18. Grady loves to meet new ALD friends and loves to think of ways to support his friends. We love fundraising to help fellow BMT/ALD families here in Boston. We are so honored to be involved in this years ALD family weekend!!
Greg Benton 2020/2021
Greg’s first exposure to the horrors of myelin disease was his uncle’s AMN diagnosis in 1992 who passed away in late 2001. His brother Mike was diagnosed soon after and just recently lost his battle with AMN on February 25th, 2020. Greg, like all sons of female carriers, had a 50% chance of inheriting the x-ALD gene from his mother but did not.
Greg served as the Program Director for The Myelin Project for several years and in 2015, he started the Leukodystrophy Family Support Program to support low-income leukodystrophy families living with ALD, AMN, and other leukodystrophies. After the merger of The Myelin Project and ALD Connect, Greg was elected as an ALD Connect Board Member.
He currently works as an Account Director for Yelp, Inc. and resides in San Francisco, California.
Wesley Brooks 2021
Wes is a South African native living in Miami, Florida. He was diagnosed with AMN in 2004 at age 24 and within 18 months was using a wheelchair full time. Since then he has lived in the UK, US, and Brazil, and has traveled to over 40 countries while enjoying a fulfilling career in the financial markets. Wes has an 18 month old daughter who is an ALD carrier, with his wife who is also a wheelchair user due to a spinal cord injury.
Amanda Valdez 2021
Amanda Valdez lives in Minneapolis, MN with her husband Ken, their 2-year-old son Niko, and their rescue German Shepherd Otis.
Amanda’s son was diagnosed with ALD through newborn screening in June of 2018. There was no known family history of ALD until his diagnosis. Amanda is co-founder and president of X out ALD, which was formed in June of 2020. Amanda and fellow board members hope to help raise awareness of ALD, support ALD families and raise funds for ALD research.
Amanda is dedicated to her career in corrections. She enjoys being outdoors, supporting live music and spending time with her family, including her 10 nieces and nephews.
Kirsten Finn 2021
Kirsten Finn lives in Saskatoon, Saskatchewan, Canada. She is the mother of three boys, Hunter and Jasper (10 year old twins) and four year old Conner.
In June of 2020, Conner was diagnosed with Adrenoleukodystrophy by chance. After delays in getting to his first MRI, it was discovered that Conner had cerebral involvement requiring immediate stem cell transplant.
With no ALD Specialists in Canada and lack of experience in bone marrow transplant for ALD boys, the Finn Family turned to Dr. Troy Lund at the University of Minnesota for their son’s treatment.
Conner received his stem cell transplant on August 24, 2020 and is recovering and doing well.
Prior to being “just Mom” Kirsten was an ER and Vascular Surgery Nurse and a former Senior Investigator for IIROC (Canada’s National Financial Regulatory Body).
The Finn Family is determined to bring Newborn Screening for ALD to Canada and hope to be a support for other families fighting rare disease.
Bill and Kate Groel 2021
Bill and Kate Groel have been parent advocates for ALD research and education for over 20 years. Kate learned she was a carrier of ALD after the diagnosis and passing of her brother Robert in 1979.
Together, they have three boys named Connor, Carson, and Clancy and given Kate’s family history had all three boys screened for ALD at birth using cord blood. Both Connor, 22 and Clancy 15, tested positive for the biochemistry for ALD. They both participated in the Lorenzo's Oil research study for many years and have adrenal insufficiency.
As a couple, BIll and Kate have held many fundraising events benefiting ALD support organizations. In 2019, Bill testified before the Texas Senate Finance Committee for the funding and implementation of Newborn Screening in Texas. In 2020, Bill and Kate spoke at the ALD Connect annual meeting on their family's experience with 504 Educational Plans for school age children and currently they participate in the ALD Connect Peer Mentor Program.
Frani Broussard Denenburg 2021
Arriverderci ALD
Chris & Katie Marino 2021
Chris and Katie Marino live in Grafton, MA with their two boys, Ryan and Braden, and their beloved Boston Terrier, Arby. Braden was diagnosed with ALD in Feb 2019, after being sick with what turned out to be Addison's Disease for months, even years, prior. As a result of Braden's diagnosis the family learned that Katie also has ALD. Since Braden's diagnosis the Marino Family have been all about action to raise awareness of ALD and funds for Dr. Eichler and his team of researchers. In 2021, Chris ran the David Goggins 4x4x48 challenge, running four miles, every four hours, for 48 hours. Simultaneously, Katie posted ALD educational awareness information to social media every four hours in concert with Chris' run updates. In 2020, the family had planned a fundraising event which had to be cancelled due to Covid. Instead, Chris ran the virtual Boston Marathon and, to raise further awareness, he took on the challenge of running all 345 streets of their hometown. Both of these endeavors drew media attention, resulting in further awareness and funds being raised. To date the Marino's have raised over $45,000 for Dr. Eichler and his research lab.
Sydne Pantaleon 2021
Sydne, 28, is both a mother of an ALD boy, as well as a woman affected by ALD. Her and her son Peyton live in the suburbs of Chicago, Illinois, and when Peyton was diagnosed with ALD in the summer of 2017, Illinois was not yet a NBS state. She spent the first year of his diagnosis building him a team of local specialist, and educating the school systems about this rare disease. Sydne is currently a board member for Remember The Girls, a peer mentor for ALD Connect, and involved in a few working groups with Everylife Foundation to help educate others on the rare disease community, With a degree in Psychology in addition to the fact that they have had some time to get into a routine with Peyton’s medical care, Sydne now focuses a lot of her time on educating specialists about Women’s health in the ALD community, and families mental health and coping mechanisms in regards to the affects of a rare disease. Sydne strongly believes in the power of numbers, and is thankful for the community we have with such love and support!
Miranda McAuliffe 2021
Miranda McAuliffe is the mother of a 5 year old boy (Jack) who was diagnosed with ALD at birth thanks to New York's newborn screen program. She lives on Staten Island with Jack, her husband Justin, and her two dogs Lady and Gus Gus. She volunteers as an admin for the "ALD Support" Facebook group and works part time for the ALD Alliance (formerly Aidan Jack Seeger Foundation). Prior to assisting with the various needs of the ALD Alliance, she worked as a blood drive coordinator for The New York Blood Center and an assistant director of admissions for St. Paul's School of Nursing.
Elisa Seeger 2020/2021
Aidan Jack Seeger Foundation/ALD Alliance
After losing her son, Aidan to ALD in 2012 at the age of 7, Elisa started this foundation in his honor with the primary goal of having ALD Newborn Screening passed in every state. New York became the first state to start screening for ALD with the addition of “Aidan’s Law” in 2013. Since then, Elisa has worked to help other states add ALD by traveling across the country to speak at newborn screening committee meetings. Elisa had federal bills introduced in 2016 which would mandate newborn screening for ALD nationally. This is still a work in progress and as of 2020 has changed this directive to include all diseases added to the the federal recommended uniform screening panel. In addition, the foundation hosts an annual ALD Standards of Care meeting every January, has created and ALD Parent’s Guide with the help of clinicians and parents in the community. This past January we have decided to change our name to ALD Alliance to welcome other families to join our efforts in helping to change the course of ALD.
For more information please contact: elisa@aidanjackseegerfoundation.org
Jesse Torrey 2020/2021
Jesse Torrey is a writer, art teacher, student and mom. Her son, Jack, was diagnosed with ALD 13 years ago following months of searching for answers to explain his unusual behavior. Jack received a stem cell transplant and survived, but the disease left him with significant disabilities. His life is complicated, but Jack's smile keeps his family moving forward and motivates them to help other families in the ALD community.
Amber Salzman, PhD 2020/2021
Amber currently leads the Stop ALD Foundation, in addition to serving as CEO of Ohana Biosciences. The Stop ALD Foundation was established in 2000 when her nephew, Oliver, was diagnosed with ALD, leading to her son and another nephew testing positive. The Foundation led the process to add ALD to the National Recommended Uniform Screening Panel (RUSP) and has championed the development of new therapies to address ALD. Amber’s son is 18 years post transplant and a second year college student. The family mourns the loss of Oliver, who was diagnosed too late to be rescued.
Chris Kaag 2020/2021
Chris Kaag wears numerous hats as the founder and Executive Director of the IM ABLE Foundation, founder of Corps Fitness, adaptive athlete, public speaker, and relentless advocate for the adaptive community. At the age of 21 and in the prime of his military career, Kaag was diagnosed with adrenomyeloneuropathy. In 2007, he launched the IM ABLE Foundation, with the mission to remove obstacles that prevent people with disabilities from being physically active by providing grants, resources, fitness opportunities and motivation. His motto was simply, “Get Up and Move!“. Chris Kaag is an inspiration to everyone, able-bodied and adaptive, that he encounters, and he encourages them to celebrate the abilities they have, rather than focus on those they don’t. Chris, his family, his team, and his community believe that an active lifestyle is achievable for all, regardless of their abilities.
Julie Purschke 2021
Julie Purschke is a wife, mom of two, teacher, and co-founder/director of Knockout ALD, Inc. ALD/AMN have been a part of most of Julie’s life as she is a symptomatic carrier of ALD whose father was a patient of Dr. Hugo Moser and passed away of AMN. Her son Nicholas is an ALD warrior who had a successful umbilical cord blood transplant to treat cerebral ALD in 2016 at the University of Minnesota Masonic Children’s Hospital. She and her husband Dave founded their nonprofit Knockout ALD, Inc. to raise awareness of ALD and funds to support ALD research at the University of Minnesota, as well as support other ALD families. Julie devotes much of her time to and is passionate about the ALD cause and their nonprofit including their main annual event, Run for ALD, Cure the Boys near St. Louis, Missouri. She is a parent advocate for newborn screening for ALD in Missouri and hopes to be a mentor to NBS families as Missouri adds ALD to the newborn screen panel in 2021.
Jennifer Reed BSN RN 2021
Jen is a School Nurse at Ipswich Middle School in Ipswich, MA. She began her career at Tufts Medical Center 20 years ago and transitioned to a community hospital, specializing in pediatrics. Opportunity knocked when her middle school nurse retired in 2016, landing her in the school environment.
Born and raised in Ipswich, Jen lives on the North Shore with her husband, two children, and 2 dogs.
Josh Bonkowsky MD PhD 2020/2021
Josh Bonkowsky MD PhD is the Division Chief for Pediatric Neurology at the University of Utah where he oversees the Leukodystrophy Clinic. Over the past two decades, Dr Bonkowsky has pioneered new ways to study leukodystrophies using “big data” and high throughput genetic screening models.
Troy Lund MD PhD 2020/2021
Troy Lund MD PhD is a pediatric stem cell transplant specialist at the University of Minnesota where he specializes in transplant of inherited metabolic disorders. Dr Lund has participated in numerous gene therapy trials, including those for ALD, and maintains an active ALD research lab.
Dr. Stephan Kemp 2021
is an Associate Professor at the Amsterdam University Medical Centers (location AMC), University of Amsterdam, the Netherlands. He was trained as a translational researcher at Johns Hopkins University/ Kennedy Krieger Institute, Baltimore, Maryland, USA and obtained his PhD in 1999 at the University of Amsterdam. Dr Kemp has more >20 years of experience with adrenoleukodystrophy research and published >80 papers and book chapters on adrenoleukodystrophy. In 1999, together with Dr. Hugo Moser, he initiated the ALD database (www.x-ald.nl), which moved to www.adrenoleukodystrophy.info in 2017. He is scientific adviser of the Dutch ALD patient organisation and the Stop ALD Foundation, member of the Panel of Experts of Alex TLC (UK), member of the scientific board of the European Leukodystrophy Association (ELA) and a member of the board of directors of ALD Connect. Dr Kemp is the project leader of the SCAN study; the pilot for implementing ALD newborn screening in the Netherlands. In 2015, he received the AMC Societal Impact Award (ASIA). His research focuses on lipid metabolism and neurotoxicity.
Florian Eichler MD 2021
Florian Eichler received his M.D. from the University of Vienna Medical School. After graduating from medical school in 1997, he entered residency in Pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins (Stipendium Metabolicum 1999) and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following his research fellowship at Johns Hopkins he underwent residency training in Child Neurology at the Massachusetts General Hospital (MGH). After completing residency in 2005 he joined the staff at MGH.
Now an Associate Professor of Neurology at Harvard Medical School he is extending his research into animal models of neurodegenerative disorders. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. As director of the leukodystrophy clinic at the Massachusetts General Hospital he sees patients with a variety of white matter disorders.
Ami Shah MD 2020/2021
Ami Shah MD is a pediatric stem cell transplant specialist at Lucile Packard Children’s Hospital who specializes in transplant for inherited metabolic disorders like ALD. She has participated in several gene therapy studies including gene therapy for ALD and continues to care for many ALD patients and families as part of the ALD Clinic.
Sejal Shah MD 2020/2021
Sejal Shah MD is a pediatric endocrinologist at Lucile Packard Children’s Hospital. She is a well regarded expert in adrenal insufficiency syndromes and has helped shape the national standards of care for endocrine care in ALD.
Dr. Bradley Miller 2021
Dr. Miller completed his Pediatric residency (2000) and Pediatric Endocrinology fellowship (2003) at the Mayo Clinic. He is a Professor in Pediatric Endocrinology, and has been a member of the division since 2003. Dr. Miller has an interest in the role of the growth hormone (GH)/insulin-like growth factor (IGF) system in normal and abnormal growth in children. He is also interested in the growth and development of children following adversity including cancer and its therapies, fetal alcohol exposure and international adoption. Dr. Miller is also interested in the endocrine aspects of abnormal glycosylation in children with Congenital Disorders of Glycosylation
Dr. Molly Regelmann 2021
Dr. Regelmann is a general pediatric endocrinologist with expertise in a broad range of endocrine concerns: Growth Disorders, Pubertal Disorders, Adrenal Insufficiency (including X-linked Adrenoleukodystrophy), Thyroid Disease, Diabetes, Turner syndrome. Dr. Regelmann’s research has been an extension of the clinical care she provides to a wide range of patients. Her initial clinical studies focused on growth and neonatal thyroid disease. More recently, she has focused on reporting the clinical experience with newborn screening for X-linked adrenoleukodystrophy. In addition to publications listed, she has authored chapters on neonatal thyroid disease and hypoglycemia.
Dr. Rohan Gandhi 2021
Dr. Gandhi is executive director of medical and scientific affairs at Autobahn Therapeutics. Dr. Gandhi has dedicated the past 15 years to bringing forward novel therapies for patients suffering from rare neurological diseases. He has worked across the research and development organization, focusing on the translation of preclinical discoveries to early clinical development success by utilizing a biomarker-driven approach. Prior to Autobahn, Dr. Gandhi was the global head of scientific affairs and extramural research at Kiniksa Pharmaceuticals where he oversaw all external collaborations and investigator-initiated studies. Recruited as the very first employee, he provided scientific due diligence and led negotiations that culminated in the in-licensing of 5 programs, led translational studies for 3 compounds that advanced from discovery to clinical development and worked beside the chief medical officer to serve as Kiniksa’s ambassador to external medical and scientific colleagues. Prior to joining Kiniksa, Dr. Gandhi led neuropharmacology efforts at Cubist Pharmaceuticals until its acquisition by Merck. Prior to that he was a neuroscientist at Vertex Pharmaceuticals where he contributed to CNS drug discovery programs in chronic pain, neurodegenerative, neuro-inflammatory, and rare genetic disorders. He earned a Ph.D. in neuroscience from the University of Kansas School of Medicine where his doctoral training focused on neuropharmacology and neuroanatomy. Dr. Gandhi received his B.A. (Honors) in biology and psychology from Coe College.
Asif Paker MD 2020/2021
Asif Paker MD has more than 10 years of drug development experience in rare diseases and gene therapies, and he has spent his career in both academia and the biopharmaceutical industry. Asif is a VP Clinical Development at Swanbio therapeutics where he is responsible for developing AAV gene therapy for AMN. Before joining Swanbio, Asif served as VP Clinical Development at Ovid Therapeutics where he led global clinical development for Ovid's epilepsy franchise. Prior to Ovid, Asif led the clinical team to develop LVV gene therapy in CALD at Bluebird Bio. In academia, he was a key team member on the clinical trials of Lorenzo oil in AMN patients, and DHA in children with peroxisomal disorders at Johns Hopkins Medical Institution. Asif is a neurologist, and he completed his training at the University of Texas and at the Harvard University program at Massachusetts General, Brigham & Women’s and Boston Children’s Hospitals.
Nicole Corwin NP 2020
Nicole Corwin NP is the nurse practitioner for the ALD clinic at LPCH/Stanford. Since joining the clinic in 2018, she has had the chance to meet many ALD families, helping with a wide range of medical needs, counseling, and advanced care.
Taylor Kane 2020
Taylor Kane’s activism began shortly after her father died from Adrenoleukodystrophy (ALD) and she learned that she was a carrier of the disease. Not only did she help raise more than $250,000 for ALD research, but she successfully lobbied the New Jersey legislature to enact a law requiring the screening of newborns for ALD. In 2012, Taylor founded a campaign called YAC (Young ALD Carriers) to support young females who carry the gene for ALD and to assist them in effectuating positive change through advocacy, social media, and the legislative process. In 2017, Taylor founded a nonprofit organization, Remember The Girls, to support carriers of X-linked diseases (including ALD), a group often overlooked by the medical community. Taylor recently published an autobiography titled Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease.
Dr. Rachel Salzman 2020
Dr. Rachel Salzman co-founded SwanBio Therapeutics in 2017 and currently serves as its President and Chief Portfolio Development Officer. Prior to her time at SwanBio she was Chief Science Officer of The Stop ALD Foundation (SALD). SwanBio Therapeutics is a gene therapy company focused on delivering genetic medicines to patients with serious neurological diseases, where a treatment for Adrenomyeloneuropathy, the adult phenotype of Adrenoleukodystrophy (ALD), is currently under development. The Stop ALD Foundation is a non-profit Medical Research Organization dedicated to employing entrepreneurial approaches and innovative methodology towards effective therapies, cures, and prevention of all forms of ALD.
Dr. Salzman has advanced multiple therapies where novel platforms such as genetic and cellular medicines hold promise. As CSO at SALD she made critical contributions in driving forward the world’s first ex vivo lentiviral gene therapy clinical trial conducted in non-HIV infected patients. Dr. Salzman has been an active member of the American Society of Gene & Cell Therapy ASGCT for over 18 years and has served in a leadership capacity on multiple committees and task forces designed to build up and strengthen the state and science of gene and cell therapy in both the US and EU. Her contributions were recognized when she received the Sonia Skarlatos Public Service Award in 2015. She currently serves as the Society’s representative to the National Academies of Science Forum on Regenerative Medicine.
Jon Kuderer 2020
Jon Kuderer was diagnosed with ALD in 1993 at the age of 1. This early diagnoses came from the misdiagnoses of his older brother, but gave Jon's doctors and family enough time to prepare for a bone marrow transplant which took place in 1998 at the University of Minnesota! The transplant proved to be a success! Since then, Jon has thrived in all challenges in life, including graduating from one of the nation's top engineering colleges. Today, he's a Mechanical Engineer in Phoenix Arizona. He's also a familiar face on many ALD facebook pages and many ALD related conferences and events. Jon is always open as a resource for that unique patient perspective. His email is Jon.Kuderer@gmail.com.
Karen Harrison 2020
Karen’s twin sons were diagnosed with ALD in 2004 and she joined the ALD Life team in 2013. As an ALD mum, Karen brings significant personal experience to supporting beneficiaries, and works with specialists to ensure best practice in treatments & awareness within the NHS. She regularly presents ALD Life’s work and key messages to professionals and peers and is often requested as a speaker at conferences and events.
Dr. Maura Ruzhnikov 2020
Maura Ruzhnikov MD is a clinically trained pediatrician, child neurologist, and geneticist. She is the director of the Neurogenomics Clinic at Stanford where she takes on the most difficult diagnostic challenges. As a member of the ALD Clinic, Dr Ruzhnikov cares for many children with ALD.
Dr. Jacinda Sampson 2020
Dr. Jacinda Sampson received her MD and a PhD in biochemistry from University of Alabama at Birmingham, and completed her neurology residency and neurogenetics fellowship at the University of Utah. She served at Columbia University Medical Center prior to joining Stanford University Medical Center in 2015. Her areas of interest include myotonic dystrophies, Duchenne muscular dystrophy, and neurogenetic disorders such as neurofibromatosis, hereditary spastic paraparesis, spinocerebellar ataxia, among others. She is interested in clinical trials for treatment of neurogenetic disorders, and is the clinical application of next-generation genomic sequencing to genetic testing.
Paul Orchard MD 2020
Paul Orchard MD is a pediatric stem cell transplant specialist at the University of Minnesota where he specializes in transplant of inherited metabolic disorders. He has led or participated in numerous gene therapy trials including those for ALD. Over the past 30 years, Dr Orchard has trained many ALD transplant experts who now work across the country.
Meg Cruz 2020
Meg focuses on major gifts fundraising and grateful family outreach at the Foundation. She is passionate about health care philanthropy and enjoys working with grateful patients and families. Previously, she spent four years as senior development officer for San Francisco-based CPMC Foundation, which is part of Sutter Health, Northern California’s largest regional health system. Meg also helped nonprofit leaders and boards strengthen their major gifts and annual fundraising as a consultant and campaign manager at CCS Fundraising. Her first job with a not-for-profit was in foundation relations at the University of Southern California Keck School of Medicine, working mainly with physician scientists at the Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research.