Duke University North Carolina

Dr. Neelam Makhijani, MBBS, M.D.

Medical Genetics and Genomics Fellow PGY-5

Dept of Pediatrics-Medical Genetics

Duke University Hospital,

Cell Phone: 984-***-**** ******.*********@****.***

www.facebook.com/careforkids https://www.linkedin.com/in/drneelammakhijani/

Professional Summary

Skilled and passionate Pediatrician and Neonatology professional with knowledge, motivation, and experience currently doing a final year medical genetics fellowship to make valuable contribution. Over twenty years of experience as a pediatrician and neonatologist, worked as a clinical researcher, scientific writer, and digital health tech consultant in academia. Continued working with Telemedicine for rural healthcare. Meticulous, team player with excellent communication and interpersonal skills. Organized CME presentations, and collaborations with experts from multiple disciplines of medicine. Worked in neonatal intensive care units, equipped with a first-hand experience with kids with different genetic and metabolic disorders and their prognosis. Aspire to work in depth on gene therapies in patients with genetic and metabolic disorders. Having special interest in patients with Downs syndrome and Pompe disease, would love to continue to work with these kids. Always had special passion and enjoyed working with complex care and high-risk neonates.

Experience

Medical Genetics and Genomics Fellow, July 2023-July 2025

Duke University Children’s Hospital, Durham, North Carolina

Working with Medical Genetics Department as a fellow resident and helping with outpatient and inpatient clinical patients’ evaluation and management.

Working with Rare disease disorders especially Pompe and GSD and involved in department’s research activities and conferences.

Working with the team on case report publications on metabolic disorders with Dr Niyazov and Dr El-Gharbawy

Under Dr Kishnani’s guidance working on writing a manuscript on- “The literature review of Muscle Ultrasound and its importance in the evaluation and management of Pompe disease and other neurodevelopmental disorders”.

Working with team in exploring gene therapies and involved genetic trials at Duke University Hospital

Postdoctoral Clinical Research Associate. April 2021 – June 2023

Duke University Children’s Hospital, Durham, North Carolina

Working with the specialized therapists in evaluating children diagnosed with Late- onset Pompe disease by newborn screening for longitudinal research at Duke University children’s hospital, regarding their clinical outcomes and need for ERT

Involved in Pediatric-Genetics Department research associated with Pompe Disease and its outcome after initiation of ERT in late-onset Pompe disease diagnosed by newborn screening program

Working with National Genzyme LSD registry especially collecting and updating the data in patients with Pompe disease

Organize and conduct Pfizer educational training program at Duke, arranging seminar and lectures by different subspecialists at Genetics department and helps in educating attendees across the globe

Manuscript in writing- “Case Review Series: Experience with “late-onset” Pompe disease (LOPD) diagnosed by Newborn Screening started on Enzyme replacement therapy”

Pediatric Associate. November 2019 – March 2021

Maruthi Pediatrics Clinic, Morrisville, North Carolina

Worked in Pediatric outpatient clinic involved in parental and teen counseling

Developed a diet plan for babies and nutritional protocols for kids at different stages

Breast feeding counselling

Primary Care Center Director. October 2013 – August 2018

Care for Kids Clinic, Noida, India

Established primary care health center with well-baby clinics

High risk clinic, including special needs children.

Referring services included PT, OT and speech therapies

Increased vaccination awareness through campaigns and brochures

Maternal health counselling, with special focus on breast feeding

Organized oral polio camps and health counselling camps

Adolescent counselling and special vaccinations for teen

Collaborated with Winsome rehabilitation center in providing clinical children with spinal muscular atrophy patients, cerebral palsy, Down’s syndrome and autism

Consultant Neonatologist and Pediatrician, June 2011-October 2016

Apollo Hospitals, Noida, India

Being the NICU, attending physician and establishing neonatal protocols in NICU

Independently participated in all inpatient procedures like intubations and umbilical line placements in preterm babies and sick neonates

Managing and treating high risk babies like Downs syndrome and complex care infants and their follow up

Part time Neonatology consultant, Feb 2011-Feb 2018

Lifecare Hospital and Shivalik Hospital. Noida, India

Attending NICU ward for rounds with general pediatricians

Creating daily plan for preterm babies in NICU in daily rounds and perform procedures

Instructor, Neonatology, July 2008-June2010

UAMS, Arkansas Children’s Hospital, Little Rock, Arkansas

Worked as faculty at 85 bedded NICU involved in neonatal inpatient procedures

Attended high risk newborn clinics for NICU graduates

Mentoring new residents and conducting lectures

Involved in direct neonatal care and parental counselling

Involved in study “presence of nucleated RBC's as strong predictor of morbidity and mortality in ECMO patients” worked as principal investigator along with Dr Pradhan ad intensivist/cardiologist, one of great mentors

Research Assistant, December 2003-August 2004

Myeloma Institute for Research and Therapy, Little Rock, Arkansas

Worked with Dr. Frits Van Rhee (MD, PhD) and his team at Arkansas cancer research center

Research work on Castleman's disease, analyzing clinical data for the patients treated at UAMS, setting up research and follow up protocol for this disease

Education

Medical Genetics and Genomics Residency, July 2023-July 2025

Duke University Hospital, Durham, North Carolina

Working with Medical Genetics Department as a fellow resident

Working with Rare disease disorders and other genetic disorders as an outpatient and inpatient, also involved in department’s research activities and conferences

Postdoctoral Clinical Research Associate, April 2021-June 2023

Duke University Hospital, Durham, North Carolina

Working on Manuscript “Case Review Series: Experience with “late-onset” Pompe disease (LOPD) diagnosed by Newborn Screening started on Enzyme replacement therapy”

Organizing and conducting Pfizer educational training program at Duke, arranging seminar and lectures by different subspecialists at Genetics department and helps in educating attendees all across the globe

Working with National Genzyme LSD registry especially collecting and updating the data in patients with Pompe disease

Learning about enzyme replacement therapies in lysosomal storage disorders

M.D. Pediatrics, University of Arkansas for Medical Sciences, July 2005- June 2008

Arkansas Children’s Hospital, Little Rock, Arkansas

Rotations in newborn nurseries and intensive care nurseries for eight months

Involved in inpatient services in various specialized wards for almost six months every year 2005-2008

Attended outpatient clinics including, behavioral clinic, continuity clinic and specialized clinics

Member of CPR Task Force Committee, 2006-2008

Worked as Chief Resident’s Council member, Department of Pediatrics 2006-2008

Appointed as a transport Physician for transferring critical care babies from referral centers to Arkansas Children’s Hospital, Angel Flight 2006-2008

Honorable Mention-Pediatric Intern 2005

Chief award Sep 2006 and Honorable service award 2008

ECFMG certification, May 2002-Decenber 2004

Completed USMLE I, USMLE II and clinical Skills assessments test (CSA) for ECFMG certification required for Residency programs at United States

M.B.B.S, Medical college student July 1992-February 1997

Grant Medical College & Sir J.J. Group of Hospitals Mumbai, India

Completed four and half years of medical school with various rotations at one of the ancient government institute and hospital

Completed one year of internship with working six months in primary health care center in rural setting and six months in urban center

Honorable student award 1996 and distinction in microbiology

Publications

UAMS Pediatric Cardiology Publication: June 2007-June 2008

Manuscript on racial disparities in the natural history and outcome of Isolated VSD common Heart Defect –data analysis and worked as researcher and technical writer for the manuscript

Duke University Hospital, clinical research team of Dr Priya. Kishnani: April 2021-Present

Case review series: Experience with “late-onset” Pompe disease diagnosed by newborn screening and started on enzyme replacement therapy (in preparation).

Longitudinal follow-up uncovers an early phenotype in children with late-onset Pompe disease diagnosed by newborn screening (in preparation)

Co-Author on Case reports in process of submission in GM1 Gangliosidosis and HMG CoA lyase deficiency

Research Project in fellow-year: Muscle ultrasound literature review and insights on diagnosis and prognosis in IOPD patients

Abstract Accepted at ACMG for presentation in March 2025 annual ACMG meeting in LA

Presentations

Arkansas Children’s Hospital, July 2008-June 2010

Role of Vit D in Preterm babies

Breast feeding in Preterm babies

Indian Academy of Pediatrics, Noida chapter, India December 2013-September 2017

Conducted various seminars and CMEs like food allergies, metabolic disorders

Prevention and treatment guidelines of HIV positive mother and infant

Identifying children with special needs and their follow up

Professional Affiliations

American Academy of Pediatrics (AAP)

American College of Medical Genetics (ACMG)

Arkansas State Medical Board License

North Carolina State License

Indian Medical Association (UP Board License), Noida

National Neonatology Forum, India

Indian Academy of Pediatrics

Served on the board as Secretary for Noida-Delhi chapter 2013 – 2017 [IAP organizes conferences and CME sessions for doctors. Promotes ethical and professional standards for Pediatricians. Provides healthcare services in underserved areas by organizing physician camps]

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